Mitochondrial Pyruvate Carrier Deficiency

Preferred Label : Mitochondrial Pyruvate Carrier Deficiency;

NCIt synonyms : MPYCD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the MPC1 gene, encoding mitochondrial pyruvate carrier 1. it is characterized by lactic acidosis with a normal lactate/pyruvate ratio, and global developmentally.;

Details

Origin ID

C202117;

UMLS CUI

C3553607;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial pyruvate carrier deficiency [OMIM Phenotype]
- Mitochondrial pyruvate carrier deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MPC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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