Cowden syndrome 6

Summary
Definition
A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3.
Super Class
Cowden syndrome
External Links
Disease Ontology
DOID:0081002
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
207 AKT1 AKT serine/threonine kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
11651 Akt1 thymoma viral proto-oncogene 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24185 Akt1 AKT serine/threonine kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399170 akt1.S AKT serine/threonine kinase 1 S homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 57 in total
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
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