Proteus syndrome

Summary
Synonym
  • Wiedemann's syndrome
Definition
A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
Super Class
PTEN hamartoma tumor syndrome
Disease Ontology
DOID:13482
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
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 101 - 109 of 109 in total
HPO ID HPO Term
HP:0100555 Asymmetric growth
HP:0100559 Lower limb asymmetry
HP:0100560 Upper limb asymmetry
HP:0100615 Ovarian neoplasm
HP:0100730 Bronchogenic cyst
HP:0100761 Visceral angiomatosis
HP:0100764 Lymphangioma
HP:0100774 Hyperostosis
HP:0100777 Exostoses
Displaying 1 entry
Gene ID Gene Symbol Description
5728 PTEN phosphatase and tensin homolog

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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: December 9, 2024