Mitochondrial dna depletion syndrome 12a (cardiomyopathic type), autosomal dominant

Preferred Label : Mitochondrial dna depletion syndrome 12a (cardiomyopathic type), autosomal dominant;

Symbol : MTDPS12A;

CISMeF acronym : MTDPS12A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 gene (SLC25A4, 103220.0009);

Laboratory abnormalities : Increased serum and CSF lactate; Organic aciduria (in some patients);

Prefixed ID : #617184;

Details

Origin ID

617184;

UMLS CUI

C4310676;

Currated CISMeF NLP mapping
- mitochondrial DNA depletion syndrome 12a [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 12a [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Generalized hypotonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hyporeflexia [HPO term]
- Inability to walk [HPO term]
- Lactic acidosis [HPO term]
- Organic aciduria [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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