Pyruvate dehydrogenase phosphatase deficiency

Preferred Label : Pyruvate dehydrogenase phosphatase deficiency;

Symbol : PDHPD;

CISMeF acronym : PDHPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the magnesium-dependent protein phosphatase 2C gene (PPM2C, 605993.0001).;

Laboratory abnormalities : Decreased activity of the PDH phosphatase; Decreased activity of the pyruvate dehydrogenase (PDH) complex;

Prefixed ID : #608782;

Détails

Origin ID

608782;

UMLS CUI

C1837429;

Currated CISMeF NLP mapping
- Pyruvate dehydrogenase phosphatase deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase phosphatase deficiency [MeSH concept]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency (disorder) [SNOMED CT concept]
- pyruvate dehydrogenase phosphatase deficiency [MeSH Supplementary Concept]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
Genes related to phenotype
- Pyruvate dehydrogenase phosphatase, catalytic subunit 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Dysphagia [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase phosphatase deficiency [MeSH concept]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase phosphatase deficiency (disorder) [SNOMED CT concept]
- pyruvate dehydrogenase phosphatase deficiency [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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