Maternally-inherited cardiomyopathy and hearing loss

General Information (adopted from Orphanet):

Synonyms, Signs: tRNA-LYS-related cardiomyopathy-hearing loss
Maternally-inherited cardiomyopathy and deafness
Number of Symptoms 11
OrphanetNr: 1349
OMIM Id:
ICD-10: I42.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 1 of 100 000
Inheritance: Mitochondrial
8651277 [IBIS]
Age of onset: Childhood
Adult
8651277 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

G8363A mutation in the mtDNA tRNA(Lys) gene was associated, in two unrelated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hypertrophic cardiomyopathy. Muscle biopsies from the probands showed mitochondrial proliferation and partial defects of complexes I, III, and IV of the electron-transport chain (PMID:8651277).

Symptom Information: Sort by abundance 

1
 (HPO:0000597) Ophthalmoparesis 8651277 IBIS 71 / 7739
2
 (HPO:0000408) Progressive sensorineural hearing impairment 8651277 IBIS 28 / 7739
3
 (HPO:0001347) Hyperreflexia 8651277 IBIS 363 / 7739
4
 (HPO:0001251) Ataxia 8651277 IBIS 413 / 7739
5
 (HPO:0010864) Intellectual disability, severe 8651277 IBIS 120 / 7739
6
 (HPO:0011342) Mild global developmental delay 8651277 IBIS 10 / 7739
7
 (HPO:0001639) Hypertrophic cardiomyopathy 8651277 IBIS 137 / 7739
8
 (HPO:0003326) Myalgia 8651277 IBIS 143 / 7739
9
 (HPO:0001324) Muscle weakness 8651277 IBIS 859 / 7739
10
 (HPO:0003546) Exercise intolerance 8651277 IBIS 62 / 7739
11
 (MedDRA:10058799) Mitochondrial encephalomyopathy 8651277 IBIS 5 / 7739

Associated genes:

MТ-TK;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: