Fanconi anemia, complementation group A

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:alsoKnownAs gptkb:FANCA
gptkbp:associatedWith gptkb:FANCA_gene
gptkb:acute_myeloid_leukemia
gptkbp:diagnosedBy chromosome breakage test
gptkbp:discoveredIn 1992
gptkbp:function DNA repair
https://www.w3.org/2000/01/rdf-schema#label Fanconi anemia, complementation group A
gptkbp:inheritance autosomal recessive
gptkbp:locatedOnChromosome gptkb:16q24.3
gptkbp:mutationAssociatedWith loss of function
gptkbp:OMIM 227650
gptkbp:partOf gptkb:Fanconi_anemia
gptkbp:prevalence most common Fanconi anemia subtype
gptkbp:product gptkb:FANCA_protein
gptkbp:symptom increased cancer risk
bone marrow failure
congenital abnormalities
gptkbp:treatment blood transfusion
androgen therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:Fanconi_anemia_group_A_protein
gptkbp:bfsLayer 7