Gastrointestinal ulceration, recurrent, with dysfunctional platelets

Preferred Label : Gastrointestinal ulceration, recurrent, with dysfunctional platelets;

Symbol : GURDP;

CISMeF acronym : GURDP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phospholipase a2, group iva, deficiency of;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2, group IVA gene (PLA2G4A, 600522.0001);

Laboratory abnormalities : Decreased 12-HETE; Decreased thromboxane-B2 (TxB2); Decreased serum eicosanoids;

Prefixed ID : #618372;

Détails

Origin ID

618372;

UMLS CUI

C5567651;

Currated CISMeF NLP mapping
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder [ORDO Disease]
Genes related to phenotype
- Phospholipase a2, group iva [OMIM gene]
HPO term(s)
- Abnormal circulating eicosanoid concentration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating 12-HETE [HPO term]
- Decreased serum thromboxane B2 [HPO term]
- Duodenal ulcer [HPO term]
- Esophageal ulceration [HPO term]
- Gastric ulcer [HPO term]
- Impaired platelet aggregation [HPO term]
- Iron deficiency anemia [HPO term]
ORDO concept(s)
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder [ORDO Disease]
See also inter- (CISMeF)
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) [SNOMED CT concept]

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

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