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BAP1-related tumor predisposition syndrome
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Bohring-Opitz syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Methylmalonic acidemia with homocystinuria, type cblX
Primary peritoneal carcinoma
X-linked non-syndromic intellectual deficit
Acute promyelocytic leukemia
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Synonym(s):
- Tumor susceptibility linked to germline BAP1 mutations
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BAP1 Q92560603089
No signs/symptoms info available.