ΣΠΑΝΙΕΣ ΚΑΙ ΓΕΝΕΤΙΚΕΣ

 Λίστα Σπάνιων Παθήσεων

Πηγή http://rarediseases.info.nih.gov/

Πανευρωπαικό Δύκτιο Σπάνιων Ασθενειών http://www.orpha.net/consor/cgi-bin/index.php

 

DNA

Τι είναι το ανθρώπινο γονιδίωμα ;
Το ανθρώπινο γονιδίωμα είναι ολόκληρο το " θησαυροφυλάκιο της ανθρώπινης κληρονομιάς . " Η αλληλουχία του ανθρώπινου γονιδιώματος αποκτήθηκε από το Πρόγραμμα του Ανθρώπινου Γονιδιώματος , που ολοκληρώθηκε τον Απρίλιο του 2003 , αυτό παρέχει την πρώτη ολιστική άποψη της γενετικής μας κληρονομιάς .. Τα 46 ανθρώπινα χρωμοσώματα ( 22 ζεύγη χρωμοσωμάτων αυτοσωμικά και 2 φυλετικά χρωμοσώματα ) μεταξύ τους φιλοξενούν σχεδόν 3 δισεκατομμύρια βάσεων DNA που περιλαμβάνει περίπου 20.500 γονίδια που κωδικοποιούν πρωτεΐνες . Οι περιοχές κωδικοποίησης αποτελούν λιγότερο από το 5% του γονιδιώματος (η λειτουργία του υπόλοιπου DNA δεν είναι σαφής ) και ορισμένα χρωμοσώματα έχουν υψηλότερη πυκνότητα γονιδίων από άλλα.
Οι περισσότερες γενετικές ασθένειες είναι το άμεσο αποτέλεσμα μιας μετάλλαξης σε ένα γονίδιο . Ωστόσο , ένα από τα δυσκολότερα προβλήματα είναι η διαλεύκανση του πώς τα γονίδια συμβάλλουν σε ασθένειες που έχουν ένα πολύπλοκο πρότυπο κληρονομικότητας , όπως στις περιπτώσεις του διαβήτη, άσθματος, καρκίνου , των ψυχικων ασθένειων κ.α. . Σε όλες αυτές τις περιπτώσεις , κανένα γονίδιο δεν έχει τη δύναμη να ορίσει το αν ένα άτομο θα αναπτύξει την ασθένεια ή όχι . Είναι πιθανό ότι περισσότερες από μία μεταλλάξεις απαιτούνται πριν η ασθένεια είναι πρόδηλη , και μια σειρά γονίδιων μπορούν το καθένα να κάνει μια λεπτή συμβολή στην ευαισθησία ενός ατόμου σε μια ασθένεια , κάποια γονίδια  μπορούν επίσης να επηρεάσουν το πώς ένα άτομο αντιδρά με περιβαλλοντικούς παράγοντες.
 http://www.genome.gov


Τι είναι η γενετική ασθένεια ;
Γενετική ασθένεια είναι οποιαδήποτε ασθένεια που προκαλείται από ανωμαλία στο γονιδίωμα ενός ατόμου. Η ανωμαλία μπορεί να κυμαίνεται από μική σε σημαντική, από μια διακριτική μετάλλαξη σε μια μόνο βάση στο DNA ενός και μόνο γονιδίου, σε μια μεικτή χρωμοσωμική ανωμαλία η οποια περιλαμβάνει την πρόσθεση ή αφαίρεση ενός ολόκληρου χρωμοσώματος ως  ενός  συνόλου αυτών. Ορισμένες γενετικές διαταραχές κληρονομούνται από τους γονείς , ενώ οι άλλες γενετικές ασθένειες προκαλούνται από αλλαγές που αποκτήθηκαν ή μεταλλάξεις σε ένα προϋπάρχον γονίδιο ή ομάδα γονιδίων . Οι μεταλλάξεις συμβαίνουν είτε τυχαία είτε λόγω κάποιας περιβαλλοντικής έκθεσης .

Ποια είναι τα διάφορα είδη της γενετικής κληρονομιάς ;
Υπάρχει ένας αριθμός διαφορετικών τύπων γενετικής κληρονομιάς , συμπεριλαμβανομένων των εξής τεσσάρων


1) Μονογονιδιακη κληρονομικοτητα - Single gene inheritance
Μονογονιδιακη κληρονομικοτητα , που ονομάζεται επίσης Μέντελ κληρονομικότητα. Αυτό το είδος της κληρονομικότητας προκαλείται από τις αλλαγές ή μεταλλάξεις που συμβαίνουν στην ακολουθία του DNA από ένα μόνο γονίδιο . Υπάρχουν περισσότερες από 6.000 γνωστές διαταραχές ενός μόνο γονιδίου , οι οποίες εμφανίζονται σε 1 περίπου από κάθε 200 γεννήσεις . Αυτές οι διαταραχές ειναι γνωστές ως μονογενετικές διαταραχές ( διαταραχές μιας ενιαίας ηλικίας).


Μερικά παραδείγματα μονογενετικών  διαταραχών περιλαμβάνουν :
•    κυστική ίνωση
•    δρεπανοκυτταρική αναιμία
•    σύνδρομο Marfan
•    νόσο του Huntington
•    αιμοχρωμάτωση
Οι μονογονιδιακές διαταραχές κληρονομούνται με αναγνωρίσιμα μοτίβα : αυτοσωματικό κυρίαρχο , αυτοσωματικό υπολειπόμενο , και X - συνδέομενο .

2) Πολυπαραγοντική κληρονομικότητα - Multifactorial inheritance
Πολυπαραγοντική κληρονομικότητα , που ονομάζεται επίσης περίπλοκη ή πολυγονιδιακή κληρονομικότητα . Οι διαταραχές πολυπαραγοντικής κληρονομικότητας προκαλουντε  από έναν συνδυασμό των περιβαλλοντικών παραγόντων και μεταλλάξεων σε πολλά γονίδια . Για παράδειγμα , διαφορετικά γονίδια επηρεάζουν την ευαισθησία του καρκίνου του μαστού τα οποια έχουν βρεθεί στα χρωμοσώματα 6, 11, 13, 14, 15, 17, και 22. Μερικές κοινές χρόνιες ασθένειες είναι πολυπαραγοντικές διαταραχές .


Παραδείγματα πολυπαραγοντικής κληρονομικότητας περιλαμβάνουν :
•    καρδιακή νόσο
•    υψηλή αρτηριακή πίεση
•    Νόσου του Alzheimer
•    αρθρίτιδα
•    διαβήτης
•    καρκίνος
•    παχυσαρκία.
Πολυπαραγοντική κληρονομικότητα , επίσης, συνδέεται με κληρονομικά χαρακτηριστικά , όπως τα πρότυπα δακτυλικών αποτυπωμάτων , το ύψος , το χρώμα των ματιών , και το χρώμα του δέρματος .


3) Χρωμοσωμικές ανωμαλίες - Chromosome abnormalities
Τα χρωμοσώματα , διακριτές δομές που αποτελούνται από DNA και πρωτεϊνες, βρίσκονται στον πυρήνα του κάθε κυττάρου . Επειδή τα χρωμοσώματα είναι οι φορείς του γενετικού υλικού , ανωμαλίες στον αριθμό των χρωμοσωμάτων ή τη δομή τους μπορεί να οδηγήσουν  σε ασθένειες. Οι ανωμαλίες στα χρωμοσώματα συνήθως οφείλονται σε πρόβλημα στην κυτταρική διαίρεση .
Για παράδειγμα , το σύνδρομο Down ή τρισωμία 21 είναι μια συχνή διαταραχή που εμφανίζεται όταν ένα άτομο έχει τρία αντίγραφα του χρωμοσώματος 21. Υπάρχουν πολλές άλλες χρωμοσωμικές ανωμαλίες όπως οι εξής:
•    Σύνδρομο Turner ( 45 , Χ )
•    Σύνδρομο Klinefelter (47 , XXY )
•    CRI du Chat σύνδρομο , ή « κραυγή της γάτας " σύνδρομο ( 46 , ΧΧ ή ΧΥ , 5P - ) .
Ασθένειες μπορεί επίσης να συμβούν λόγω της χρωμοσωμικής μετατόπισης κατά την οποία ανταλλάσσονται τμήματα μεταξυ δύο χρωμοσώματων.

4) Μιτοχονδριακή κληρονομικότητα - Mitochondrial inheritance

Αυτό το είδος της γενετικής διαταραχής προκαλείται από μεταλλάξεις στο μη-χρωμοσωμικό DNA των μιτοχονδρίων . Τα μιτοχόνδρια είναι μικρά στρογγυλά ή ραβδοειδή οργανίδια που εμπλέκονται στην κυτταρική αναπνοή και βρισκοντε στο κυτταρόπλασμα των φυτικών και ζωικών κυττάρων. Κάθε μιτοχόνδριο μπορεί να περιέχει 5 έως 10 κυκλικά κομμάτια DNA . Δεδομένου ότι τα ωάρια, αλλά όχι τα  σπερματοζωάρια διατηρούν τα μιτοχόνδρια τους κατά τη διάρκεια της γονιμοποίησης , το μιτοχονδριακό DNA πάντα κληρονομείται από το θηλυκό γονέα .
•    Παραδείγματα της μιτοχονδριακής νόσου περιλαμβάνουν
•    μια ασθένεια των ματιών που ονομάζεται κληρονομική οπτική ατροφία του Leber
•    ένα είδος επιληψίας που ονομάζεται MERRF myoclonus epilepsy with Ragged Red Fibers
•    μια μορφή άνοιας που ονομάζεται ΜΕLΑΣ mitochondrial encephalopathy, lactic acidosis
•    εγκεφαλικού τύπου  επεισόδια

 http://www.medicinenet.com/genetic_disease/article.htm

Medical Author:

Melissa Conrad Stöppler, MD

Medical Editor:

William C. Shiel Jr., MD, FACP, FACR

Επιμέλεια Μετάφρασης Dr Eleni Paximadi

 

Γενετικές διαταραχές

ΑΑδερματογλυφία

Αδρενολευκοδυστροφία

Αιμοφιλία

Αλφισμός

Ανευπλοειδία

Αυτισμός

Αχονδροπλασία

Αχρωματοψία

ΔΔομικές χρωμοσωμικές ανωμαλίες

ΘΘυλακική υπερκεράτωση

ΚΚυστική ίνωση

ΜΜεσογειακή Αναιμία

Μικροφαλλία

Μυϊκές δυστροφίες

ΝΝόσος του Γουίλσον

Νευροϊνωμάτωση

Νωτιαία μυϊκή ατροφία

ΣΣύνδρομο Down

Σ συνέχεια...Σύνδρομο Kallmann

Σύνδρομο Plummer-Vinson

Σύνδρομο Άσπεργκερ

Σύνδρομο Κλαϊνεφέλτερ

Σύνδρομο Τέρνερ

Σύνδρομο του Σαβάντ

Σύνδρομο Τουρέτ

ΦΦαινυλκετονουρία

ΧΝόσος του

Κατάλογος των γενετικών διαταραχών

Από τη Βικιπαίδεια, την ελεύθερη εγκυκλοπαίδεια
Ο πίνακας που ακολουθεί είναι ένας κατάλογος των γενετικών διαταραχών εφόσον είναι γνωστές έως τώρα, ο αιτιώδης τύπος μετάλλαξης και το χρωμόσωμα που εμπλέκετε. Ο κατάλογος των ανθρώπινων γονιδίων περιλαμβάνει τα γονίδια που δεν αναφέρονται εδώ, τα οποια επηρεάζουν τη προδιάθεση για ορισμένες ασθένειες.
P - μετάλλαξη σημείου, ή οποιαδήποτε θέση εισαγωγής / διαγραφής εξ ολοκλήρου μέσα σε ένα γονίδιο
D - διαγραφή ενός γονιδίου ή γονιδίων
C - ολόκληρο χρωμόσωμα επιπλέον, που λείπουν, ή και τα δύο (βλ. χρωμοσωμικές ανωμαλίες)
T Tρινουκλεοτιδικές διαταραχές επανάληψης: γονίδιο εκτείνεται σε μήκος

Συνηθέστερες διαταραχές

Διαταραχή

Μεταλαγή

Χρωμόσωμα

22q11.2 deletion syndrome

D

22q

Angelman syndrome

DCP

15

Canavan disease

 

17p

Coeliac disease

   

Charcot–Marie–Tooth disease

   

Color blindness

P

X

Cri du chat

D

5

Cystic fibrosis

P

7q

Down syndrome

C

21

Duchenne muscular dystrophy

D

Xp

Haemochromatosis

P

6

Haemophilia

P

X

Klinefelter syndrome

C

X

Neurofibromatosis

 

17q/22q/?

Phenylketonuria

P

12q

Polycystic kidney disease

P

16 (PKD1) or 4 (PKD2)

Prader–Willi syndrome

DC

15

Sickle-cell disease

P

11p

Tay–Sachs disease

P

15

Turner syndrome

C

X


 

Αναλυτικός πίνακας


Όνομα διαταραχής


Τύπος μεταλαγής


Χρωμόσωμα

1p36 deletion syndrome

D

1p36

18p deletion syndrome

D

18p

21-hydroxylase deficiency

 

6p21.3

45,X
see Turner syndrome

C

X

47,XX,+21
see Down syndrome

C

21

47,XXX
see triple X syndrome

C

X

47,XXY
see Klinefelter syndrome

C

X

47,XY,+21
see Down syndrome

C

21

47,XYY syndrome

C

Y

5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency

   

5-aminolaevulinic dehydratase deficiency porphyria
see ALA dehydratase deficiency

   

5p deletion syndrome
seeCri du chat

D

5p

5p- syndrome
seeCri du chat

D

5p

A-T
see ataxia telangiectasia

   

AAT
see alpha 1-antitrypsin deficiency

   

Absence of vas deferens
see congenital absence of the vas deferens

   

Absent vasa
see congenital absence of the vas deferens

   

aceruloplasminemia

   

ACG2
see achondrogenesis type II

   

ACH
see achondroplasia

   

Achondrogenesis type II

   

achondroplasia

substitution

4p16.3

Acid beta-glucosidase deficiency
see Gaucher disease type 1

   

Acrocephalosyndactyly (Apert)
see Apert syndrome

   

acrocephalosyndactyly, type V
see Pfeiffer syndrome

   

Acrocephaly
see Apert syndrome

   

Acute cerebral Gaucher's disease
see Gaucher disease type 2

   

acute intermittent porphyria

   

ACY2 deficiency
see Canavan disease

   

AD
see Alzheimer's disease

   

Adelaide-type craniosynostosis
see Muenke syndrome

   

Adenomatous Polyposis Coli
see familial adenomatous polyposis

   

Adenomatous Polyposis of the Colon
see familial adenomatous polyposis

   

ADP
see ALA dehydratase deficiency

   

adenylosuccinate lyase deficiency

   

Adrenal gland disorders
see 21-hydroxylase deficiency

   

Adrenogenital syndrome
see 21-hydroxylase deficiency

   

Adrenoleukodystrophy

   

AIP
see acute intermittent porphyria

   

AIS
see androgen insensitivity syndrome

   

AKU
see alkaptonuria

   

ALA dehydratase porphyria
see ALA dehydratase deficiency

   

ALA-D porphyria
see ALA dehydratase deficiency

   

ALA dehydratase deficiency

   

Albinism

   

Alcaptonuria
see alkaptonuria

   

Alexander disease

   

alkaptonuria

   

Alkaptonuric ochronosis
see alkaptonuria

   

alpha 1-antitrypsin deficiency

   

alpha-1 proteinase inhibitor
see alpha 1-antitrypsin deficiency

 

14q32.1

alpha-1 related emphysema
see alpha 1-antitrypsin deficiency

 

14q32.1

Alpha-galactosidase A deficiency
see Fabry disease

P

Xq22.1

ALS
see amyotrophic lateral sclerosis

   

Alström syndrome

   

ALX
see Alexander disease

   

Alzheimer's disease

   

Amelogenesis imperfecta

   

Amino levulinic acid dehydratase deficiency
see ALA dehydratase deficiency

   

Aminoacylase 2 deficiency
see Canavan disease

   

amyotrophic lateral sclerosis

   

Anderson-Fabry disease
see Fabry disease

P

Xq22.1

androgen insensitivity syndrome

   

Anemia

   

Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia

 

X

Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia

 

X

Anemia, splenic, familial
see Gaucher disease

   

Angelman syndrome

   

Angiokeratoma Corporis Diffusum
see Fabry disease

P

Xq22.1

Angiokeratoma diffuse
see Fabry disease

   

Angiomatosis retinae
see von Hippel–Lindau disease

   

ANH1
see X-linked sideroblastic anemia

 

X

APC resistance, Leiden type
see factor V Leiden thrombophilia

   

Apert syndrome

   

AR deficiency
see androgen insensitivity syndrome

   

AR-CMT2
see Charcot-Marie-Tooth disease, type 2

   

Arachnodactyly
see Marfan syndrome

   

ARNSHL
see Nonsyndromic deafness#autosomal recessive

   

Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome#COL2A1

   

Arthrochalasis multiplex congenita
see Ehlers–Danlos syndrome#arthrochalasia type

   

AS
see Angelman syndrome

   

Asp deficiency
see Canavan disease

   

Aspa deficiency
see Canavan disease

   

Aspartoacylase deficiency
see Canavan disease

   

ataxia telangiectasia

   

Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome
see Rett syndrome

   

autosomal dominant juvenile ALS
see amyotrophic lateral sclerosis, type 4

   

Autosomal dominant opitz G/BBB syndrome
see22q11.2 deletion syndrome

D

22q

autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis#type 2

   

Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness#autosomal recessive

   

Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see Pendred syndrome

   

AxD
see Alexander disease

   

Ayerza syndrome
see primary pulmonary hypertension

   

B variant of the Hexosaminidase GM2 gangliosidosis
see Sandhoff disease

   

BANF
see neurofibromatosis type II

   

Beare-Stevenson cutis gyrata syndrome

 

10q26

Benign paroxysmal peritonitis
see Mediterranean fever, familial

   

Benjamin syndrome

   

beta-thalassemia

   

BH4 Deficiency
see tetrahydrobiopterin deficiency

   

Bilateral Acoustic Neurofibromatosis
see neurofibromatosis type II

   

biotinidase deficiency

   

bladder cancer

   

Bleeding disorders
see factor V Leiden thrombophilia

   

Bloch-Sulzberger syndrome
seeincontinentia pigmenti

   

Bloom syndrome

 

15q26.1

Bone diseases

   

Bone marrow diseases
see X-linked sideroblastic anemia

   

Bonnevie-Ullrich syndrome
see Turner syndrome

   

Bourneville disease
see tuberous sclerosis

   

Bourneville phakomatosis
see tuberous sclerosis

   

Brain diseases
see prion disease

   

breast cancer

   

Birt–Hogg–Dubé syndrome

 

17

Brittle bone disease
see osteogenesis imperfecta

   

Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome

   

Bronze Diabetes
see hemochromatosis

   

Bronzed cirrhosis
see hemochromatosis

   

Bulbospinal muscular atrophy, X-linked
see Kennedy's disease

   

Burger-Grutz syndrome
see lipoprotein lipase deficiency, familial

   

CADASIL syndrome

P

3

CGD Chronic granulomatous disorder

   

Campomelic dysplasia

C

17q24.3-q25.1

Canavan disease

   

Cancer

   

Cancer Family syndrome
see hereditary nonpolyposis colorectal cancer

   

Cancer of breast
see breast cancer [1]

   

Cancer of the bladder
see bladder cancer

   

Carboxylase Deficiency, Multiple, Late-Onset
see biotinidase deficiency

P

3

Cardiomyopathy
see Noonan syndrome

   

Cat cry syndrome
seeCri du chat

   

CAVD
see congenital absence of the vas deferens

   

Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome

D

22q

CBAVD
see congenital absence of the vas deferens

   

Celiac Disease

   

CEP
see congenital erythropoietic porphyria

   

Ceramide trihexosidase deficiency
see Fabry disease

 

X

Cerebelloretinal Angiomatosis, familial
see von Hippel-Lindau disease

P

3 (p26-p25)

Cerebral arteriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome

P

3

Cerebral autosomal dominant ateriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome

P

3

Cerebral sclerosis
see tuberous sclerosis

 

9 (q34), 16 (p13.3)

Cerebroatrophic Hyperammonemia
see Rett syndrome

 

X

Cerebroside Lipidosis syndrome
see Gaucher disease

P

1(q21)

CF
see cystic fibrosis [2]

D (most common);
or substitution

CFTR (7q31.2)

CH
see congenital hypothyroidism

   

Charcot disease
see amyotrophic lateral sclerosis

   

Charcot-Marie-Tooth disease

   

Chondrodystrophia
see achondroplasia

   

Chondrodystrophy syndrome
see achondroplasia

   

Chondrodystrophy with sensorineural deafness
see otospondylomegaepiphyseal dysplasia

   

Chondrogenesis imperfecta
see achondrogenesis, type II

   

Choreoathetosis self-mutilation hyperuricemia syndrome
see Lesch-Nyhan syndrome

P

X

Classic Galactosemia
see galactosemia

P

9 (p13)

Classical Ehlers–Danlos syndrome
seeEhlers–Danlos syndrome#classical type

   

Classical Phenylketonuria
see phenylketonuria

   

Cleft lip and palate
see Stickler syndrome

   

Cloverleaf skull with thanatophoric dwarfism
see Thanatophoric dysplasia#type 2

   

CLS
see Coffin-Lowry syndrome

   

CMT
see Charcot-Marie-Tooth disease

   

Cockayne syndrome

   

Coffin-Lowry syndrome

   

collagenopathy, types II and XI

   

Colon Cancer, familial Nonpolyposis
see hereditary nonpolyposis colorectal cancer

   

Colon cancer, familial
see familial adenomatous polyposis

   

Colorectal cancer [3]

   

Complete HPRT deficiency
see Lesch-Nyhan syndrome

   

Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome

   

Compression neuropathy
see hereditary neuropathy with liability to pressure palsies

   

Congenital adrenal hyperplasia
see 21-hydroxylase deficiency

   

congenital bilateral absence of vas deferens
see Congenital absence of the vas deferens

   

Congenital erythropoietic porphyria

   

Congenital heart disease

   

Congenital hypomyelination
see Charcot-Marie-Tooth disease#Type 1
see Charcot-Marie-Tooth disease#Type 4

   

Congenital hypothyroidism

   

Congenital methemoglobinemia
seeMethemoglobinemia#Congenital methaemoglobinaemia

   

Congenital osteosclerosis
see achondroplasia

   

Congenital sideroblastic anaemia
see X-linked sideroblastic anemia

 

X

Connective tissue disease

   

Conotruncal anomaly face syndrome
see 22q11.2 deletion syndrome

D

22q

Cooley's Anemia
see beta-thalassemia

   

Copper storage disease
see Wilson's disease

 

13 (q14.3)

Copper transport disease
see Menkes disease

   

Coproporphyria, hereditary
see hereditary coproporphyria

   

Coproporphyrinogen oxidase deficiency
see hereditary coproporphyria

   

Cowden syndrome

   

CPO deficiency
see hereditary coproporphyria

   

CPRO deficiency
see hereditary coproporphyria

   

CPX deficiency
see hereditary coproporphyria

   

Craniofacial dysarthrosis
see Crouzon syndrome

   

Craniofacial Dysostosis
see Crouzon syndrome

   

Cretinism
see congenital hypothyroidism

   

Creutzfeldt-Jakob disease
see prion disease

   

Cri du chat

D

5p

Crohn's disease, fibrostenosing

P

16q12

Crouzon syndrome

 

FGFR2 (10q25.3-q26)

Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome

   

Crouzonodermoskeletal syndrome

   

CS
see Cockayne syndrome
see Cowden syndrome

   

Curschmann-Batten-Steinert syndrome
see myotonic dystrophy

   

cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome

   

D-glycerate dehydrogenase deficiency
see hyperoxaluria, primary

   

Dappled metaphysis syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type

   

DAT - Dementia Alzheimer's type
see Alzheimer's disease

   

Genetic hypercalciuria
see Dent's disease

 

Xp11.22

DBMD
see muscular dystrophy, Duchenne and Becker types

   

Deafness with goiter
see Pendred syndrome

   

Deafness-retinitis pigmentosa syndrome
see Usher syndrome

   

Deficiency disease, Phenylalanine Hydroxylase
see phenylketonuria

P

12q

Degenerative nerve diseases

   

de Grouchy syndrome 1
seeDe Grouchy syndrome

D

18p

Dejerine-Sottas syndrome
see Charcot-Marie-Tooth disease

   

Delta-aminolevulinate dehydratase deficiency porphyria
see ALA dehydratase deficiency

   

Dementia
see CADASIL syndrome

   

demyelinogenic leukodystrophy
see Alexander disease

   

Dermatosparactic type of Ehlers–Danlos syndrome
see Ehlers–Danlos syndrome#dermatosparaxis type

   

Dermatosparaxis
see Ehlers–Danlos syndrome#dermatosparaxis type

   

developmental disabilities

   

dHMN
see Amyotrophic lateral sclerosis#type 4

   

DHMN-V
see distal spinal muscular atrophy, type V

   

DHTR deficiency
see androgen insensitivity syndrome

 

X

Diffuse Globoid Body Sclerosis
see Krabbe disease

   

Di George's syndrome

D

22q

Dihydrotestosterone receptor deficiency
see androgen insensitivity syndrome

 

X

distal spinal muscular atrophy, type V

   

DM1
see Myotonic dystrophy#type 1

T

19

DM2
see Myotonic dystrophy#type 2

T

3

Down syndrome

 

21

DSMAV
see distal spinal muscular atrophy, type V

   

DSN
see Charcot-Marie-Tooth disease#type 4

   

DSS
see Charcot-Marie-Tooth disease, type 4

   

Duchenne/Becker muscular dystrophy
see Muscular dystrophy, Duchenne and Becker type

   

Dwarf, achondroplastic
see achondroplasia

 

3

Dwarf, thanatophoric
see thanatophoric dysplasia

   

Dwarfism

   

Dwarfism-retinal atrophy-deafness syndrome
see Cockayne syndrome

   

dysmyelinogenic leukodystrophy
see Alexander disease

   

Dystrophia myotonica
see myotonic dystrophy

T

19

dystrophia retinae pigmentosa-dysostosis syndrome
see Usher syndrome

   

Early-Onset familial alzheimer disease (EOFAD)
see Alzheimer disease#type 1
see Alzheimer disease#type 3
see Alzheimer disease#type 4

   

EDS
see Ehlers–Danlos syndrome

   

Ehlers–Danlos syndrome

   

Ekman-Lobstein disease
see osteogenesis imperfecta

   

Entrapment neuropathy
see hereditary neuropathy with liability to pressure palsies

   

Epiloia
see tuberous sclerosis

   

EPP
see erythropoietic protoporphyria

   

Erythroblastic anemia
see beta-thalassemia

   

Erythrohepatic protoporphyria
see erythropoietic protoporphyria

   

Erythroid 5-aminolevulinate synthetase deficiency
see X-linked sideroblastic anemia

   

Erythropoietic porphyria
see congenital erythropoietic porphyria

   

erythropoietic protoporphyria

   

Erythropoietic uroporphyria
see congenital erythropoietic porphyria

   

Eye cancer
see retinoblastoma FA - Friedreich ataxia
see Friedreich's ataxia

   

FA
see fanconi anemia

   

Fabry disease

P

Xq22.1

Facial injuries and disorders

   

factor V Leiden thrombophilia

   

FALS
see amyotrophic lateral sclerosis

   

familial acoustic neuroma
see neurofibromatosis type II

   

familial adenomatous polyposis

   

familial Alzheimer disease (FAD)
see Alzheimer's disease

   

familial amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis

   

familial dysautonomia

   

familial fat-induced hypertriglyceridemia
see lipoprotein lipase deficiency, familial

   

familial hemochromatosis
see hemochromatosis

   

familial LPL deficiency
see lipoprotein lipase deficiency, familial

   

familial nonpolyposis colon cancer
see hereditary nonpolyposis colorectal cancer

   

familial paroxysmal polyserositis
see Mediterranean fever, familial

   

familial PCT
see porphyria cutanea tarda

   

familial pressure sensitive neuropathy
see hereditary neuropathy with liability to pressure palsies

   

familial primary pulmonary hypertension (FPPH)
see primary pulmonary hypertension

   

Familial Turner syndrome
see Noonan syndrome

   

familial vascular leukoencephalopathy
seeCADASIL syndrome

   

FAP
see familial adenomatous polyposis

   

FD
see familial dysautonomia

   

Female pseudo-Turner syndrome
see Noonan syndrome

   

Ferrochelatase deficiency
see erythropoietic protoporphyria

   

ferroportin disease
see Haemochromatosis#type 4

   

Fever
see Mediterranean fever, familial

   

FG syndrome

   

FGFR3-associated coronal synostosis
see Muenke syndrome

   

Fibrinoid degeneration of astrocytes
see Alexander disease

   

Fibrocystic disease of the pancreas
see cystic fibrosis

   

FMF
see Mediterranean fever, familial

   

Folling disease
see phenylketonuria

   

fra(X) syndrome
see fragile X syndrome

 

Xq27.3

fragile X syndrome

 

Xq27.3

Fragilitas ossium
see osteogenesis imperfecta

   

FRAXA syndrome
seefragile X syndrome

 

Xq27.3

FRDA
see Friedreich's ataxia

   

Friedreich's ataxia
see Friedreich's ataxia

   

Friedreich's ataxia

   

FXS
seefragile X syndrome

 

Xq27.3

G6PD deficiency

   

Galactokinase deficiency disease
see galactosemia

   

Galactose-1-phosphate uridyl-transferase deficiency disease
see galactosemia

   

galactosemia

   

Galactosylceramidase deficiency disease
see Krabbe disease

   

Galactosylceramide lipidosis
see Krabbe disease

   

galactosylcerebrosidase deficiency
see Krabbe disease

   

galactosylsphingosine lipidosis
see Krabbe disease

   

GALC deficiency
see Krabbe disease

   

GALT deficiency
see galactosemia

   

Gaucher disease

   

Gaucher-like disease
see pseudo-Gaucher disease

   

GBA deficiency
see Gaucher disease type 1

   

GD
see Gaucher's disease

   

Genetic brain disorders

   

genetic emphysema
see alpha 1-antitrypsin deficiency

   

genetic hemochromatosis
see hemochromatosis

   

Giant cell hepatitis, neonatal
see Neonatal hemochromatosis

   

GLA deficiency
see Fabry disease

   

Glioblastoma, retinal
see retinoblastoma

   

Glioma, retinal
see retinoblastoma

   

globoid cell leukodystrophy (GCL, GLD)
see Krabbe disease

   

globoid cell leukoencephalopathy
see Krabbe disease

   

Glucocerebrosidase deficiency
see Gaucher disease

   

Glucocerebrosidosis
see Gaucher disease

   

Glucosyl cerebroside lipidosis
see Gaucher disease

   

Glucosylceramidase deficiency
see Gaucher disease

   

Glucosylceramide beta-glucosidase deficiency
see Gaucher disease

   

Glucosylceramide lipidosis
see Gaucher disease

   

Glyceric aciduria
see hyperoxaluria, primary

   

Glycine encephalopathy
see Nonketotic hyperglycinemia

   

Glycolic aciduria
see hyperoxaluria, primary

   

GM2 gangliosidosis, type 1
see Tay-Sachs disease

   

Goiter-deafness syndrome
see Pendred syndrome

   

Graefe-Usher syndrome
see Usher syndrome

   

Gronblad-Strandberg syndrome
see pseudoxanthoma elasticum

   

Guenther porphyria
see congenital erythropoietic porphyria

   

Gunther disease
see congenital erythropoietic porphyria

   

Haemochromatosis
see hemochromatosis

   

Hallgren syndrome
see Usher syndrome

   

Harlequin type ichthyosis

   

Hb S disease
see sickle cell anemia

   

HCH
see hypochondroplasia

   

HCP
see hereditary coproporphyria

   

Head and brain malformations

   

Hearing disorders and deafness

   

Hearing problems in children

   

HEF2A
see hemochromatosis#type 2

   

HEF2B
see hemochromatosis#type 2

   

Hematoporphyria
see porphyria

   

Heme synthetase deficiency
see erythropoietic protoporphyria

   

Hemochromatoses
see hemochromatosis

   

hemochromatosis

   

hemoglobin M disease
see methemoglobinemia#beta-globin type

   

Hemoglobin S disease
see sickle cell anemia

   

hemophilia

   

HEP
see hepatoerythropoietic porphyria

   

hepatic AGT deficiency
see hyperoxaluria, primary

   

hepatoerythropoietic porphyria

   

Hepatolenticular degeneration syndrome
see Wilson disease

   

Hereditary arthro-ophthalmopathy
see Stickler syndrome

   

Hereditary coproporphyria

P

3q12

Hereditary dystopic lipidosis
see Fabry disease

   

Hereditary hemochromatosis (HHC)
see hemochromatosis [4]

   

Hereditary hemorrhagic telangiectasia (HHT)

   

Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration

   

Hereditary iron-loading anemia
see X-linked sideroblastic anemia

   

Hereditary motor and sensory neuropathy
see Charcot-Marie-Tooth disease

   

Hereditary motor neuronopathy
see spinal muscular atrophy

   

Hereditary motor neuronopathy, type V
see distal spinal muscular atrophy, type V

   

Hereditary multiple exostoses

   

Hereditary nonpolyposis colorectal cancer

DNA mismatch repair dysfunction
usually in MSH2 and MLH1 genes

usually chromosomes 2 and 3

Hereditary periodic fever syndrome
see Mediterranean fever, familial

   

Hereditary Polyposis Coli
see familial adenomatous polyposis

   

Hereditary pulmonary emphysema
see alpha 1-antitrypsin deficiency

   

Hereditary resistance to activated protein C
see factor V Leiden thrombophilia

   

Hereditary sensory and autonomic neuropathy type III
see familial dysautonomia

   

Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis

   

Hereditary spinal ataxia
see Friedreich's ataxia

   

Hereditary spinal sclerosis
see Friedreich's ataxia

   

Herrick's anemia
see sickle cell anemia

   

Heterozygous OSMED
seeWeissenbacher-Zweymüller syndrome

   

Heterozygous otospondylomegaepiphyseal dysplasia
seeWeissenbacher-Zweymüller syndrome

   

HexA deficiency
see Tay-Sachs disease

   

Hexosaminidase A deficiency
see Tay-Sachs disease

   

Hexosaminidase alpha-subunit deficiency (variant B)
see Tay-Sachs disease

   

HFE-associated hemochromatosis
see hemochromatosis

   

HGPS
see Progeria

   

Hippel-Lindau disease
see von Hippel-Lindau disease

   

HLAH
see hemochromatosis

   

HMN V
see distal spinal muscular atrophy, type V

   

HMSN
see Charcot-Marie-Tooth disease

   

HNPCC
see hereditary nonpolyposis colorectal cancer

   

HNPP
see hereditary neuropathy with liability to pressure palsies

   

homocystinuria

   

Homogentisic acid oxidase deficiency
see alkaptonuria

   

Homogentisic acidura
see alkaptonuria

   

Homozygous porphyria cutanea tarda
see hepatoerythropoietic porphyria

   

HP1
see hyperoxaluria, primary

   

HP2
see hyperoxaluria, primary

   

HPA
see hyperphenylalaninemia

   

HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome

   

HSAN type III
see familial dysautonomia

   

HSAN3
see familial dysautonomia

   

HSN-III
see familial dysautonomia

   

Human dermatosparaxis
see Ehlers–Danlos syndrome#dermatosparaxis type

   

Huntington's disease

T

4p16.3

Hutchinson-Gilford progeria syndrome
see progeria

   

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
see 21-hydroxylase deficiency

   

Hyperchylomicronemia, familial
see lipoprotein lipase deficiency, familial

   

Hyperglycinemia with ketoacidosis and leukopenia
see propionic acidemia

   

Hyperlipoproteinemia type I
see lipoprotein lipase deficiency, familial

   

hyperoxaluria, primary

   

hyperphenylalaninaemia
see hyperphenylalaninemia

   

hyperphenylalaninemia

   

Hypochondrodysplasia
see hypochondroplasia

   

Hypochondrogenesis

   

Hypochondroplasia

 

4p16.3

Hypochromic anemia
see X-linked sideroblastic anemia

   

Hypocupremia, congenital
see Menkes disease

   

Hypoxanthine phosphoribosyltransferse (HPRT) deficiency
see Lesch-Nyhan syndrome

   

IAHSP
see infantile-onset ascending hereditary spastic paralysis

   

ICF syndrome
see Immunodeficiency, centromere instability and facial anomalies syndrome

 

20q11.2

Idiopathic hemochromatosis
see hemochromatosis, type 3

   

Idiopathic neonatal hemochromatosis
see hemochromatosis, neonatal

   

Idiopathic pulmonary hypertension
see primary pulmonary hypertension

   

Immune system disorders
see X-linked severe combined immunodeficiency

   

Incontinentia pigmenti

P

Xq28

Infantile cerebral Gaucher's disease
see Gaucher disease type 2

   

Infantile Gaucher disease
see Gaucher disease type 2

   

infantile-onset ascending hereditary spastic paralysis

   

Infertility

   

inherited emphysema
see alpha 1-antitrypsin deficiency

   

Inherited human transmissible spongiform encephalopathies
see prion disease

   

inherited tendency to pressure palsies
see hereditary neuropathy with liability to pressure palsies

   

Insley-Astley syndrome
see otospondylomegaepiphyseal dysplasia

   

Intermittent acute porphyria syndrome
see acute intermittent porphyria

   

Intestinal polyposis-cutaneous pigmentation syndrome
seePeutz–Jeghers syndrome

   

IP
see incontinentia pigmenti

   

Iron storage disorder
see hemochromatosis

   

Isodicentric 15
see isodicentric 15

Inv dup

15q11-14

Isolated deafness
see nonsyndromic deafness

   

Jackson-Weiss syndrome

   

JH
see Haemochromatosis#type 2

   

Joubert syndrome

   

JPLS
see Juvenile Primary Lateral Sclerosis

 

ALS2

juvenile amyotrophic lateral sclerosis
see Amyotrophic lateral sclerosis#type 2

   

Juvenile gout, choreoathetosis, mental retardation syndrome
seeLesch-Nyhan syndrome

   

juvenile hyperuricemia syndrome
see Lesch-Nyhan syndrome

   

JWS
see Jackson-Weiss syndrome

   

KD
see X-linked spinal-bulbar muscle atrophy

   

Kennedy disease
see X-linked spinal-bulbar muscle atrophy

   

Kennedy spinal and bulbar muscular atrophy
see X-linked spinal-bulbar muscle atrophy

   

Kerasin histiocytosis
see Gaucher disease

   

Kerasin lipoidosis
see Gaucher disease

   

Kerasin thesaurismosis
see Gaucher disease

   

ketotic glycinemia
see propionic acidemia

   

ketotic hyperglycinemia
see propionic acidemia

   

Kidney diseases
see hyperoxaluria, primary

   

Klinefelter syndrome

   

Klinefelter syndrome
seeKlinefelter syndrome

   

Kniest dysplasia

   

Krabbe disease

   

Lacunar dementia
see CADASIL syndrome

   

Langer-Saldino achondrogenesis
see achondrogenesis, type II

   

Langer-Saldino dysplasia
see achondrogenesis, type II

   

Late-onset Alzheimer disease
see Alzheimer disease#type 2

   

Late-onset familial Alzheimer disease (AD2)
see Alzheimer disease#type 2

   

late-onset Krabbe disease (LOKD)
see Krabbe disease

   

Learning Disorders
see Learning disability

   

Lentiginosis, perioral
see Peutz-Jeghers syndrome

   

Lesch-Nyhan syndrome

   

Leukodystrophies

   

leukodystrophy with Rosenthal fibers
see Alexander disease

   

Leukodystrophy, spongiform
see Canavan disease

   

LFS
seeLi-Fraumeni syndrome

   

Li-Fraumeni syndrome

   

Lipase D deficiency
see lipoprotein lipase deficiency, familial

   

LIPD deficiency
see lipoprotein lipase deficiency, familial

   

Lipidosis, cerebroside
see Gaucher disease

   

Lipidosis, ganglioside, infantile
see Tay-Sachs disease

   

Lipoid histiocytosis (kerasin type)
see Gaucher disease

   

lipoprotein lipase deficiency, familial

   

Liver diseases
see galactosemia

   

Lou Gehrig disease
see amyotrophic lateral sclerosis

   

Louis-Bar syndrome
see ataxia telangiectasia

   

Lynch syndrome
see hereditary nonpolyposis colorectal cancer

   

Lysyl-hydroxylase deficiency
see Ehlers–Danlos syndrome#kyphoscoliosis type

   

Machado-Joseph disease
see Spinocerebellar ataxia#type 3

   

Male breast cancer
see breast cancer

   

Male genital disorders

   

Male Turner syndrome
see Noonan syndrome

   

Malignant neoplasm of breast
see breast cancer

   

malignant tumor of breast
see breast cancer

   

Malignant tumor of urinary bladder
see bladder cancer

   

Mammary cancer
see breast cancer

   

Marfan syndrome

 

15

Marker X syndrome
seefragile X syndrome

   

Martin-Bell syndrome
see fragile X syndrome

   

McCune–Albright syndrome

 

20 q13.2-13.3

McLeod syndrome

 

X

MEDNIK [5]

D

AP1S1

Mediterranean Anemia
seebeta-thalassemia

   

Mediterranean fever, familial

   

Mega-epiphyseal dwarfism
see otospondylomegaepiphyseal dysplasia

   

Menkea syndrome
see Menkes disease

   

Menkes disease

   

Mental retardation with osteocartilaginous abnormalities
see Coffin-Lowry syndrome

   

Metabolic disorders

   

Metatropic dwarfism, type II
see Kniest dysplasia

   

Metatropic dysplasia type II
see Kniest dysplasia

   

Methemoglobinemia#beta-globin type

   

methylmalonic acidemia

   

MFS
see Marfan syndrome

   

MHAM
see Cowden syndrome

   

MK
see Menkes disease

   

Micro syndrome

 

2q21.3

Microcephaly

P

1q31 (ASPM)

MMA
see methylmalonic acidemia

   

MNK
see Menkes disease

   

Monosomy 1p36 syndrome
see 1p36 deletion syndrome

D

1p36

monosomy X
see Turner syndrome

   

Motor neuron disease, amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis

   

Movement disorders

   

Mowat-Wilson syndrome

   

Mucopolysaccharidosis (MPS I)

   

Mucoviscidosis
see cystic fibrosis

   

Muenke syndrome

   

Multi-Infarct dementia
seeCADASIL syndrome

   

Multiple carboxylase deficiency, late-onset
see biotinidase deficiency

   

Multiple hamartoma syndrome
see Cowden syndrome

   

Multiple neurofibromatosis
see neurofibromatosis

   

Muscular dystrophy

   

Muscular dystrophy, Duchenne and Becker type

   

Myotonia atrophica
see myotonic dystrophy

   

Myotonia dystrophica
see myotonic dystrophy

   

myotonic dystrophy

   

Myxedema, congenital
see congenital hypothyroidism

   

Nance-Insley syndrome
see otospondylomegaepiphyseal dysplasia

   

Nance-Sweeney chondrodysplasia
see otospondylomegaepiphyseal dysplasia

   

NBIA1
see pantothenate kinase-associated neurodegeneration

   

Neill-Dingwall syndrome
see Cockayne syndrome

   

Neuroblastoma, retinal
see retinoblastoma

   

Neurodegeneration with brain iron accumulation type 1
see pantothenate kinase-associated neurodegeneration

   

Neurofibromatosis type I

 

17q11.2

Neurofibromatosis type II

   

Neurologic diseases

   

Neuromuscular disorders

   

neuronopathy, distal hereditary motor, type V
see Distal spinal muscular atrophy#type V

   

neuronopathy, distal hereditary motor, with pyramidal features
see Amyotrophic lateral sclerosis#type 4

   

Niemann-Pick
see Niemann–Pick disease

NPA, NPB, NPC1, NPC2,
Sphingomyelin phosphodiesterase 1

SMPD1

Noack syndrome
see Pfeiffer syndrome

   

Nonketotic hyperglycinemia
see Glycine encephalopathy

   

Non-neuronopathic Gaucher disease
seeGaucher disease type 1

   

Non-phenylketonuric hyperphenylalaninemia
seetetrahydrobiopterin deficiency

   

nonsyndromic deafness

   

Noonan syndrome

   

Norrbottnian Gaucher disease
see Gaucher disease type 3

   

Ochronosis
see alkaptonuria

   

Ochronotic arthritis
see alkaptonuria

   

OI
see osteogenesis imperfecta

   

Osler-Weber-Rendu disease
see Hereditary hemorrhagic telangiectasia

   

OSMED
see otospondylomegaepiphyseal dysplasia

   

osteogenesis imperfecta

   

Osteopsathyrosis
see osteogenesis imperfecta

   

Osteosclerosis congenita
see achondroplasia

   

Oto-spondylo-megaepiphyseal dysplasia
see otospondylomegaepiphyseal dysplasia

   

otospondylomegaepiphyseal dysplasia

   

Oxalosis
see hyperoxaluria, primary

   

Oxaluria, primary
see hyperoxaluria, primary

   

pantothenate kinase-associated neurodegeneration

   

Patau Syndrome (Trisomy 13)

   

PBGD deficiency
see acute intermittent porphyria

   

PCC deficiency
see propionic acidemia

   

PCT
seeporphyria cutanea tarda

   

PDM
see Myotonic dystrophy#type 2

   

Pendred syndrome

   

Periodic disease
see Mediterranean fever, familial

   

Periodic peritonitis
see Mediterranean fever, familial

   

Periorificial lentiginosis syndrome
seePeutz-Jeghers syndrome

   

Peripheral nerve disorders
see familial dysautonomia

   

Peripheral neurofibromatosis
see neurofibromatosis type I

   

Peroneal muscular atrophy
see Charcot-Marie-Tooth disease

   

peroxisomal alanine:glyoxylate aminotransferase deficiency
see hyperoxaluria, primary

   

Peutz-Jeghers syndrome

   

Pfeiffer syndrome

   

Phenylalanine hydroxylase deficiency disease
see phenylketonuria

   

phenylketonuria

   

Pheochromocytoma
see von Hippel-Lindau disease

   

Pierre Robin syndrome with fetal chondrodysplasia
see Weissenbacher-Zweymüller syndrome

   

Pigmentary cirrhosis
see hemochromatosis

   

PJS
see Peutz-Jeghers syndrome

   

PKAN
see pantothenate kinase-associated neurodegeneration

   

PKU
see phenylketonuria

   

Plumboporphyria
see ALA deficiency porphyria

   

PMA
see Charcot-Marie-tooth disease

   

Polycystic kidney disease

P

16 (PKD1) or 4 (PKD2)

polyostotic fibrous dysplasia
see McCune–Albright syndrome

 

20 q13.2-13.3

polyposis coli
see familial adenomatous polyposis

   

polyposis, hamartomatous intestinal
seePeutz-Jeghers syndrome

   

polyposis, intestinal, II
see Peutz-Jeghers syndrome

   

polyps-and-spots syndrome
see Peutz-Jeghers syndrome

   

Porphobilinogen synthase deficiency
see ALA deficiency porphyria

   

porphyria

   

porphyrin disorder
see porphyria

   

PPH
see primary pulmonary hypertension

   

PPOX deficiency
see variegate porphyria

   

Prader-Labhart-Willi syndrome
see Prader-Willi syndrome

   

Prader-Willi syndrome

   

presenile and senile dementia
see Alzheimer's disease

   

primary hemochromatosis
see hemochromatosis

   

primary hyperuricemia syndrome
see Lesch-Nyhan syndrome

   

primary pulmonary hypertension

   

primary senile degenerative dementia
see Alzheimer's disease

   

prion disease

   

procollagen type EDS VII, mutant
see Ehlers–Danlos syndrome#arthrochalasia type

   

progeria
see Hutchinson Gilford Progeria Syndrome

   

Progeria-like syndrome
see Cockayne syndrome

   

progeroid nanism
see Cockayne syndrome

   

progressive chorea, chronic hereditary (Huntington)
see Huntington's disease

   

progressive muscular atrophy
see spinal muscular atrophy

   

progressively deforming osteogenesis imperfecta with normal sclerae
see Osteogenesis imperfecta#Type III

   

PROMM
see Myotonic dystrophy#type 2

   

propionic acidemia

   

propionyl-CoA carboxylase deficiency
see propionic acidemia

   

protein C deficiency

   

protein S deficiency

   

protoporphyria
see erythropoietic protoporphyria

   

protoporphyrinogen oxidase deficiency
see variegate porphyria

   

proximal myotonic dystrophy
see Myotonic dystrophy#type 2

   

proximal myotonic myopathy
see Myotonic dystrophy#type 2

   

pseudo-Gaucher disease

   

pseudo-Ullrich-Turner syndrome
see Noonan syndrome

   

pseudoxanthoma elasticum

   

psychosine lipidosis
see Krabbe disease

   

pulmonary arterial hypertension
see primary pulmonary hypertension

   

pulmonary hypertension
see primary pulmonary hypertension

   

PWS
see Prader-Willi syndrome

   

PXE - pseudoxanthoma elasticum
see pseudoxanthoma elasticum

   

Rb
see retinoblastoma

   

Recklinghausen disease, nerve
see neurofibromatosis type I

   

Recurrent polyserositis
see Mediterranean fever, familial

   

Retinal disorders

   

Retinitis pigmentosa-deafness syndrome
see Usher syndrome

   

Retinoblastoma

   

Rett syndrome

   

RFALS type 3
see Amyotrophic lateral sclerosis#type 2

   

Ricker syndrome
see Myotonic dystrophy#type 2

   

Riley-Day syndrome
see familial dysautonomia

   

Roussy-Levy syndrome
see Charcot-Marie-Tooth disease

   

RSTS
see Rubinstein-Taybi syndrome

   

RTS
see Rett syndrome
see Rubinstein-Taybi syndrome

   

RTT
see Rett syndrome

   

Rubinstein-Taybi syndrome

   

Sack-Barabas syndrome
see Ehlers–Danlos syndrome, vascular type

   

SADDAN

   

sarcoma family syndrome of Li and Fraumeni
seeLi-Fraumeni syndrome

   

sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
seeLi-Fraumeni syndrome

   

SBLA syndrome
seeLi-Fraumeni syndrome

   

SBMA
see X-linked spinal-bulbar muscle atrophy

   

SCD
see sickle cell anemia

   

Schwannoma, acoustic, bilateral
see neurofibromatosis type II

   

SCIDX1
see X-linked severe combined immunodeficiency

   

sclerosis tuberosa
see tuberous sclerosis

   

SDAT
see Alzheimer's disease

   

SED congenita
see spondyloepiphyseal dysplasia congenita

   

SED Strudwick
see spondyloepimetaphyseal dysplasia, Strudwick type

   

SEDc
see spondyloepiphyseal dysplasia congenita

   

SEMD, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type

   

senile dementia
see Alzheimer disease#type 2

   

severe achondroplasia with developmental delay and acanthosis nigricans
see SADDAN

   

Shprintzen syndrome
see22q11.2 deletion syndrome

D

22q

sickle cell anemia

D

18q

Siderius X-linked mental retardation syndrome
caused by mutations in the PHF8 gene

PD

Xp11.22

skeleton-skin-brain syndrome
see SADDAN

   

Skin pigmentation disorders

   

SMA
see spinal muscular atrophy

   

SMED, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type

   

SMED, type I
see spondyloepimetaphyseal dysplasia, Strudwick type

   

Smith-Lemli-Opitz syndrome

   

Smith Magenis Syndrome

   

South-African genetic porphyria
see variegate porphyria

   

spastic paralysis, infantile onset ascending
see infantile-onset ascending hereditary spastic paralysis

   

Speech and communication disorders

   

sphingolipidosis, Tay-Sachs
see Tay-Sachs disease

   

spinal-bulbar muscular atrophy

   

spinal muscular atrophy

   

spinal muscular atrophy, distal type V
see Distal spinal muscular atrophy#type V

   

spinal muscular atrophy, distal, with upper limb predominance
see Distal spinal muscular atrophy#type V

   

spinocerebellar ataxia

   

spondyloepimetaphyseal dysplasia, Strudwick type

   

spondyloepiphyseal dysplasia congenita

   

spondyloepiphyseal dysplasia
see collagenopathy, types II and XI

   

spondylometaepiphyseal dysplasia congenita, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type

   

spondylometaphyseal dysplasia (SMD)
see spondyloepimetaphyseal dysplasia, Strudwick type

   

spondylometaphyseal dysplasia, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type

   

spongy degeneration of central nervous system
see Canavan disease

   

spongy degeneration of the brain
see Canavan disease

   

spongy degeneration of white matter in infancy
see Canavan disease

   

sporadic primary pulmonary hypertension
see primary pulmonary hypertension

   

SSB syndrome
see SADDAN

   

steely hair syndrome
see Menkes disease

   

Steinert disease
see myotonic dystrophy

   

Steinert myotonic dystrophy syndrome
see myotonic dystrophy

   

Stickler syndrome

   

stroke
see CADASIL syndrome

   

Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type

   

subacute neuronopathic Gaucher disease
seeGaucher disease type 3

   

Swedish genetic porphyria
see acute intermittent porphyria

   

Swedish porphyria
see acute intermittent porphyria

   

Swiss cheese cartilage dysplasia
see Kniest dysplasia

   

Tay-Sachs disease

   

TD - thanatophoric dwarfism
see thanatophoric dysplasia

   

TD with straight femurs and cloverleaf skull
see thanatophoric dysplasia#Type 2

   

Telangiectasia, cerebello-oculocutaneous
see ataxia telangiectasia

   

Testicular feminization syndrome
see androgen insensitivity syndrome

   

tetrahydrobiopterin deficiency

   

TFM - testicular feminization syndrome
see androgen insensitivity syndrome

   

thalassemia intermedia
see beta-thalassemia

   

Thalassemia Major
see beta-thalassemia

   

thanatophoric dysplasia

   

Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type
see factor V Leiden thrombophilia

   

Thyroid disease

   

Tomaculous neuropathy
see hereditary neuropathy with liability to pressure palsies

   

Total HPRT deficiency
see Lesch-Nyhan syndrome

   

Total hypoxanthine-guanine phosphoribosyl transferase deficiency
see Lesch-Nyhan syndrome

   

Transmissible dementias
see prion disease

   

Transmissible spongiform encephalopathies
see prion disease

   

Treacher Collins syndrome

 

5q32-q33.1

Trias fragilitis ossium
see osteogenesis imperfecta#Type I

   

triple X syndrome

   

Triplo X syndrome
see triple X syndrome

   

Trisomy 21
see Down syndrome

   

Trisomy X
see triple X syndrome

   

Troisier-Hanot-Chauffard syndrome
see hemochromatosis

   

TS
see Turner syndrome

   

TSD
see Tay-Sachs disease

   

TSEs
see prion disease

   

tuberose sclerosis
see tuberous sclerosis

   

tuberous sclerosis

   

Turner syndrome

   

Turner syndrome in female with X chromosome
see Noonan syndrome

   

Turner's phenotype, karyotype normal
see Noonan syndrome

   

Turner's syndrome
see Turner syndrome

   

Turner-like syndrome
see Noonan syndrome

   

Type 2 Gaucher disease
see Gaucher disease type 2

   

Type 3 Gaucher disease
see Gaucher disease type 3

   

UDP-galactose-4-epimerase deficiency disease
see galactosemia

   

UDP glucose 4-epimerase deficiency disease
see galactosemia

   

UDP glucose hexose-1-phosphate uridylyltransferase deficiency
see galactosemia

   

Ullrich-Noonan syndrome
see Noonan syndrome

   

Ullrich-Turner syndrome
see Turner syndrome

   

Undifferentiated deafness
see nonsyndromic deafness

   

UPS deficiency
see acute intermittent porphyria

   

Urinary bladder cancer
see bladder cancer

   

UROD deficiency
see porphyria cutanea tarda

   

Uroporphyrinogen decarboxylase deficiency
see porphyria cutanea tarda

   

Uroporphyrinogen synthase deficiency
see acute intermittent porphyria

   

UROS deficiency
see congenital erythropoietic porphyria

   

Usher syndrome

   

UTP hexose-1-phosphate uridylyltransferase deficiency
see galactosemia

   

Van Bogaert-Bertrand syndrome
see Canavan disease

   

Van der Hoeve syndrome
see osteogenesis imperfecta#Type I

   

variegate porphyria

   

Velocardiofacial syndrome
see 22q11.2 deletion syndrome

D

22q

VHL syndrome
see von Hippel-Lindau disease

   

Vision impairment and blindness
see Alström syndrome

   

Von Bogaert-Bertrand disease
see Canavan disease

   

von Hippel-Lindau disease

   

Von Recklenhausen-Applebaum disease
seehemochromatosis

   

von Recklinghausen disease
see neurofibromatosis type I

   

VP
see variegate porphyria

   

Vrolik disease
see osteogenesis imperfecta

   

Waardenburg syndrome

   

Warburg Sjo Fledelius Syndrome
see Micro syndrome

 

2q21.3

WD
see Wilson disease

   

Weissenbacher-Zweymüller syndrome

   

Williams Syndrome

   

Wilson disease

   

Wilson's disease
see Wilson disease

   

Wolf–Hirschhorn syndrome

D

4p

Wolff Periodic disease
see Mediterranean fever, familial

   

WZS
seeWeissenbacher-Zweymüller syndrome

   

Xeroderma pigmentosum

ERCC4

15

X-linked mental retardation and macroorchidism
see fragile X syndrome

   

X-linked primary hyperuricemia
see Lesch-Nyhan syndrome

   

X-linked severe combined immunodeficiency

   

X-linked sideroblastic anemia

   

X-linked spinal-bulbar muscle atrophy
see Kennedy's disease

   

X-linked uric aciduria enzyme defect
see Lesch-Nyhan syndrome

   

X-SCID
see X-linked severe combined immunodeficiency

   

XLSA
see X-linked sideroblastic anemia

   

XSCID
see X-linked severe combined immunodeficiency

   

XXX syndrome
see triple X syndrome

   

XXXX syndrome
see 48, XXXX

   

XXXXX syndrome
see 49, XXXXX

   

XXY syndrome
see Klinefelter syndrome

   

XXY trisomy
see Klinefelter syndrome

   

XYY karyotype
see 47,XYY syndrome

   

XYY syndrome
see47,XYY syndrome

   

YY syndrome
see47,XYY syndrome

   

Από τη Βικιπαίδεια, την ελεύθερη εγκυκλοπαίδεια

Πηγή  http://en.wikipedia.org/wiki/List_of_genetic_disorders



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Πηγή http://www.dmoz.org/Health/Conditions_and_Diseases/Genetic_Disorders/

 

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