MCID: MTR049
MIFTS: 17

Maternally-Inherited Cardiomyopathy and Hearing Loss

Categories: Cardiovascular diseases, Ear diseases, Metabolic diseases, Rare 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:

Orphanet: 59  
Inborn errors of metabolism


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