Cowden syndrome 5

Summary
Definition
A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.
Super Class
Cowden syndrome
External Links
Disease Ontology
DOID:0081001
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
18706 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
170911 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
The Human Phenotype Ontology
Displaying entries 31 - 40 of 78 in total
HPO ID HPO Term
HP:0002808 Kyphosis
HP:0002858 Meningioma
HP:0002861 Melanoma
HP:0003002 Breast carcinoma
HP:0004322 Short stature
HP:0004390 Hamartomatous polyposis
HP:0005374 Cellular immunodeficiency
HP:0005584 Renal cell carcinoma
HP:0005595 Generalized hyperkeratosis
HP:0006731 Follicular thyroid carcinoma
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