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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
| 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:0002007 | Frontal bossing |
| HP:0002017 | Nausea and vomiting |
| HP:0002126 | Polymicrogyria |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002194 | Delayed gross motor development |
| HP:0002250 | Abnormal large intestine morphology |
| HP:0002315 | Headache |
| HP:0002652 | Skeletal dysplasia |
| HP:0002665 | Lymphoma |
| 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 |
