|
gptkbp:instanceOf
|
genetic disorder
rare disease
|
|
gptkbp:affects
|
bone marrow
|
|
gptkbp:associatedWith
|
gptkb:FANCA
gptkb:FANCB
gptkb:FANCC
gptkb:FANCD2
gptkb:FANCE
gptkb:FANCF
gptkb:FANCG
gptkb:FANCI
gptkb:FANCJ
gptkb:FANCL
gptkb:FANCM
gptkb:FANCN
gptkb:FANCP
gptkb:FANCR
gptkb:FANCS
gptkb:acute_myeloid_leukemia
FANCT
congenital malformations
|
|
gptkbp:causedBy
|
mutations in DNA repair genes
|
|
gptkbp:diagnosedBy
|
chromosome breakage test
|
|
gptkbp:firstDescribed
|
1927
|
|
gptkbp:frequency
|
1 in 100,000 to 250,000 births
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Fanconi anemia
|
|
gptkbp:ICD-10_code
|
D61.0
|
|
gptkbp:inheritance
|
X-linked recessive
autosomal recessive
|
|
gptkbp:namedAfter
|
gptkb:Guido_Fanconi
|
|
gptkbp:notableFeature
|
short stature
café-au-lait spots
chromosomal instability
hypogonadism
microcephaly
renal anomalies
skin pigmentation changes
thumb abnormalities
|
|
gptkbp:OMIM
|
227650
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:riskFactor
|
family history
consanguinity
|
|
gptkbp:studiedBy
|
model for DNA repair studies
|
|
gptkbp:supportGroup
|
gptkb:Fanconi_Anemia_Research_Fund
|
|
gptkbp:symptom
|
increased cancer risk
bone marrow failure
developmental abnormalities
|
|
gptkbp:treatment
|
blood transfusions
bone marrow transplant
androgen therapy
|
|
gptkbp:bfsParent
|
gptkb:Ashkenazi_Jews
|
|
gptkbp:bfsLayer
|
4
|