Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Preferred Label : Phosphoenolpyruvate carboxykinase deficiency, mitochondrial;

Symbol : PCKDM;

CISMeF acronym : PCKDM;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pepck2 deficiency; Pck2 deficiency;

Inheritance : Autosomal recessive; also a cytosolic form (261680);

Prefixed ID : %261650;

Details

Origin ID

261650;

UMLS CUI

C1849821;

Broader ORDO disease(s)
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Phosphoenolpyruvate carboxykinase 2 deficiency [ICD-11 More detail]
- Phosphoenolpyruvate carboxykinase 2 deficiency [MeSH concept]
- Phosphoenolpyruvate carboxykinase 2 deficiency [ORDO Disease]
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH concept]
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hepatic failure [HPO term]
- Hepatic steatosis [HPO term]
- Hypoglycemia [HPO term]
- Impaired gluconeogenesis [HPO term]
- Renal steatosis [HPO term]
ORDO concept(s)
- Phosphoenolpyruvate carboxykinase 2 deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH Supplementary Concept]
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH concept]

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