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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 |
|---|---|---|---|
| 6652 | SORD | sorbitol dehydrogenase | |
| 8807 | IL18RAP | interleukin 18 receptor accessory protein | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9993 | DGCR2 | DiGeorge syndrome critical region gene 2 | |
| 54965 | PIGX | phosphatidylinositol glycan anchor biosynthesis class X | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005306 | Capillary hemangioma |
| HP:0006824 | Cranial nerve paralysis |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0009023 | Abdominal wall muscle weakness |
| HP:0009721 | Shagreen patch |
| HP:0010516 | Thymus hyperplasia |
| HP:0010619 | Fibroadenoma of the breast |
| HP:0010784 | Uterine neoplasm |
| HP:0010807 | Open bite |
| HP:0010816 | Epidermal nevus |
| 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 |
