Fanconi anemia, complementation group D2
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:FANCD2
|
| gptkbp:characterizedBy |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:diagnosedBy |
chromosome breakage test
molecular genetic testing |
| gptkbp:firstDescribed |
2002
|
| gptkbp:hasPhenotype |
short stature
developmental delay skeletal anomalies increased risk of acute myeloid leukemia increased risk of solid tumors progressive pancytopenia skin pigmentation abnormalities |
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia, complementation group D2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
3p25.3
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCD2_gene
|
| gptkbp:OMIM |
227646
|
| gptkbp:partOf |
gptkb:Fanconi_anemia
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
chromosomal instability
Fanconi anemia pathway DNA repair defect |
| gptkbp:treatment |
supportive care
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:FANCD2
|
| gptkbp:bfsLayer |
6
|