MCID: ATX044
MIFTS: 11

Ataxia, Deafness, and Cardiomyopathy

Categories: Cardiovascular diseases, Ear diseases

Aliases & Classifications for Ataxia, Deafness, and Cardiomyopathy

MalaCards integrated aliases for Ataxia, Deafness, and Cardiomyopathy:

Name: Ataxia, Deafness, and Cardiomyopathy 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ataxia, deafness, and cardiomyopathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia, Deafness, and Cardiomyopathy

MalaCards based summary : Ataxia, Deafness, and Cardiomyopathy Affiliated tissues include skin, and related phenotypes are intellectual disability and ataxia

Description from OMIM: 208750

Related Diseases for Ataxia, Deafness, and Cardiomyopathy

Symptoms & Phenotypes for Ataxia, Deafness, and Cardiomyopathy

Symptoms via clinical synopsis from OMIM:

57
Neuro:
ataxia
mental retardation

Ears:
deafness
sensorineural hearing loss

Cardiovascular:
cardiomyopathy

Skin:
lentigines


Clinical features from OMIM:

208750

Human phenotypes related to Ataxia, Deafness, and Cardiomyopathy:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 sensorineural hearing impairment 32 HP:0000407
4 cardiomyopathy 32 HP:0001638
5 abnormality of the skin 32 HP:0000951

Drugs & Therapeutics for Ataxia, Deafness, and Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Ataxia, Deafness, and Cardiomyopathy

Genetic Tests for Ataxia, Deafness, and Cardiomyopathy

Anatomical Context for Ataxia, Deafness, and Cardiomyopathy

MalaCards organs/tissues related to Ataxia, Deafness, and Cardiomyopathy:

41
Skin

Publications for Ataxia, Deafness, and Cardiomyopathy

Variations for Ataxia, Deafness, and Cardiomyopathy

Expression for Ataxia, Deafness, and Cardiomyopathy

Search GEO for disease gene expression data for Ataxia, Deafness, and Cardiomyopathy.

Pathways for Ataxia, Deafness, and Cardiomyopathy

GO Terms for Ataxia, Deafness, and Cardiomyopathy

Sources for Ataxia, Deafness, and Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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