MCID: MTR049
MIFTS: 17

Maternally-Inherited Cardiomyopathy and Hearing Loss

Categories: Rare diseases, Ear diseases, Cardiovascular diseases

Aliases & Classifications for Maternally-Inherited Cardiomyopathy and Hearing Loss

MalaCards integrated aliases for Maternally-Inherited Cardiomyopathy and Hearing Loss:

Name: Maternally-Inherited Cardiomyopathy and Hearing Loss 59
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 59
Maternally-Inherited Cardiomyopathy and Deafness 59

Characteristics:

Orphanet epidemiological data:

59
maternally-inherited cardiomyopathy and hearing loss
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: adult;

Classifications:



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. An important gene associated with Maternally-Inherited Cardiomyopathy and Hearing Loss is MT-TK (Mitochondrially Encoded TRNA Lysine). Affiliated tissues include heart, and related phenotypes are sensorineural hearing impairment and ataxia

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 slurred speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001350
6 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
7 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
8 progressive external ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000590
9 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
10 encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001298
11 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
12 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
13 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
14 increased serum lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002151
15 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
16 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
17 increased serum pyruvate 59 32 frequent (33%) Frequent (79-30%) HP:0003542
18 exercise intolerance 59 32 frequent (33%) Frequent (79-30%) HP:0003546
19 lower limb pain 59 32 frequent (33%) Frequent (79-30%) HP:0012514
20 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
21 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
22 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
23 febrile seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002373
24 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
25 increased adipose tissue 59 32 occasional (7.5%) Occasional (29-5%) HP:0009126
26 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
27 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
28 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
29 ophthalmoparesis 59 Frequent (79-30%)
30 abnormality of cardiovascular system morphology 59 Frequent (79-30%)

Drugs & Therapeutics for Maternally-Inherited Cardiomyopathy and Hearing Loss

Search Clinical Trials , 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:

41
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
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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