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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Bannayan-Riley-Ruvalcaba syndrome
Summary
- Synonym
-
- Bannayan-Zonana syndrome
- Cowden syndrome 1
- Riley-Smith syndrome
- Ruvalcaba-Myhre-Smith syndrome
- Definition
- A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
- Super Class
- Cowden syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0050657
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100761 | Visceral angiomatosis |
| HP:0200008 | Intestinal polyposis |
| HP:0001140 | Limbal dermoid |
| HP:0002652 | Skeletal dysplasia |
| HP:0000828 | Abnormality of the parathyroid gland |
| HP:0000238 | Hydrocephalus |
| HP:0001031 | Subcutaneous lipoma |
| HP:0001334 | Communicating hydrocephalus |
| HP:0000147 | Polycystic ovaries |
| HP:0001100 | Heterochromia iridis |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| 5728 | PTEN | phosphatase and tensin homolog |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
| 6391 | SDHC | succinate dehydrogenase complex subunit C |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
