MCID: MTR049
MIFTS: 12

Maternally-Inherited Cardiomyopathy and Hearing Loss malady

Categories: Rare diseases, Ear diseases, Cardiovascular diseases

Aliases & Classifications for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Maternally-Inherited Cardiomyopathy and Hearing Loss:

Name: Maternally-Inherited Cardiomyopathy and Hearing Loss 54
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 54
 
Maternally-Inherited Cardiomyopathy and Deafness 54

Characteristics:

Orphanet epidemiological data:

54
trna-lys-related cardiomyopathy-hearing loss syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: adult

Classifications:



External Ids:

Orphanet54 ORPHA1349
ICD10 via Orphanet31 I42.8

Summaries for Maternally-Inherited Cardiomyopathy and Hearing Loss

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MalaCards based summary: Maternally-Inherited Cardiomyopathy and Hearing Loss, is also known as trna-lys-related cardiomyopathy-hearing loss syndrome, and has symptoms including Array, Array and Array. An important gene associated with Maternally-Inherited Cardiomyopathy and Hearing Loss is MT-TK (Mitochondrially Encoded TRNA Lysine). Affiliated tissues include heart.

Related Diseases for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Symptoms & Phenotypes for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Human phenotypes related to Maternally-Inherited Cardiomyopathy and Hearing Loss:

 54 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment54 Very frequent (99-80%)
2 ataxia54 Very frequent (99-80%)
3 gait disturbance54 Very frequent (99-80%)
4 muscle weakness54 Very frequent (99-80%)
5 slurred speech54 Very frequent (99-80%)
6 hypertrophic cardiomyopathy54 Very frequent (99-80%)
7 mild global developmental delay54 Very frequent (99-80%)
8 progressive external ophthalmoplegia54 Frequent (79-30%)
9 ophthalmoparesis54 Frequent (79-30%)
10 mental deterioration54 Frequent (79-30%)
11 encephalopathy54 Frequent (79-30%)
12 congestive heart failure54 Frequent (79-30%)
13 dilated cardiomyopathy54 Frequent (79-30%)
14 dyspnea54 Frequent (79-30%)
15 increased serum lactate54 Frequent (79-30%)
16 ragged-red muscle fibers54 Frequent (79-30%)
17 emg abnormality54 Frequent (79-30%)
18 increased serum pyruvate54 Frequent (79-30%)
19 exercise intolerance54 Frequent (79-30%)
20 lower limb pain54 Frequent (79-30%)
21 abnormality of cardiovascular system morphology54 Frequent (79-30%)
22 hypertension54 Occasional (29-5%)
23 multiple lipomas54 Occasional (29-5%)
24 hyperreflexia54 Occasional (29-5%)
25 febrile seizures54 Occasional (29-5%)
26 myalgia54 Occasional (29-5%)
27 increased adipose tissue54 Occasional (29-5%)
28 peripheral neuropathy54 Occasional (29-5%)
29 fatigue54 Occasional (29-5%)
30 chest pain54 Occasional (29-5%)

Drugs & Therapeutics for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Maternally-Inherited Cardiomyopathy and Hearing Loss

Genetic Tests for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Anatomical Context for Maternally-Inherited Cardiomyopathy and Hearing Loss

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MalaCards organs/tissues related to Maternally-Inherited Cardiomyopathy and Hearing Loss:

36
Heart

Publications for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Variations for Maternally-Inherited Cardiomyopathy and Hearing Loss

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Expression for genes affiliated with Maternally-Inherited Cardiomyopathy and Hearing Loss

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Search GEO for disease gene expression data for Maternally-Inherited Cardiomyopathy and Hearing Loss.

Pathways for genes affiliated with Maternally-Inherited Cardiomyopathy and Hearing Loss

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GO Terms for genes affiliated with Maternally-Inherited Cardiomyopathy and Hearing Loss

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Sources for Maternally-Inherited Cardiomyopathy and Hearing Loss

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet