Fanconi anemia, complementation group C

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:associatedWith gptkb:FANCC
gptkbp:diagnosedBy chromosome breakage test
gptkbp:firstDescribed 1992
gptkbp:hasPhenotype short stature
skeletal anomalies
skin pigmentation abnormalities
https://www.w3.org/2000/01/rdf-schema#label Fanconi anemia, complementation group C
gptkbp:ICD-10_code D61.0
gptkbp:inheritance autosomal recessive
gptkbp:locatedOnChromosome 9q22.3
gptkbp:mutationAssociatedWith gptkb:FANCC_gene
gptkbp:OMIM 227645
gptkbp:partOf gptkb:Fanconi_anemia
gptkbp:prevalence rare
gptkbp:relatedTo chromosomal instability
DNA repair defect
gptkbp:symptom increased cancer risk
bone marrow failure
congenital abnormalities
gptkbp:treatment blood transfusion
androgen therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:FANCC
gptkbp:bfsLayer 6