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Disease Hamartoma Syndrome, Multiple

Name Hamartoma Syndrome, Multiple
Synonyms Bannayan Riley Ruvalcaba Syndrome | Bannayan-Riley-Ruvalcaba Syndrome | Bannayan-Ruvalcaba-Riley Syndrome | Bannayan Zonana Syndrome | Bannayan-Zonana Syndrome | BRRS | BZS | CD | CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED | CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED | Cerebellum Dysplastic Gangliocytoma | Cerebellum Dysplastic Gangliocytomas | Cowden Disease | Cowden's Disease | Cowdens Disease | Cowden's Syndrome | Cowdens Syndrome | Cowden Syndrome | COWDEN SYNDROME 1 | CPD6, INCLUDED | CS | CWS1 | Dysplastic Gangliocytoma of Cerebellum | Dysplastic Gangliocytoma of the Cerebellum | Hamartoma Syndromes, Multiple | LDD, INCLUDED | Lhermitte Duclos Disease | Lhermitte-Duclos Disease | LHERMITTE-DUCLOS DISEASE, INCLUDED | Macrocephaly, Multiple Lipomas, and Hemangiomata | Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas | Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata | Multiple Hamartoma Syndrome | MULTIPLE HAMARTOMA SYNDROME;MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED | Multiple Hamartoma Syndromes | Myhre Riley Smith Syndrome | Myhre-Riley-Smith Syndrome | PROTEUS-LIKE SYNDROME, INCLUDED | PTEN Hamartoma Tumor Syndrome | Riley Smith Syndrome | Riley-Smith Syndrome | RMSS | Ruvalcaba Myhre Smith Syndrome | Ruvalcaba-Myhre-Smith Syndrome | Ruvalcaba-Myhre Syndrome
Definition A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Categories Cancer | Genetic disease (inborn)
MeSH® ID D006223
OMIM® IDs 153480 | 158350
External Links

Top ↑ Ancestors

1. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Hamartoma Has associated chemicals Has associated genes Hamartoma Syndrome, Multiple Has associated chemicals Has associated genes
2. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplasms, Multiple Primary Has associated chemicals Has associated genes Hamartoma Syndrome, Multiple Has associated chemicals Has associated genes
3. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Hamartoma Syndrome, Multiple Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Hamartoma Syndrome, Multiple Has associated chemicals Has associated genes

Top ↑ Descendants

Hamartoma Syndrome, Multiple Has associated chemicals Has associated genes
  Basal cell carcinoma, multiple
  Cerebellar Granule Cell Hypertrophy and Megalencephaly
  Cerebelloparenchymal Disorder VI
  Cowden-Like Syndrome Has associated chemicals Has associated genes
  Graham Boyle Troxell syndrome
  Heart defect, tongue hamartoma and polysyndactyly
View node Proteus Syndrome Has associated chemicals Has associated genes
  Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
  Sacral hemangiomas multiple congenital abnormalities