Hyperprolinemia, type II

Preferred Label : Hyperprolinemia, type II;

Symbol : HYRPRO2;

CISMeF acronym : HPII; HYRPRO2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 1-pyrroline-5-carboxylate dehydrogenase deficiency; HPII;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the delta-1-pyrroline-5-carboxylate dehydrogenase gene (P5CDH, 606811.0001);

Laboratory abnormalities : Hyperprolinemia (10-15 times normal); Delta-1-pyrroline-5-carboxylate (P5C) levels increased in plasma; P5C levels increased in urine; Delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine; Aminoaciduria; Prolinuria; Hydroxyprolinuria; Glycinuria; Delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes;

Prefixed ID : #239510;

Détails

Origin ID

239510;

UMLS CUI

C2931835;

Automatic exact mappings (from CISMeF team)
- hyperprolinemia type 2 [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of pyrroline-5-carboxylate reductase (disorder) [SNOMED CT concept]
- Hyperprolinaemia type II [MedDRA LLT]
- Hyperprolinemia type 2 [ORDO Disease]
- Hyperprolinemia type 2 (disorder) [SNOMED CT concept]
- Hyperprolinemia type II [MedDRA LLT]
- hyperprolinemia type 2 [MeSH Supplementary Concept]
- hyperprolinemia type II [Disease (Nov.)]
DO Cross reference
- hyperprolinemia type 2 [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase, family 4, subfamily a, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hydroxyprolinuria [HPO term]
- Hyperglycinuria [HPO term]
- Hyperprolinemia [HPO term]
- Intellectual disability [HPO term]
- Prolinuria [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Hyperprolinemia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyrroline-5-carboxylate reductase (disorder) [SNOMED CT concept]
- Hyperprolinaemia type II [MedDRA LLT]
- Hyperprolinemia type 2 [ORDO Disease]
- Hyperprolinemia type 2 [MeSH concept]
- Hyperprolinemia type 2 (disorder) [SNOMED CT concept]
- Hyperprolinemia type II [MedDRA LLT]
- hyperprolinemia type 2 [MeSH Supplementary Concept]
- hyperprolinemia type II [Disease (Nov.)]
- pyrroline-5-carboxylate reductase deficiency [SNOMED Notion]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients