MCID: PRT063
MIFTS: 26

Proteus-Like Syndrome

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

Aliases & Classifications for Proteus-Like Syndrome

Summaries for Proteus-Like Syndrome

NIH Rare Diseases : 49 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 pten hamartoma tumor syndrome, 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.

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 12.2
2 pten hamartoma tumor syndrome 11.2
3 cowden syndrome 1 11.2
4 proteus syndrome 11.1
5 hemihyperplasia, isolated 9.8
6 arteriovenous malformation 9.8
7 lipomatosis 9.8

Graphical network of the top 20 diseases related to Proteus-Like Syndrome:



Diseases related to Proteus-Like Syndrome

Symptoms & Phenotypes for Proteus-Like Syndrome

Human phenotypes related to Proteus-Like Syndrome:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 polycystic ovaries 31 occasional (7.5%) HP:0000147
2 macrocephaly 31 frequent (33%) HP:0000256
3 dolichocephaly 31 occasional (7.5%) HP:0000268
4 mandibular prognathia 31 frequent (33%) HP:0000303
5 anteverted nares 31 occasional (7.5%) HP:0000463
6 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
7 cataract 31 frequent (33%) HP:0000518
8 retinal detachment 31 frequent (33%) HP:0000541
9 myopia 31 hallmark (90%) HP:0000545
10 abnormal pupil morphology 31 hallmark (90%) HP:0000615
11 abnormality of the parathyroid gland 31 frequent (33%) HP:0000828
12 hemangioma 31 hallmark (90%) HP:0001028
13 subcutaneous lipoma 31 hallmark (90%) HP:0001031
14 heterochromia iridis 31 frequent (33%) HP:0001100
15 epibulbar dermoid 31 hallmark (90%) HP:0001140
16 intellectual disability 31 hallmark (90%) HP:0001249
17 communicating hydrocephalus 31 frequent (33%) HP:0001334
18 splenomegaly 31 occasional (7.5%) HP:0001744
19 skeletal dysplasia 31 occasional (7.5%) HP:0002652
20 genu recurvatum 31 hallmark (90%) HP:0002816
21 venous insufficiency 31 frequent (33%) HP:0005293
22 irregular hyperpigmentation 31 hallmark (90%) HP:0007400
23 shagreen patch 31 frequent (33%) HP:0009721
24 thymus hyperplasia 31 occasional (7.5%) HP:0010516
25 open bite 31 hallmark (90%) HP:0010807
26 epidermal nevus 31 hallmark (90%) HP:0010816
27 lower limb asymmetry 31 hallmark (90%) HP:0100559
28 bronchogenic cyst 31 occasional (7.5%) HP:0100730
29 hyperostosis 31 hallmark (90%) HP:0100774
30 exostoses 31 frequent (33%) HP:0100777

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 28

Anatomical Context for Proteus-Like Syndrome

MalaCards organs/tissues related to Proteus-Like Syndrome:

38
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
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

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/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
2 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889

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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9 Cosmic
10 dbSNP
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16 ExPASy
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27 GO
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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