Fanconi anemia type A

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:associatedWith short stature
developmental delay
microcephaly
renal anomalies
skin pigmentation changes
skeletal anomalies
gptkbp:diagnosedBy chromosomal breakage test
gptkbp:firstDescribed 1992
https://www.w3.org/2000/01/rdf-schema#label Fanconi anemia type A
gptkbp:inheritance autosomal recessive
gptkbp:locatedOnChromosome gptkb:16q24.3
gptkbp:locusTag gptkb:FANCA
gptkbp:mutationAssociatedWith gptkb:FANCA_gene
gptkbp:OMIM 227650
gptkbp:prevalence most common subtype of Fanconi anemia
gptkbp:riskFactor gptkb:acute_myeloid_leukemia
solid tumors
gptkbp:subspecies gptkb:Fanconi_anemia
gptkbp:symptom increased cancer risk
bone marrow failure
congenital abnormalities
gptkbp:treatment blood transfusion
androgen therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:Fanca
gptkb:Fanconi_anemia_complementation_group_A
gptkbp:bfsLayer 7