MCID: PRT063
MIFTS: 28

Proteus-Like Syndrome

Categories: 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 : 52 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 bone, skin and ovary, and related phenotypes are intellectual disability and open bite

Wikipedia : 74 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 proteus like syndrome mental retardation eye defect 12.5
2 cowden syndrome 1 12.3
3 proteus syndrome 11.7
4 ruvalcaba syndrome 10.1
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
6 lipomatosis 10.1
7 cowden syndrome 10.1
8 lipomatosis, multiple 9.9
9 hemihyperplasia, isolated 9.9
10 arteriovenous malformation 9.9
11 overgrowth syndrome 9.9

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

Anatomical Context for Proteus-Like Syndrome

MalaCards organs/tissues related to Proteus-Like Syndrome:

40
Bone, Skin, Ovary, Thymus, Breast, Eye, Heart

Publications for Proteus-Like Syndrome

Articles related to Proteus-Like Syndrome:

(show all 20)
# Title Authors PMID Year
1
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 61 6
10749983 2000
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
3
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 6
17392703 2007
4
Proteus syndrome: misdiagnosis with PTEN mutations. 6
14518070 2003
5
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 6
12471211 2002
6
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 6
10353779 1999
7
Breast cancer risk and clinical implications for germline PTEN mutation carriers. 61
26700035 2017
8
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. 61
28523199 2017
9
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. 61
25549896 2015
10
Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers. 61
25158662 2014
11
Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy. 61
23382303 2013
12
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. 61
23124040 2013
13
Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype. 61
20815035 2010
14
980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome. 61
19627404 2010
15
PTEN hamartoma tumor syndrome: an overview. 61
19668082 2009
16
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. 61
18794875 2008
17
Cowden syndrome. 61
17920899 2007
18
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. 61
17033968 2006
19
PTEN: one gene, many syndromes. 61
12938083 2003
20
PTEN Hamartoma Tumor Syndrome 61
20301661 2001

Variations for Proteus-Like Syndrome

ClinVar genetic disease variations for Proteus-Like Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter)SNV Pathogenic 7833 rs121909231 10:89720852-89720852 10:87961095-87961095
2 PTEN NM_001304718.2(PTEN):c.-85deldeletion Pathogenic 7843 rs587776673 10:89711887-89711887 10:87952130-87952130

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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