Hereditary elliptocytosis

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf genetic disorder
hematologic disease
gptkbp:affects red blood cells
gptkbp:alsoKnownAs elliptocytosis
gptkbp:cause gptkb:anemia
gptkbp:characterizedBy elliptical red blood cells
gptkbp:diagnosedBy family history
blood smear
gptkbp:firstDescribed 1900s
https://www.w3.org/2000/01/rdf-schema#label Hereditary elliptocytosis
gptkbp:ICD-10_code D58.2
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith band 3 gene
protein 4.1 gene
spectrin gene
gptkbp:OMIM 611804
gptkbp:prevalence rare
gptkbp:symptom jaundice
splenomegaly
mild anemia
gptkbp:treatment gptkb:splenectomy
gptkbp:bfsParent gptkb:Elliptocytes
gptkbp:bfsLayer 8