Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

General Information (adopted from Orphanet):

Synonyms, Signs: FANCD1
FAD1
Number of Symptoms 10
OrphanetNr: 319462
OMIM Id: 605724
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Inherited renal cell cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 3/7 [HPO:probinson] 15070707 IBIS 832 / 7739
2
(HPO:0009778) Short thumb 1/7 [HPO:probinson] 15070707 IBIS 50 / 7739
3
(HPO:0002023) Anal atresia 2/7 [HPO:probinson] 15070707 IBIS 135 / 7739
4
(HPO:0001508) Failure to thrive 5/7 [HPO:probinson] 15070707 IBIS 454 / 7739
5
(HPO:0001511) Intrauterine growth retardation 7/7 [HPO:probinson] 15070707 IBIS 358 / 7739
6
(HPO:0000957) Cafe-au-lait spot 4/7 [HPO:probinson] 15070707 IBIS 84 / 7739
7
(HPO:0004808) Acute myeloid leukemia 5/7 [HPO:probinson] 15070707 IBIS 14 / 7739
8
(HPO:0006727) T-cell acute lymphoblastic leukemias 1/7 [HPO:probinson] 15070707 IBIS 3 / 7739
9
(HPO:0003221) Chromosomal breakage induced by crosslinking agents 15070707 IBIS 8 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of ...
Clinical Description OMIM Based on patient outcome data as reported to the International Fanconi Anemia Registry, the cumulative incidence of bone marrow failure by age 40 years is 90%, with median time to onset of 7 years. In contrast, the cumulative ...
Molecular genetics OMIM Howlett et al. (2002) found biallelic inactivation of BRCA2 in Fanconi anemia D1 cell lines (600185.0018-600185.0023). Their results linked Fanconi anemia genes with BRCA1 (113705) and BRCA2 in a common pathway. Germline mutations of genes in this pathway ...