Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 176 | ACAN | aggrecan | |
| 414 | ARSD | arylsulfatase D | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 4680 | CEACAM6 | CEA cell adhesion molecule 6 |
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:0000036 | Abnormal penis morphology |
| HP:0000077 | Abnormality of the kidney |
| HP:0000130 | Abnormality of the uterus |
| HP:0000158 | Macroglossia |
| HP:0000218 | High palate |
| HP:0000221 | Furrowed tongue |
| HP:0000256 | Macrocephaly |
| HP:0000365 | Hearing impairment |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
| 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 |
