Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Preferred Label : Phosphoenolpyruvate carboxykinase deficiency, cytosolic;

Symbol : PCKDC;

CISMeF acronym : PCKDC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pepck deficiency, cytosolic; Pck1 deficiency, cytosolic;

Inheritance : Autosomal recessive;

Prefixed ID : #261680;

Details

Origin ID

261680;

UMLS CUI

C5574905;

Automatic exact mappings (from CISMeF team)
- Phosphoenolpyruvate carboxykinase 1 deficiency [ORDO Disease]
- phosphoenolpyruvate carboxykinase deficiency [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
Genes related to phenotype
- Phosphoenolpyruvate carboxykinase 1, soluble [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cyanosis [HPO term]
- EEG abnormality [HPO term]
- Fasting hypoglycemia [HPO term]
- Global developmental delay [HPO term]
- Hepatic encephalopathy [HPO term]
- Hepatic failure [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypoglycemia [HPO term]
- Impaired gluconeogenesis [HPO term]
- Infantile onset [HPO term]
- Ketonuria [HPO term]
- Lactic acidosis [HPO term]
- Low plasma citrulline [HPO term]
- Optic atrophy [HPO term]
- Renal steatosis [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Phosphoenolpyruvate carboxykinase 1 deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoenolpyruvate Carboxykinase Deficiency [NCIt concept]
- Phosphoenolpyruvate carboxykinase deficiency [ORDO Disease]
- Phosphoenolpyruvate carboxykinase deficiency [MeSH concept]
- Phosphoenolpyruvate carboxykinase deficiency [ICD-11 More detail]
- Phosphoenolpyruvate carboxykinase deficiency (disorder) [SNOMED CT concept]
- phosphoenolpyruvate carboxykinase (gtp) deficiency [SNOMED Notion]
- phosphoenolpyruvate carboxykinase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Phosphoenolpyruvate Carboxykinase Deficiency [NCIt concept]

Keyword's position in hierarchy(ies) :

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