MCID: PRT063
MIFTS: 25

Proteus-Like Syndrome malady

Genetic diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases categories

Summaries for Proteus-Like Syndrome

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Wikipedia:63 Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain etiology. more...

MalaCards based summary: Proteus-Like Syndrome, also known as cohen-hayden syndrome, is related to cohen hayden syndrome and proteus syndrome, somatic, and has symptoms including myopia, abnormality of the pupil and dental malocclusion. An important gene associated with Proteus-Like Syndrome is PTEN (phosphatase and tensin homolog). Affiliated tissues include skin, ovary and thymus.

Aliases & Classifications for Proteus-Like Syndrome

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Sources:
20GeneTests, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Proteus-Like Syndrome, Aliases & Descriptions:

Name: Proteus-Like Syndrome 20 47 22
 
Cohen-Hayden Syndrome 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
proteus-like syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 2969
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet61 C1866398

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
1cohen hayden syndrome10.3
2proteus syndrome, somatic10.1
3arteriovenous malformation10.1
4lipomatosis10.1

Symptoms for Proteus-Like Syndrome

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Symptoms:

 47 (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

HPO human phenotypes related to Proteus-Like Syndrome:

(show all 31)
id Description Frequency HPO Source Accession
1 myopia hallmark (90%) HP:0000545
2 abnormality of the pupil hallmark (90%) HP:0000615
3 dental malocclusion hallmark (90%) HP:0000689
4 melanocytic nevus hallmark (90%) HP:0000995
5 epibulbar dermoid hallmark (90%) HP:0001140
6 genu recurvatum hallmark (90%) HP:0002816
7 irregular hyperpigmentation hallmark (90%) HP:0007400
8 arteriovenous malformation hallmark (90%) HP:0100026
9 cognitive impairment hallmark (90%) HP:0100543
10 lower limb asymmetry hallmark (90%) HP:0100559
11 exostoses hallmark (90%) HP:0100777
12 macrocephaly typical (50%) HP:0000256
13 mandibular prognathia typical (50%) HP:0000303
14 cataract typical (50%) HP:0000518
15 retinal detachment typical (50%) HP:0000541
16 abnormality of the parathyroid gland typical (50%) HP:0000828
17 multiple lipomas typical (50%) HP:0001012
18 heterochromia iridis typical (50%) HP:0001100
19 communicating hydrocephalus typical (50%) HP:0001334
20 venous insufficiency typical (50%) HP:0005293
21 shagreen patch typical (50%) HP:0009721
22 hyperostosis typical (50%) HP:0100774
23 intestinal polyposis typical (50%) HP:0200008
24 polycystic ovaries occasional (7.5%) HP:0000147
25 dolichocephaly occasional (7.5%) HP:0000268
26 anteverted nares occasional (7.5%) HP:0000463
27 downslanted palpebral fissures occasional (7.5%) HP:0000494
28 splenomegaly occasional (7.5%) HP:0001744
29 skeletal dysplasia occasional (7.5%) HP:0002652
30 thymus hyperplasia occasional (7.5%) HP:0010516
31 bronchogenic cyst occasional (7.5%) HP:0100730

Drugs & Therapeutics for Proteus-Like Syndrome

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Drug clinical trials:

Search ClinicalTrials for Proteus-Like Syndrome

Search 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 Syndrome20 22

Anatomical Context for Proteus-Like Syndrome

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MalaCards organs/tissues related to Proteus-Like Syndrome:

31
Skin, Ovary, Thymus, Colon, Tongue

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
2PTENNM_000314.4(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicGRCh37Chr 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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Compounds for genes affiliated with Proteus-Like Syndrome

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GO Terms for genes affiliated with Proteus-Like Syndrome

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Products for genes affiliated with Proteus-Like Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Proteus-Like Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet