Phosphoglycerate dehydrogenase deficiency

Preferred Label : Phosphoglycerate dehydrogenase deficiency;

Symbol : PHGDHD;

CISMeF acronym : PHGDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phgdh deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglycerate dehydrogenase gene (PHGDH, 606879.0001);

Laboratory abnormalities : Decrease plasma serine (fasting); Decreased PHGDH activity (fibroblasts); Decreased CSF glycine; Normal-to-decreased plasma glycine (fasting); Decreased CSF serine;

Prefixed ID : #601815;

Details

Origin ID

601815;

UMLS CUI

C1866174;

Automatic exact mappings (from CISMeF team)
- PHGDH deficiency [DO Concept]
Currated CISMeF NLP mapping
- 3 phosphoglycerate dehydrogenase deficiency [Disease (Nov.)]
- 3-Phosphoglycerate dehydrogenase deficiency [ORDO Disease]
- 3-Phosphoglycerate dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3-phosphoglycerate dehydrogenase deficiency [ICD-11 More detail]
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form [ORDO Disease]
- phosphoglycerate dehydrogenase deficiency [Disease (Nov.)]
- phosphoglycerate dehydrogenase deficiency [MeSH concept]
- phosphoglycerate dehydrogenase deficiency [MeSH Supplementary Concept]
DO Cross reference
- PHGDH deficiency [DO Concept]
Genes related to phenotype
- Phosphoglycerate dehydrogenase [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral dysmyelination [HPO term]
- Decreased testicular size [HPO term]
- Developmental cataract [HPO term]
- Epilepsy [HPO term]
- Growth delay [HPO term]
- Hypertonia [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Megaloblastic anemia [HPO term]
- Nystagmus [HPO term]
- Primary microcephaly [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- phosphoglycerate dehydrogenase deficiency [MeSH Supplementary Concept]
- phosphoglycerate dehydrogenase deficiency [MeSH concept]

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