|
MCID: PRT008
|
Proteus Syndrome malady |
|
Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.30
MalaCards: Proteus Syndrome, also known as proteus syndrome (disorder), is related to cowden disease and tuberous sclerosis. An important gene associated with Proteus Syndrome is AKT1 (v-akt murine thymoma viral oncogene homolog 1), and among its related pathways are Development_EGFR signaling via PIP3 and Regulation of Signaling by NODAL. The compounds ptdins(3)p and phosphatidylinositol 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are respiratory system and embryogenesis. Genetics Home Reference: Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.17 Wikipedia: Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf...44 more... GeneReviews summary for proteus |
|
Sources: 2CDC, 43UMLS, 6Disease Ontology, 15GeneReviews, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 16GeneTests, 40SNOMED-CT, 27NCIt, 24MeSH, 33OMIM See all sources |
|
|
|
Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for proteus syndrome Drug clinical trials:Search ClinicalTrials for proteus syndrome Search NIH Clinical Center for proteus syndrome Search CenterWatch for proteus syndrome |
|
Sources: 16GeneTests See all sources |
|
Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to proteus syndrome:22Skin
|
|
Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to proteus syndrome:25
|
|
Sources: 35PubMed See all sources |
Articles related to proteus syndrome:
|
|
Sources: 1BioGPS See all sources |
  |
|
Sources: 41Thomson Reuters, 38Reactome, 10EMD Millipore See all sources |
Pathways related to proteus syndrome according to GeneDecks:
|
|
Sources: 32Novoseek , 42Tocris Bioscience, 9DrugBank, 34PharmGKB, 18HMDB See all sources |
Compounds related to proteus syndrome according to GeneDecks:(show all 12)
|
|
Sources: 12Gene Ontology See all sources |
Biological processes related to proteus syndrome according to GeneDecks:
Molecular functions related to proteus syndrome according to GeneDecks:
|