MCID: PRT063
MIFTS: 24

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

MalaCards integrated aliases for Proteus-Like Syndrome:

Name: Proteus-Like Syndrome 53 29 6
Cohen-Hayden Syndrome 53

Classifications:



Summaries for Proteus-Like Syndrome

NIH Rare Diseases : 53 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 : 75 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:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 hallmark (90%) HP:0001249
2 open bite 32 hallmark (90%) HP:0010807
3 genu recurvatum 32 hallmark (90%) HP:0002816
4 myopia 32 hallmark (90%) HP:0000545
5 irregular hyperpigmentation 32 hallmark (90%) HP:0007400
6 subcutaneous lipoma 32 hallmark (90%) HP:0001031
7 hyperostosis 32 hallmark (90%) HP:0100774
8 hemangioma 32 hallmark (90%) HP:0001028
9 lower limb asymmetry 32 hallmark (90%) HP:0100559
10 epidermal nevus 32 hallmark (90%) HP:0010816
11 abnormal pupil morphology 32 hallmark (90%) HP:0000615
12 limbal dermoid 32 hallmark (90%) HP:0001140
13 macrocephaly 32 frequent (33%) HP:0000256
14 mandibular prognathia 32 frequent (33%) HP:0000303
15 cataract 32 frequent (33%) HP:0000518
16 exostoses 32 frequent (33%) HP:0100777
17 heterochromia iridis 32 frequent (33%) HP:0001100
18 retinal detachment 32 frequent (33%) HP:0000541
19 venous insufficiency 32 frequent (33%) HP:0005293
20 shagreen patch 32 frequent (33%) HP:0009721
21 communicating hydrocephalus 32 frequent (33%) HP:0001334
22 abnormality of the parathyroid gland 32 frequent (33%) HP:0000828
23 splenomegaly 32 occasional (7.5%) HP:0001744
24 skeletal dysplasia 32 occasional (7.5%) HP:0002652
25 anteverted nares 32 occasional (7.5%) HP:0000463
26 dolichocephaly 32 occasional (7.5%) HP:0000268
27 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
28 polycystic ovaries 32 occasional (7.5%) HP:0000147
29 thymus hyperplasia 32 occasional (7.5%) HP:0010516
30 bronchogenic cyst 32 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:

41
Skin, Bone, Ovary, Thymus, Breast

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. 38 71
10749983 2000
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 71
25190698 2014
3
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 71
17392703 2007
4
Proteus syndrome: misdiagnosis with PTEN mutations. 71
14518070 2003
5
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 71
12471211 2002
6
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 71
10353779 1999
7
Breast cancer risk and clinical implications for germline PTEN mutation carriers. 38
26700035 2017
8
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. 38
28523199 2017
9
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. 38
25549896 2015
10
Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers. 38
25158662 2014
11
Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy. 38
23382303 2013
12
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. 38
23124040 2013
13
Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype. 38
20815035 2010
14
980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome. 38
19627404 2010
15
PTEN hamartoma tumor syndrome: an overview. 38
19668082 2009
16
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. 38
18794875 2008
17
Cowden syndrome. 38
17920899 2007
18
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. 38
17033968 2006
19
PTEN: one gene, many syndromes. 38
12938083 2003
20
PTEN Hamartoma Tumor Syndrome 38
20301661 2001

Variations for Proteus-Like Syndrome

ClinVar genetic disease variations for Proteus-Like Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 10:89720852-89720852 10:87961095-87961095
2 PTEN NM_000314.7(PTEN): c.507del (p.Ser170fs) deletion Pathogenic rs587776673 10:89711889-89711889 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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