Anemia, congenital, nonspherocytic hemolytic, 4

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 4;

Symbol : CNSHA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Reduced leukocyte superoxide anion production; Phosphohexose isomerase deficiency; Normal osmotic fragility; Reduced leukocyte bactericidal activity; Glucosephosphate isomerase deficiency;

Prefixed ID : #613470;

Details

Origin ID

613470;

UMLS CUI

C3150730;

Currated CISMeF NLP mapping
- Hemolytic anemia due to glucophosphate isomerase deficiency [ORDO Disease]
DO Cross reference
- congenital nonspherocytic hemolytic anemia [DO Concept]
Genes related to phenotype
- Glucose-6-phosphate isomerase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Decreased glucosephosphate isomerase level [HPO term]
- Impaired neutrophil bactericidal activity [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Muscle weakness [HPO term]
- Nonspherocytic hemolytic anemia [HPO term]
- Pigment gallstones [HPO term]
- Sensory ataxia [HPO term]
- Splenomegaly [HPO term]
- Spontaneous hemolytic crises [HPO term]
ORDO concept(s)
- Hemolytic anemia due to glucophosphate isomerase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemolytic anemia due to glucophosphate isomerase deficiency [ORDO Disease]

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