MCID: PRT063
MIFTS: 17

Proteus-Like Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Proteus-Like Syndrome

About this section

Aliases & Descriptions for Proteus-Like Syndrome:

Name: Proteus-Like Syndrome 46 23 25
 
Cohen-Hayden Syndrome 46

Classifications:



Summaries for Proteus-Like Syndrome

About this section
NIH Rare Diseases:46 Proteus-like syndrome describes people who do not meet the diagnostic criteria for proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. approximately 50% of people with proteus-like syndrome are found to have changes (mutations) in the pten gene. in these cases, the inheritance is autosomal dominant. treatment is based on the signs and symptoms present in each person. last updated: 10/5/2015

MalaCards based summary: Proteus-Like Syndrome, also known as cohen-hayden syndrome, is related to proteus like syndrome mental retardation eye defect and cowden syndrome 1. An important gene associated with Proteus-Like Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include skin and bone.

Wikipedia:69 Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain etiology. more...

Related Diseases for Proteus-Like Syndrome

About this section

Diseases in the Proteus-Like Syndrome family:

Pten-Related Proteus Syndrome

Diseases related to Proteus-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1proteus like syndrome mental retardation eye defect12.2
2cowden syndrome 111.2
3proteus syndrome, somatic10.1
4pten hamartoma tumor syndrome10.1
5arteriovenous malformation9.9
6lipomatosis9.9
7hemihypertrophy9.9

Graphical network of diseases related to Proteus-Like Syndrome:



Diseases related to proteus-like syndrome

Symptoms for Proteus-Like Syndrome

About this section

Drugs & Therapeutics for Proteus-Like Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Proteus-Like Syndrome

Genetic Tests for Proteus-Like Syndrome

About this section

Genetic tests related to Proteus-Like Syndrome:

id Genetic test Affiliating Genes
1 Proteus-Like Syndrome25 23

Anatomical Context for Proteus-Like Syndrome

About this section

MalaCards organs/tissues related to Proteus-Like Syndrome:

34
Skin, Bone

Animal Models for Proteus-Like Syndrome or affiliated genes

About this section

Publications for Proteus-Like Syndrome

About this section

Articles related to Proteus-Like Syndrome:

idTitleAuthorsYear
1
980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome. (19627404)
2010
2
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. (11476841)
2001
3
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (10749983)
2000

Variations for Proteus-Like Syndrome

About this section

Clinvar genetic disease variations for Proteus-Like Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
2PTENNM_000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889

Expression for genes affiliated with Proteus-Like Syndrome

About this section
Search GEO for disease gene expression data for Proteus-Like Syndrome.

Pathways for genes affiliated with Proteus-Like Syndrome

About this section

GO Terms for genes affiliated with Proteus-Like Syndrome

About this section

Sources for Proteus-Like Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet