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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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6382 | SDC1 | syndecan 1 | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6391 | SDHC | succinate dehydrogenase complex subunit C | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TBF5 | Phosphatidylinositol-glycan biosynthesis class X protein | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0008069 | Neoplasm of the skin |
| HP:0008675 | Enlarged polycystic ovaries |
| HP:0009720 | Adenoma sebaceum |
| HP:0010614 | Fibroma |
| HP:0012032 | Lipoma |
| HP:0012062 | Bone cyst |
| HP:0012114 | Endometrial carcinoma |
| HP:0012733 | Macule |
| HP:0012740 | Papilloma |
| 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 |
