MCID: MTR049
MIFTS: 17

Maternally-Inherited Cardiomyopathy and Hearing Loss

Categories: Cardiovascular diseases, Ear 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 55
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 55
Maternally-Inherited Cardiomyopathy and Deafness 55

Characteristics:

Orphanet epidemiological data:

55
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, 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:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
5 slurred speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001350
6 hypertrophic cardiomyopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001639
7 mild global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011342
8 progressive external ophthalmoplegia 55 31 frequent (33%) Frequent (79-30%) HP:0000590
9 mental deterioration 55 31 frequent (33%) Frequent (79-30%) HP:0001268
10 encephalopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001298
11 congestive heart failure 55 31 frequent (33%) Frequent (79-30%) HP:0001635
12 dilated cardiomyopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001644
13 dyspnea 55 31 frequent (33%) Frequent (79-30%) HP:0002094
14 increased serum lactate 55 31 frequent (33%) Frequent (79-30%) HP:0002151
15 ragged-red muscle fibers 55 31 frequent (33%) Frequent (79-30%) HP:0003200
16 emg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0003457
17 increased serum pyruvate 55 31 frequent (33%) Frequent (79-30%) HP:0003542
18 exercise intolerance 55 31 frequent (33%) Frequent (79-30%) HP:0003546
19 lower limb pain 55 31 frequent (33%) Frequent (79-30%) HP:0012514
20 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
21 multiple lipomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001012
22 hyperreflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001347
23 febrile seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002373
24 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
25 increased adipose tissue 55 31 occasional (7.5%) Occasional (29-5%) HP:0009126
26 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
27 fatigue 55 31 occasional (7.5%) Occasional (29-5%) HP:0012378
28 chest pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0100749
29 ophthalmoparesis 55 Frequent (79-30%)
30 abnormality of cardiovascular system morphology 55 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:

38
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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