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 60
Trna-Lys-Related Cardiomyopathy-Hearing Loss Syndrome 60
Maternally-Inherited Cardiomyopathy and Deafness 60
Mtdna-Related Cardiomyopathy and Hearing Loss 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
3 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
4 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
5 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
6 slurred speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001350
7 mild global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011342
8 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
9 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
10 congestive heart failure 60 33 frequent (33%) Frequent (79-30%) HP:0001635
11 dilated cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001644
12 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
13 ragged-red muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003200
14 progressive external ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000590
15 mental deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0001268
16 exercise intolerance 60 33 frequent (33%) Frequent (79-30%) HP:0003546
17 lower limb pain 60 33 frequent (33%) Frequent (79-30%) HP:0012514
18 encephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001298
19 increased serum pyruvate 60 33 frequent (33%) Frequent (79-30%) HP:0003542
20 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
21 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
22 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
23 peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009830
24 multiple lipomas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001012
25 myalgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003326
26 febrile seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002373
27 chest pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0100749
28 increased adipose tissue 60 33 occasional (7.5%) Occasional (29-5%) HP:0009126
29 ophthalmoparesis 60 Frequent (79-30%)
30 abnormality of cardiovascular system morphology 60 Frequent (79-30%)

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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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