Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:fandom
|
| gptkbp:bfsLayer |
6
|
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_type_D
|
| gptkbp:affects |
both genders
|
| gptkbp:associated_with |
increased risk of cancer
|
| gptkbp:caused_by |
mutation in the FANCA gene
|
| gptkbp:clinical_trial |
hearing loss
ongoing studies skin changes dental abnormalities eye abnormalities delayed puberty increased infections pancytopenia cognitive development normal increased pigmentation possible learning disabilities |
| gptkbp:complications |
gptkb:healthcare_organization
solid tumors organ dysfunction |
| gptkbp:current_use |
other types of Fanconi anemia
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:discovered_by |
Fanconi
|
| gptkbp:first_described_by |
in the 20th century
|
| gptkbp:genetic_diversity |
recommended for families
carrier testing available FANCA gene analysis prenatal testing possible |
| gptkbp:habitat |
chromosome 16
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type E
|
| gptkbp:is_characterized_by |
bone marrow failure
|
| gptkbp:is_involved_in |
available for patients
|
| gptkbp:is_popular_in |
rare disorder
|
| gptkbp:premiered_on |
childhood
|
| gptkbp:public_awareness |
September
|
| gptkbp:registration |
patient registries exist
|
| gptkbp:research_focus |
gptkb:physicist
understanding pathophysiology new treatment options |
| gptkbp:risk_factor |
radiation exposure
family history exposure to certain chemicals |
| gptkbp:screenings |
early detection recommended
|
| gptkbp:social_responsibility |
genetic testing
clinical evaluation laboratory tests family history assessment |
| gptkbp:symptoms |
nutritional support
physical therapy psychosocial support short stature skeletal abnormalities hypopigmentation |
| gptkbp:treatment |
supportive care
androgens bone marrow transplant |