Anemia, congenital, nonspherocytic hemolytic, 2

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 2;

Symbol : CNSHA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pk deficiency; Pyruvate kinase deficiency of erythrocyte; Pyruvate kinase deficiency of red cells;

Description : Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the red cell pyruvate kinase gene (PKRL, 609712.0001).;

Laboratory abnormalities : Decreased hemoglobin; Increased reticulocytes; Increased unconjugated bilirubin; Decreased red cell pyruvate kinase activity;

Prefixed ID : #266200;

Details

Origin ID

266200;

UMLS CUI

C0340968;

Currated CISMeF NLP mapping
- Deficiency of pyruvate kinase (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to red cell pyruvate kinase deficiency [ICD-11 More detail]
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
- Pyruvate Kinase Deficiency [NCIt concept]
- Pyruvate kinase deficiency [PASCAL descriptor]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [DO Concept]
- pyruvate kinase deficiency of red cells [MeSH concept]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
DO Cross reference
- pyruvate kinase deficiency of red cells [DO Concept]
Genes related to phenotype
- Pyruvate kinase, liver and red blood cell [OMIM gene]
HPO term(s)
- Abnormality of the amniotic fluid [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Chronic hemolytic anemia [HPO term]
- Decreased hemoglobin [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Intrauterine growth retardation [HPO term]
- Jaundice [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
ORDO concept(s)
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyruvate kinase (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to red cell pyruvate kinase deficiency [ICD-11 More detail]
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
- Pyruvate Kinase Deficiency [NCIt concept]
- Pyruvate kinase deficiency [PASCAL descriptor]
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
- pyruvate kinase deficiency of red cells [MeSH concept]
Validated automatic mappings to NTBT
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]

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