Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive

Preferred Label : Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive;

Symbol : MTDPS12B;

CISMeF acronym : MTDPS12B;

Type : Phenotype, molecular basis known;

Description : Mitochondrial DNA depletion syndrome-12 is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 gene (SLC25A4, 103220.0005);

Prefixed ID : #615418;

Details

Origin ID

615418;

UMLS CUI

C3809443;

Automatic exact mappings (from CISMeF team)
- Mitochondrial DNA Depletion Syndrome 12 [NCIt concept]
- SLC25A4 wt Allele [NCIt concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 12b [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Dyspnea [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Easy fatigability [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Fatigue [HPO term]
- Headache [HPO term]
- Heart murmur [HPO term]
- Hyperalaninemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability, mild [HPO term]
- Left ventricular hypertrophy [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Nausea and vomiting [HPO term]
- Obesity [HPO term]
- Ragged-red muscle fibers [HPO term]
- Severe lactic acidosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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