Fanconi anemia complementation group D1
Findings
No curated finding names Fanconi anemia complementation group D1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011584), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intrauterine growth retardationHPOHP:0001511
- 7 of 7 reported patients
- Acute myeloid leukemiaHPOHP:0004808
- 5 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 7 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 4 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 7 reported patients
- Anal atresiaHPOHP:0002023
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BRCA2HGNC:1101
- Definitive · Ambry Genetics · Autosomal recessive · 2016
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: Fanconi anemia complementation group D1
- Also called
- FAD1FANCD1