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Hereditary site-specific ovarian cancer syndrome
2 associated genes
247 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Primary peritoneal carcinoma
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Hereditary nonpolyposis colon cancer
Li-Fraumeni syndrome
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Seckel syndrome
Precursor T-cell acute lymphoblastic leukemia
Muir-Torre syndrome
Essential thrombocythemia
Mantle cell lymphoma
Giant cell glioblastoma
Gliosarcoma
Familial melanoma
Split hand-split foot malformation
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Williams syndrome
Familial congenital mirror movements
Adrenocortical carcinoma
Papilloma of choroid plexus
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Osteosarcoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Melanoma of soft part
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial isolated dilated cardiomyopathy
Chronic intestinal pseudoobstruction
Chronic myeloid leukemia
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Coffin-Siris syndrome
Familial rhabdoid tumor
Retinitis pigmentosa
Xeroderma pigmentosum variant
Autosomal dominant nonsyndromic intellectual deficit
Osteogenesis imperfecta type 3
Cornelia de Lange syndrome
Ataxia-telangiectasia-like disorder
Burkitt lymphoma
Cowden syndrome
Estrogen resistance syndrome
Familial retinoblastoma
Jawad syndrome
Monosomy 13q14
Nijmegen breakage syndrome-like disorder
Proteus syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Unilateral retinoblastoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Adult-onset distal myopathy due to VCP mutation
Anaplastic ependymoma
BAP1-related tumor predisposition syndrome
Behavioral variant of frontotemporal dementia
Chronic mucocutaneous candidiasis
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Multiple myeloma
Partial androgen insensitivity syndrome
Progressive non-fluent aphasia
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Semantic dementia
Spastic paraplegia - Paget disease of bone
Susceptibility to viral and mycobacterial infections
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
X-linked distal arthrogryposis multiplex congenita
Nijmegen breakage syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Autosomal agammaglobulinemia
Mosaic variegated aneuploidy syndrome
SHORT syndrome
Atypical Gaucher disease due to saposin C deficiency
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Angelman syndrome
Autosomal dominant spastic paraplegia type 13
Autosomal recessive primary microcephaly
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Isolated delta-storage pool disease
Left ventricular noncompaction
Paris-Trousseau thrombocytopenia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Peripheral primitive neuroectodermal tumor
Premature chromosome condensation with microcephaly and intellectual deficit
Weaver syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
Intellectual deficit - sparse hair - brachydactyly
17q11 microdeletion syndrome
Autosomal recessive nonsyndromic intellectual deficit
Cone rod dystrophy
Leber congenital amaurosis
MMEP syndrome
Meckel syndrome
Neuroblastoma
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
X-linked lymphoproliferative disease
Omenn syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
COFS syndrome
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Developmental delay with autism spectrum disorder and gait instability
Male infertility with normal virilization due to meiosis defect
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
UV-sensitive syndrome
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal thrombocytopenia with normal platelets
Baraitser-Winter syndrome
Bladder exstrophy
Branchio-oculo-facial syndrome
Caffey disease
Cap myopathy
Cerebellar ataxia - hypogonadism
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy with cerebellar involvement
Congenital stromal corneal dystrophy
Dermatofibrosarcoma protuberans
Distal 16p11.2 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal monosomy 3p
EEC syndrome
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Frontotemporal dementia with motor neuron disease
Gray platelet syndrome
Gräsbeck-Imerslund disease
High bone mass osteogenesis imperfecta
Hypocalcemic vitamin D-resistant rickets
Hypoparathyroidism - deafness - renal disease
Infantile Refsum disease
Inflammatory myofibroblastic tumor
Intellectual deficit, X-linked, Turner type
Intermediate nemaline myopathy
Leber hereditary optic neuropathy
Lethal acantholytic epidermolysis bullosa
Limb-mammary syndrome
MELAS syndrome
Male infertility associated with large-headed multiflagellar polyploid spermatozoa
Maternally-inherited Leigh syndrome
Muscle-eye-brain disease
Naxos disease
Neonatal adrenoleukodystrophy
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Papillary or follicular thyroid carcinoma
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Proximal 16p11.2 microdeletion syndrome
Renal coloboma syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Smith-Magenis syndrome
Usher syndrome type 2
Walker-Warburg syndrome
Zellweger syndrome
Autosomal dominant hyper-IgE syndrome
Familial capillary hemangioma
GAPO syndrome
Atypical teratoid tumor
Bloom syndrome
Familial multiple meningioma
Neurofibromatosis type 3
Familial isolated congenital asplenia
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Young adult-onset Parkinsonism
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 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
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
BRCA1 P38398113705
BRCA2 P51587600185
No signs/symptoms info available.