MCID: PRT063
MIFTS: 25

Proteus-Like Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Proteus-Like Syndrome

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Proteus-Like Syndrome:

Name: Proteus-Like Syndrome 45 22 51 24
 
Cohen-Hayden Syndrome 45 51

Characteristics:

Orphanet epidemiological data:

51
proteus-like syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 2969
ICD10 via Orphanet28 Q87.3
UMLS via Orphanet66 C1866398

Summaries for Proteus-Like Syndrome

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NIH Rare Diseases:45 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 proteus syndrome, somatic, and has symptoms including dental malocclusion, pupillary anomalies/mydriasis/myosis/tonic pupil and conjunctival tumor/epibulbar dermoid. An important gene associated with Proteus-Like Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include skin, bone and colon.

Wikipedia:68 Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain etiology. 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 defect12.2
2proteus syndrome, somatic10.1
3pten hamartoma tumor syndrome10.1
4arteriovenous malformation9.9
5lipomatosis9.9

Graphical network of diseases related to Proteus-Like Syndrome:



Diseases related to proteus-like syndrome

Symptoms for Proteus-Like Syndrome

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Symptoms:

 51 (show all 35)
  • dental malocclusion
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • conjunctival tumor/epibulbar dermoid
  • myopia
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • genu recurvatum
  • irregular/in bands/reticular skin hyperpigmentation
  • pigmented naevi/naevus pigmentosus/lentigo
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • exostoses
  • autosomal dominant inheritance
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • prognathism/prognathia
  • heterochromia/mixed colouring of iris
  • cataract/lens opacification
  • retinal detachment
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • shagreen patch
  • xanthomas/lipomas
  • polyposis of the bowel/colon/intestine
  • varices/varicous veins/venous insufficiency
  • parathyroids anomalies
  • communicating hydrocephaly
  • hyperostosis
  • dolichocephaly/scaphocephaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • anteverted nares/nostrils
  • splenomegaly
  • bronchogenic cyst
  • thymic hyperplasia
  • abnormal/polycystic ovaries
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia

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 Syndrome22

Anatomical Context for Proteus-Like Syndrome

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MalaCards organs/tissues related to Proteus-Like Syndrome:

33
Skin, Bone, Colon, Tongue, Ovary, Eye

Animal Models for Proteus-Like Syndrome or affiliated genes

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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)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

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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet