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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000098 | Tall stature |
| HP:0000189 | Narrow palate |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000400 | Macrotia |
| HP:0000445 | Wide nose |
| HP:0000463 | Anteverted nares |
| HP:0000587 | Abnormal optic nerve morphology |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 5728 | PTEN | phosphatase and tensin homolog |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
| 6391 | SDHC | succinate dehydrogenase complex subunit C |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
