MCID: PRT063
MIFTS: 25

Proteus-Like Syndrome

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Proteus-Like Syndrome

Summaries for Proteus-Like Syndrome

NIH Rare Diseases : 54 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.

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, bone and ovary, and related phenotypes are intellectual disability and open bite

Wikipedia : 77 Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain... more...

Related Diseases for Proteus-Like Syndrome

Diseases in the Proteus Syndrome family:

Proteus-Like Syndrome

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

# Related Disease Score Top Affiliating Genes
1 proteus like syndrome mental retardation eye defect 12.4
2 cowden syndrome 1 12.0
3 proteus syndrome 11.2
4 lipomatosis 9.9

Symptoms & Phenotypes for Proteus-Like Syndrome

Human phenotypes related to Proteus-Like Syndrome:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 hallmark (90%) HP:0001249
2 open bite 33 hallmark (90%) HP:0010807
3 genu recurvatum 33 hallmark (90%) HP:0002816
4 myopia 33 hallmark (90%) HP:0000545
5 irregular hyperpigmentation 33 hallmark (90%) HP:0007400
6 subcutaneous lipoma 33 hallmark (90%) HP:0001031
7 hyperostosis 33 hallmark (90%) HP:0100774
8 lower limb asymmetry 33 hallmark (90%) HP:0100559
9 epidermal nevus 33 hallmark (90%) HP:0010816
10 hemangioma 33 hallmark (90%) HP:0001028
11 abnormal pupil morphology 33 hallmark (90%) HP:0000615
12 limbal dermoid 33 hallmark (90%) HP:0001140
13 macrocephaly 33 frequent (33%) HP:0000256
14 mandibular prognathia 33 frequent (33%) HP:0000303
15 cataract 33 frequent (33%) HP:0000518
16 exostoses 33 frequent (33%) HP:0100777
17 heterochromia iridis 33 frequent (33%) HP:0001100
18 retinal detachment 33 frequent (33%) HP:0000541
19 venous insufficiency 33 frequent (33%) HP:0005293
20 shagreen patch 33 frequent (33%) HP:0009721
21 communicating hydrocephalus 33 frequent (33%) HP:0001334
22 abnormality of the parathyroid gland 33 frequent (33%) HP:0000828
23 splenomegaly 33 occasional (7.5%) HP:0001744
24 skeletal dysplasia 33 occasional (7.5%) HP:0002652
25 anteverted nares 33 occasional (7.5%) HP:0000463
26 dolichocephaly 33 occasional (7.5%) HP:0000268
27 downslanted palpebral fissures 33 occasional (7.5%) HP:0000494
28 polycystic ovaries 33 occasional (7.5%) HP:0000147
29 thymus hyperplasia 33 occasional (7.5%) HP:0010516
30 bronchogenic cyst 33 occasional (7.5%) HP:0100730

Drugs & Therapeutics for Proteus-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Proteus-Like Syndrome

Genetic Tests for Proteus-Like Syndrome

Genetic tests related to Proteus-Like Syndrome:

# Genetic test Affiliating Genes
1 Proteus-Like Syndrome 30

Anatomical Context for Proteus-Like Syndrome

MalaCards organs/tissues related to Proteus-Like Syndrome:

42
Skin, Bone, Ovary, Thymus

Publications for Proteus-Like Syndrome

Articles related to Proteus-Like Syndrome:

# Title Authors Year
1
980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome. ( 19627404 )
2010
2
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

ClinVar genetic disease variations for Proteus-Like Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
2 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
3 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
4 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh38 Chromosome 10, 87952132: 87952132

Expression for Proteus-Like Syndrome

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

Pathways for Proteus-Like Syndrome

GO Terms for Proteus-Like Syndrome

Sources for Proteus-Like Syndrome

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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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33 HPO
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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