Spherocytosis, type 2

Preferred Label : Spherocytosis, type 2;

Symbol : SPH2;

CISMeF acronym : HS2; SPH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spherocytosis, hereditary, 2; HS2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the spectrin beta-1 gene (SPTB, 182870.0010);

Laboratory abnormalities : Hyperbilirubinemia; Reduction of beta-spectrin to protein 4.1 binding; Increased osmotic fragility; Increased reticulocyte count;

Prefixed ID : #616649;

Détails

Origin ID

616649;

UMLS CUI

C2674219;

Automatic exact mappings (from CISMeF team)
- ANK1 wt Allele [NCIt concept]
CISMeF manual mappings
- hereditary spherocytosis type 2 [DO Concept]
DO Cross reference
- hereditary spherocytosis type 2 [DO Concept]
Genes related to phenotype
- Spectrin, beta, erythrocytic [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Hyperbilirubinemia [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Jaundice [HPO term]
- Reticulocytosis [HPO term]
- Spherocytosis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hereditary spherocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hereditary spherocytosis type 2 [DO Concept]

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

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