Cytoscape Web
Click node...


Hereditary breast and ovarian cancer syndrome
4 OMIM references -
13 associated genes
354 connected diseases
No signs/symptoms info
Disease Type of connection
Fanconi anemia
Familial prostate cancer
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Li-Fraumeni syndrome
Primary peritoneal carcinoma
Familial congenital mirror movements
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Nijmegen breakage syndrome-like disorder
Nijmegen breakage syndrome
Ataxia-telangiectasia-like disorder
Osteosarcoma
Cowden syndrome
Proteus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Hereditary nonpolyposis colon cancer
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Muir-Torre syndrome
B-cell chronic lymphocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Seckel syndrome
Giant cell glioblastoma
Gliosarcoma
Mantle cell lymphoma
Essential thrombocythemia
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Adrenocortical carcinoma
Papilloma of choroid plexus
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Bloom syndrome
Jawad syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Severe combined immunodeficiency due to DNA-PKcs deficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Acute promyelocytic leukemia
Williams syndrome
Omenn syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Chronic myeloid leukemia
Melanoma of soft part
Autosomal dominant nonsyndromic intellectual deficit
Estrogen resistance syndrome
Familial melanoma
Split hand-split foot malformation
Autosomal recessive primary microcephaly
Familial isolated dilated cardiomyopathy
Premature chromosome condensation with microcephaly and intellectual deficit
Retinitis pigmentosa
Xeroderma pigmentosum variant
Young adult-onset Parkinsonism
Distal 22q11.2 microdeletion syndrome
Osteogenesis imperfecta type 3
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Left ventricular noncompaction
X-linked distal arthrogryposis multiplex congenita
COFS syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Ewing sarcoma
Extraskeletal Ewing sarcoma
Cornelia de Lange syndrome
Anaplastic ependymoma
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Burkitt lymphoma
BAP1-related tumor predisposition syndrome
Chronic intestinal pseudoobstruction
Chronic mucocutaneous candidiasis
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Susceptibility to viral and mycobacterial infections
Terminal osseous dysplasia - pigmentary defects
Angelman syndrome
Idiopathic hypereosinophilic syndrome
Werner syndrome
Coffin-Siris syndrome
Familial rhabdoid tumor
X-linked lymphoproliferative disease
MMEP syndrome
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
Cerebellar ataxia - hypogonadism
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Baraitser-Winter syndrome
Caffey disease
Cree leukoencephalopathy
Dermatofibrosarcoma protuberans
Distal monosomy 3p
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Ovarioleukodystrophy
Smith-Magenis syndrome
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
UV-sensitive 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 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
Aicardi-Goutières syndrome
Chilblain lupus
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Desmoplastic small round cell tumor
Extraskeletal myxoid chondrosarcoma
Multiple myeloma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Autosomal agammaglobulinemia
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Monomelic amyotrophy
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
Spinocerebellar ataxia type 12
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Autosomal dominant spastic paraplegia type 13
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Peripheral primitive neuroectodermal tumor
Weaver syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
Familial dysautonomia
Intellectual deficit - sparse hair - brachydactyly
17q11 microdeletion syndrome
Autosomal recessive nonsyndromic intellectual deficit
Cone rod dystrophy
Congenital analbuminemia
Hypotonia with lactic acidemia and hyperammonemia
Leber congenital amaurosis
Meckel syndrome
Neuroblastoma
Peutz-Jeghers syndrome
Chuvash erythrocytosis
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
Von Hippel-Lindau disease
46,XX gonadal dysgenesis
ADULT syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Ankyloblepharon - ectodermal defects - cleft lip / palate
Atelosteogenesis type I
Atelosteogenesis type III
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Larsen syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal thrombocytopenia with normal platelets
Bladder exstrophy
Blepharophimosis-intellectual deficit syndrome, MKB type
Boomerang dysplasia
Branchio-oculo-facial syndrome
Cap myopathy
Childhood-onset nemaline myopathy
Congenital contractural arachnodactyly
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy with cerebellar involvement
Congenital stromal corneal dystrophy
Dermatopathia pigmentosa reticularis
Developmental malformations - deafness - dystonia
Distal 16p11.2 microdeletion syndrome
EEC syndrome
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
FG syndrome type 1
Facioscapulohumeral dystrophy
Familial gastric cancer
Frontotemporal dementia with motor neuron disease
Fucosidosis
Gastric linitis plastica
Gastrointestinal stromal tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Gray platelet syndrome
Gräsbeck-Imerslund disease
Hb Bart's hydrops fetalis
Hemoglobin H disease
Huntington disease
Hyper-IgM syndrome type 2
Hypocalcemic vitamin D-resistant rickets
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoparathyroidism - deafness - renal disease
Infantile Refsum disease
Inflammatory myofibroblastic tumor
Intellectual deficit, X-linked, Nascimento type
Intellectual deficit, X-linked, Turner type
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intermediate nemaline myopathy
Isolated adermatoglyphia
Juvenile Huntington disease
Juvenile myelomonocytic leukemia
Lethal acantholytic epidermolysis bullosa
Limb-mammary syndrome
Localized epidermolysis bullosa simplex
Male infertility associated with large-headed multiflagellar polyploid spermatozoa
Microcephalic primordial dwarfism, Alazami type
Muscle-eye-brain disease
Myeloid neoplasm associated with PDGFRA rearrangement
Naegeli-Franceschetti-Jadassohn syndrome
Naxos disease
Neonatal adrenoleukodystrophy
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Pancytopenia due to IKZF1 mutations
Papillary or follicular thyroid carcinoma
Persistent Müllerian duct syndrome
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Proximal 16p11.2 microdeletion syndrome
Pulverulent cataract
Renal coloboma syndrome
Rhizomelic chondrodysplasia punctata type 2
SERKAL syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Short rib-polydactyly syndrome, Majewski type
Spinocerebellar ataxia type 11
Spondylocarpotarsal synostosis
Spondylometaphyseal dysplasia - cone-rod dystrophy
Usher syndrome type 2
Walker-Warburg syndrome
Wolf-Hirschhorn syndrome
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Zellweger syndrome
Autosomal dominant hyper-IgE syndrome
Familial capillary hemangioma
GAPO syndrome
Spinocerebellar ataxia type 36
Atypical teratoid tumor
Familial multiple meningioma
Neurofibromatosis type 3
Cerebroretinal vasculopathy
Familial isolated congenital asplenia
Generalized juvenile polyposis / juvenile polyposis coli
HERNS syndrome
Hereditary hemorrhagic telangiectasia
Hereditary vascular retinopathy
Myhre syndrome
Trichothiodystrophy
Xeroderma pigmentosum complementation group D
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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references

No signs/symptoms info available.