Erythrocytosis, familial, 8

Preferred Label : Erythrocytosis, familial, 8;

Symbol : ECYT8;

CISMeF acronym : ECYT8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bpgm deficiency; Bisphosphoglyceromutase deficiency; Diphosphoglycerate mutase deficiency of erythrocyte; Dpgm deficiency; Bisphosphoglycerate mutase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 2,3-bisphosphoglycerate mutase gene (BPGM, 613896.0001);

Laboratory abnormalities : Diphosphoglycerate mutase deficiency;

Prefixed ID : #222800;

Details

Origin ID

222800;

UMLS CUI

C1291620;

Currated CISMeF NLP mapping
- Bisphosphoglycerate Mutase Deficiency [NCIt concept]
- Deficiency of bisphosphoglycerate mutase (disorder) [SNOMED CT concept]
- familial erythrocytosis 8 [DO Concept]
DO Cross reference
- familial erythrocytosis 8 [DO Concept]
Genes related to phenotype
- Bisphosphoglycerate mutase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Jaundice [HPO term]
- Nonspherocytic hemolytic anemia [HPO term]
- Normochromic anemia [HPO term]
- Normocytic anemia [HPO term]
- Polycythemia [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hemolytic anemia due to diphosphoglycerate mutase deficiency [ORDO Disease]
See also inter- (CISMeF)
- BPGM wt Allele [NCIt concept]
- Deficiency of phosphoglycerate mutase (disorder) [SNOMED CT concept]
- Hemolytic anemia due to diphosphoglycerate mutase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bisphosphoglycerate Mutase Deficiency [NCIt concept]
- Deficiency of bisphosphoglycerate mutase (disorder) [SNOMED CT concept]

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