MCID: MTC179
MIFTS: 16

Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

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

Aliases & Classifications for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

MalaCards integrated aliases for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss:

Name: Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 58
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 58
Maternally-Inherited Cardiomyopathy and Deafness 58
Mtdna-Related Cardiomyopathy and Hearing Loss 58
Mtdna-Related Cardiomyopathy and Deafness 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna-related cardiomyopathy and hearing loss
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

MalaCards based summary : Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss, is also known as trna-lys-related cardiomyopathy-hearing loss syndrome. An important gene associated with Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss is MT-TK (Mitochondrially Encoded TRNA-Lys (AAA/G)). Affiliated tissues include heart, and related phenotypes are ataxia and gait disturbance

Related Diseases for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Symptoms & Phenotypes for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Human phenotypes related to Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 slurred speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001350
6 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
7 mild global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011342
8 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
9 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
10 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
11 progressive external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000590
12 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
13 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
14 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
15 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
16 encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001298
17 increased serum pyruvate 58 31 frequent (33%) Frequent (79-30%) HP:0003542
18 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
19 lower limb pain 58 31 frequent (33%) Frequent (79-30%) HP:0012514
20 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
21 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
22 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
23 multiple lipomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001012
24 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
25 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
26 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
27 increased adipose tissue 58 31 occasional (7.5%) Occasional (29-5%) HP:0009126
28 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
29 ophthalmoparesis 58 Frequent (79-30%)
30 abnormality of cardiovascular system morphology 58 Frequent (79-30%)
31 febrile seizures 58 Occasional (29-5%)

Drugs & Therapeutics for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Genetic Tests for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Anatomical Context for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

MalaCards organs/tissues related to Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss:

40
Heart

Publications for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Variations for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Expression for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Search GEO for disease gene expression data for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss.

Pathways for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

GO Terms for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

Sources for Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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