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
External Links
Disease Ontology
DOID:13482
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
207 AKT1 AKT serine/threonine kinase 1
2719 GPC3 glypican 3
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5728 PTEN phosphatase and tensin homolog
6401 SELE selectin E
6403 SELP selectin P
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 11 - 20 of 109 in total
HPO ID HPO Term
HP:0000324 Facial asymmetry
HP:0000369 Low-set ears
HP:0000400 Macrotia
HP:0000463 Anteverted nares
HP:0000464 Abnormality of the neck
HP:0000486 Strabismus
HP:0000494 Downslanted palpebral fissures
HP:0000501 Glaucoma
HP:0000508 Ptosis
HP:0000518 Cataract
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: August 19, 2024