MCID: MTR049
MIFTS: 13

Maternally-Inherited Cardiomyopathy and Hearing Loss malady

Categories: Rare diseases, Ear diseases, Cardiovascular diseases

Aliases & Classifications for Maternally-Inherited Cardiomyopathy and Hearing Loss

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

Name: Maternally-Inherited Cardiomyopathy and Hearing Loss 56
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 56
Maternally-Inherited Cardiomyopathy and Deafness 56

Characteristics:

Orphanet epidemiological data:

56
maternally-inherited cardiomyopathy and hearing loss
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: adult;

Classifications:



External Ids:

Orphanet 56 ORPHA1349
ICD10 via Orphanet 34 I42.8

Summaries for Maternally-Inherited Cardiomyopathy and Hearing Loss

MalaCards based summary : Maternally-Inherited Cardiomyopathy and Hearing Loss, is also known as trna-lys-related cardiomyopathy-hearing loss syndrome, and has symptoms including sensorineural hearing impairment, ataxia and gait disturbance. 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

Symptoms & Phenotypes for Maternally-Inherited Cardiomyopathy and Hearing Loss

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

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
2 ataxia 56 32 Very frequent (99-80%) HP:0001251
3 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
4 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
5 slurred speech 56 32 Very frequent (99-80%) HP:0001350
6 hypertrophic cardiomyopathy 56 32 Very frequent (99-80%) HP:0001639
7 mild global developmental delay 56 32 Very frequent (99-80%) HP:0011342
8 progressive external ophthalmoplegia 56 32 Frequent (79-30%) HP:0000590
9 mental deterioration 56 32 Frequent (79-30%) HP:0001268
10 encephalopathy 56 32 Frequent (79-30%) HP:0001298
11 congestive heart failure 56 32 Frequent (79-30%) HP:0001635
12 dilated cardiomyopathy 56 32 Frequent (79-30%) HP:0001644
13 dyspnea 56 32 Frequent (79-30%) HP:0002094
14 increased serum lactate 56 32 Frequent (79-30%) HP:0002151
15 ragged-red muscle fibers 56 32 Frequent (79-30%) HP:0003200
16 emg abnormality 56 32 Frequent (79-30%) HP:0003457
17 increased serum pyruvate 56 32 Frequent (79-30%) HP:0003542
18 exercise intolerance 56 32 Frequent (79-30%) HP:0003546
19 lower limb pain 56 32 Frequent (79-30%) HP:0012514
20 hypertension 56 32 Occasional (29-5%) HP:0000822
21 multiple lipomas 56 32 Occasional (29-5%) HP:0001012
22 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
23 febrile seizures 56 32 Occasional (29-5%) HP:0002373
24 myalgia 56 32 Occasional (29-5%) HP:0003326
25 increased adipose tissue 56 32 Occasional (29-5%) HP:0009126
26 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
27 fatigue 56 32 Occasional (29-5%) HP:0012378
28 chest pain 56 32 Occasional (29-5%) HP:0100749
29 ophthalmoparesis 56 Frequent (79-30%)
30 abnormality of cardiovascular system morphology 56 Frequent (79-30%)

Drugs & Therapeutics for Maternally-Inherited Cardiomyopathy and Hearing Loss

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for Maternally-Inherited Cardiomyopathy and Hearing Loss

Anatomical Context for Maternally-Inherited Cardiomyopathy and Hearing Loss

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

39
Heart

Publications for Maternally-Inherited Cardiomyopathy and Hearing Loss

Variations for Maternally-Inherited Cardiomyopathy and Hearing Loss

Expression for Maternally-Inherited Cardiomyopathy and Hearing Loss

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

Pathways for Maternally-Inherited Cardiomyopathy and Hearing Loss

GO Terms for Maternally-Inherited Cardiomyopathy and Hearing Loss

Sources for Maternally-Inherited Cardiomyopathy and Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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