MCID: PRT063
MIFTS: 22

Proteus-Like Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Proteus-Like Syndrome

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Aliases & Descriptions for Proteus-Like Syndrome:

Name: Proteus-Like Syndrome 48 24 27
 
Cohen-Hayden Syndrome 48

Classifications:



Summaries for Proteus-Like Syndrome

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NIH Rare Diseases:48 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, and has symptoms including polycystic ovaries, macrocephaly and dolichocephaly. An important gene associated with Proteus-Like Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include skin, bone and ovary.

Wikipedia:71 Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain cause. more...

Related Diseases for Proteus-Like Syndrome

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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 defect12.1
2cowden syndrome 111.1
3proteus syndrome, somatic11.0
4pten hamartoma tumor syndrome11.0
5arteriovenous malformation9.7
6lipomatosis9.7
7hemihypertrophy9.7

Graphical network of diseases related to Proteus-Like Syndrome:



Diseases related to proteus-like syndrome

Symptoms & Phenotypes for Proteus-Like Syndrome

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Human phenotypes related to Proteus-Like Syndrome:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 polycystic ovaries64 HP:0000147
2 macrocephaly64 HP:0000256
3 dolichocephaly64 HP:0000268
4 mandibular prognathia64 HP:0000303
5 anteverted nares64 HP:0000463
6 downslanted palpebral fissures64 HP:0000494
7 cataract64 HP:0000518
8 retinal detachment64 HP:0000541
9 myopia64 HP:0000545
10 abnormality of the pupil64 HP:0000615
11 abnormality of the parathyroid gland64 HP:0000828
12 hemangioma64 HP:0001028
13 subcutaneous lipoma64 HP:0001031
14 heterochromia iridis64 HP:0001100
15 epibulbar dermoid64 HP:0001140
16 intellectual disability64 HP:0001249
17 communicating hydrocephalus64 HP:0001334
18 splenomegaly64 HP:0001744
19 skeletal dysplasia64 HP:0002652
20 genu recurvatum64 HP:0002816
21 venous insufficiency64 HP:0005293
22 irregular hyperpigmentation64 HP:0007400
23 shagreen patch64 HP:0009721
24 thymus hyperplasia64 HP:0010516
25 open bite64 HP:0010807
26 epidermal nevus64 HP:0010816
27 lower limb asymmetry64 HP:0100559
28 bronchogenic cyst64 HP:0100730
29 hyperostosis64 HP:0100774
30 exostoses64 HP:0100777

Drugs & Therapeutics for Proteus-Like Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Proteus-Like Syndrome

Genetic Tests for Proteus-Like Syndrome

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Genetic tests related to Proteus-Like Syndrome:

id Genetic test Affiliating Genes
1 Proteus-Like Syndrome27 24

Anatomical Context for Proteus-Like Syndrome

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MalaCards organs/tissues related to Proteus-Like Syndrome:

36
Skin, Bone, Ovary, Thymus

Publications for Proteus-Like Syndrome

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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

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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)SNVPathogenic/ Likely pathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
2PTENNM_ 000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889

Expression for genes affiliated with Proteus-Like Syndrome

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

Pathways for genes affiliated with Proteus-Like Syndrome

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GO Terms for genes affiliated with Proteus-Like Syndrome

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Sources for Proteus-Like Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet