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Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
1 OMIM reference -
1 associated gene
71 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Fanconi anemia
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Li-Fraumeni syndrome
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Gliosarcoma
Precursor B-cell acute lymphoblastic leukemia
Hereditary nonpolyposis colon cancer
Familial congenital mirror movements
Primary peritoneal carcinoma
Split hand-split foot malformation
Adrenocortical carcinoma
Essential thrombocythemia
Papilloma of choroid plexus
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Osteosarcoma
Aneurysm - osteoarthritis syndrome
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Familial thoracic aortic aneurysm and aortic dissection
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Mosaic variegated aneuploidy syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Autosomal recessive primary microcephaly
Combined cervical dystonia
Mantle cell lymphoma
Premature chromosome condensation with microcephaly and intellectual deficit
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Xeroderma pigmentosum variant
Male infertility with normal virilization due to meiosis defect
Chronic myeloid leukemia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Seckel syndrome
Osteogenesis imperfecta type 3
Cornelia de Lange syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BRCA2 P51587600185
No signs/symptoms info available.