ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr:
OMIM Id: 208910
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000524) Conjunctival telangiectasia 17 / 7739
2
 (HPO:0000657) Oculomotor apraxia 54 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0001332) Dystonia 197 / 7739
5
 (HPO:0009473) Joint contracture of the hand 84 / 7739
6
 (HPO:0007380) Facial telangiectasia 3 / 7739
7
 (HPO:0007440) Generalized hyperpigmentation 11 / 7739
8
 (HPO:0001909) Leukemia 46 / 7739
9
 (HPO:0002720) IgA deficiency 33 / 7739
10
 (HPO:0001952) Abnormal glucose tolerance 9 / 7739
11
 (HPO:0006254) Elevated alpha-fetoprotein 10 / 7739
12
 (HPO:0003220) Abnormality of chromosome stability 98 / 7739
13
 (HPO:0000777) Abnormality of the thymus 9 / 7739
14
 (HPO:0007181) Interosseus muscle atrophy 3 / 7739
15
 (HPO:0009067) Progressive spinal muscular atrophy 1 / 7739
16
 (OMIM) Flexion-extension finger contractures 1 / 7739
17
 (OMIM) Hypoplasia 2 / 7739
18
 (MedDRA:10050389) Cerebral ataxia 1 / 7739
19
 (OMIM) Phytohemagglutinin response impaired 1 / 7739
20
 (HPO:0001522) Death in infancy 275 / 7739
21
 (OMIM) Anergy to skin testing 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Hyperpigmentation, marked generalized 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: