Details of Disease

General Information of Disease (ID: DIS9247K)

Disease Name Fanconi anemia complementation group D1
Synonyms Fad1; inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations; Fanconi anemia, complementation group D1; FANCD1; FAD1; Fanconi anemia complementation group D1
Definition
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DIS9247K: Fanconi anemia complementation group D1
Disease Identifiers
MONDO ID
MONDO_0011584
MESH ID
C563980
UMLS CUI
C1838457
OMIM ID
605724
MedGen ID
325420
Orphanet ID
319462

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BRCA2 TTUARD6 Definitive Autosomal recessive [1]
BRCA2 TTUARD6 Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BRCA2 OTF1XSV1 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.J Med Genet. 2018 Jun;55(6):372-377. doi: 10.1136/jmedgenet-2017-105188. Epub 2018 Apr 16.