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
Displaying entries 21 - 26 of 26 in total
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
The Human Phenotype Ontology
Displaying entries 41 - 50 of 158 in total
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
Displaying all 5 entries
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024