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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

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

Name: Maternally-Inherited Cardiomyopathy and Hearing Loss 53
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 53
 
Maternally-Inherited Cardiomyopathy and Deafness 53

Characteristics:

Orphanet epidemiological data:

53
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:

Orphanet53 ORPHA1349
ICD10 via Orphanet30 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 for Maternally-Inherited Cardiomyopathy and Hearing Loss

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

 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment53 Very frequent (99-80%)
2 ataxia53 Very frequent (99-80%)
3 gait disturbance53 Very frequent (99-80%)
4 muscle weakness53 Very frequent (99-80%)
5 slurred speech53 Very frequent (99-80%)
6 hypertrophic cardiomyopathy53 Very frequent (99-80%)
7 mild global developmental delay53 Very frequent (99-80%)
8 progressive external ophthalmoplegia53 Frequent (79-30%)
9 ophthalmoparesis53 Frequent (79-30%)
10 mental deterioration53 Frequent (79-30%)
11 encephalopathy53 Frequent (79-30%)
12 congestive heart failure53 Frequent (79-30%)
13 dilated cardiomyopathy53 Frequent (79-30%)
14 dyspnea53 Frequent (79-30%)
15 increased serum lactate53 Frequent (79-30%)
16 ragged-red muscle fibers53 Frequent (79-30%)
17 emg abnormality53 Frequent (79-30%)
18 increased serum pyruvate53 Frequent (79-30%)
19 exercise intolerance53 Frequent (79-30%)
20 lower limb pain53 Frequent (79-30%)
21 abnormality of cardiovascular system morphology53 Frequent (79-30%)
22 hypertension53 Occasional (29-5%)
23 multiple lipomas53 Occasional (29-5%)
24 hyperreflexia53 Occasional (29-5%)
25 febrile seizures53 Occasional (29-5%)
26 myalgia53 Occasional (29-5%)
27 increased adipose tissue53 Occasional (29-5%)
28 peripheral neuropathy53 Occasional (29-5%)
29 fatigue53 Occasional (29-5%)
30 chest pain53 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:

35
Heart

Animal Models for Maternally-Inherited Cardiomyopathy and Hearing Loss or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet