Anemia, congenital, nonspherocytic hemolytic, 10

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 10;

Symbol : CNSHA10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemolytic anemia due to glutathione reductase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutathione reductase gene (GSR, 138300.0001);

Laboratory abnormalities : Hyperbilirubinemia; Impaired activity of glutathione reductase;

Prefixed ID : #618660;

Details

Origin ID

618660;

UMLS CUI

C5231513;

Currated CISMeF NLP mapping
- Hemolytic anemia due to glutathione reductase deficiency [ORDO Disease]
Genes related to phenotype
- Glutathione reductase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Fava bean-induced hemolytic anemia [HPO term]
- Hyperbilirubinemia [HPO term]
ORDO concept(s)
- Hemolytic anemia due to glutathione reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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