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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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

Human phenotypes related to Ataxia, Deafness, and Cardiomyopathy:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 sensorineural hearing impairment 33 HP:0000407
4 cardiomyopathy 33 HP:0001638
5 abnormality of the skin 33 HP:0000951

Symptoms via clinical synopsis from OMIM:

58
Neuro:
ataxia
mental retardation

Ears:
deafness
sensorineural hearing loss

Cardiovascular:
cardiomyopathy

Skin:
lentigines

Clinical features from OMIM:

208750

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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