Anemia, congenital, nonspherocytic hemolytic, 5

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 5;

Symbol : CNSHA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemolytic anemia, nonspherocytic, due to hexokinase deficiency;

Description : Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hexokinase 1 gene (HK1, 142600.0001);

Laboratory abnormalities : Hyperbilirubinemia; Decreased hexokinase activity in red blood cells;

Prefixed ID : #235700;

Details

Origin ID

235700;

UMLS CUI

C3150343;

Currated CISMeF NLP mapping
- Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) [SNOMED CT concept]
- Non-spherocytic hemolytic anemia due to hexokinase deficiency [ORDO Disease]
- Nonspherocytic haemolytic anaemia due to hexokinase deficiency [ICD-11 More detail]
- hnsha due to hexokinase deficiency [SNOMED Notion]
Genes related to phenotype
- Hexokinase 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Congenital onset [HPO term]
- Hyperbilirubinemia [HPO term]
- Jaundice [HPO term]
- Nonspherocytic hemolytic anemia [HPO term]
- Normochromic anemia [HPO term]
- Normocytic anemia [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Non-spherocytic hemolytic anemia due to hexokinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Non-spherocytic hemolytic anemia due to hexokinase deficiency [ORDO Disease]

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