PS
MCID: PRT008
MIFTS: 57

Proteus Syndrome (PS) malady

Genetic diseases, Rare diseases, Infectious diseases categories

Summaries for Proteus Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Proteus syndrome is characterized by excessive growth of a part or portion of the body. the overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. it is caused by a change (mutation) in the akt1 gene. it is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. the akt1 gene mutation affects only a portion of the body cells. this is why only a portion of the body is affected and why individuals with proteus syndrome can be very differently affected. management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition. last updated: 9/28/2011

MalaCards: Proteus Syndrome, also known as partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly, is related to alzheimer's disease and cowden disease. An important gene associated with Proteus Syndrome is AKT1 (v-akt murine thymoma viral oncogene homolog 1), and among its related pathways are Transcription Androgen Receptor nuclear signaling and TCR signaling in naive CD4+ T cells. The compounds inositol 1,3,4,5-tetrakisphosphate and indole-3-carbinol have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and colon, and related mouse phenotypes are embryogenesis and respiratory system.

Genetics Home Reference:22 Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.

Wikipedia:66 Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf... more...

Description from OMIM:48 176920

GeneReviews summary for proteus

Aliases & Classifications for Proteus Syndrome

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63UMLS, 9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 36MeSH, 59SNOMED-CT, 41NCIt, 48OMIM, 26ICD10
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Classifications:



Aliases & Descriptions:

proteus syndrome 9 20 44 21 23 22 11 46 63
partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly 44
hemihypertrophy and macrocephaly 44
beckwith-wiedemann syndrome 63
wiedemann's syndrome 9
ps 22


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Disease Ontology9 DOID:13482
MeSH36 D016715
NCIt41 C85032
SNOMED-CT59 394527003, 23150001
OMIM48 176920
ICD1026 B96.4

Related Diseases for Proteus Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Proteus Syndrome family:

Proteus-Like Syndrome Pten-Related Proteus Syndrome

Diseases related to Proteus Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer's disease30.4AKT1, CALB2, CDKN3
2cowden disease30.3CDKN3, PTEN
3lipomatosis10.5
4proteus syndrome, somatic10.4
5scott syndrome10.3
6hemihypertrophy10.3
7hemimegalencephaly10.3
8encephalocraniocutaneous lipomatosis10.2
9nail-patella syndrome10.2
10macrocephaly mesodermal hamartoma spectrum10.2
11neurofibromatosis10.1
12pelvic lipomatosis10.1
13gingivitis10.1
14hemangioma10.1
15hydrocephalus10.1
16hyperostosis10.1
17lipoma10.1
18meningioma10.1
19precocious puberty10.1
20mental retardation10.1
21pten-related proteus syndrome10.1
22thromboembolism10.1
23cowden syndrome 110.1PTEN
24bannayan-riley-ruvalcaba syndrome10.1PTEN
25mucocutaneous leishmaniasis10.1
26leishmaniasis10.1
27leopard syndrome10.1CDKN3
28adenofibroma10.1CALB2
29cerebral cavernous malformation10.1PTEN, CDKN3
30peutz-jeghers syndrome10.0CDKN3, PTEN
31tuberous sclerosis10.0PTEN, AKT1, CDKN3
32thyroid cancer10.0PTEN, CDKN3, AKT1
33prostate cancer10.0CDKN3, AKT1, PTEN
34endometrial carcinoma10.0CALB2, PTEN
35hepatocellular carcinoma10.0GPC3, AKT1, PTEN
36astrocytoma10.0CDKN3, AKT1, PTEN
37neurilemmoma10.0AKT1, CALB2
38renal clear cell carcinoma10.0PTEN, CALB2
39thymoma10.0CALB2, AKT1
40stomach cancer10.0GPC3, PTEN, AKT1
41glioblastoma multiforme10.0CDKN3, AKT1, PTEN
42klippel-trenaunay syndrome10.0
43ductal carcinoma in situ10.0
44spinal meningioma10.0
45diabetes insipidus10.0
46klippel-feil syndrome10.0
47cerebritis10.0
48carpal tunnel syndrome10.0
49arachnoiditis10.0
50giant hemangioma10.0

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



Diseases related to proteus syndrome

Symptoms for Proteus Syndrome

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48OMIM
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Clinical features from OMIM:

176920

Drugs & Therapeutics for Proteus Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Proteus Syndrome

Drug clinical trials:

Search ClinicalTrials for Proteus Syndrome

Search NIH Clinical Center for Proteus Syndrome

Search CenterWatch for Proteus Syndrome

Genetic Tests for Proteus Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Proteus Syndrome:

id Genetic test Affiliating Genes
1 Proteus Syndrome21 23 AKT1

Anatomical Context for Proteus Syndrome

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34MalaCards
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MalaCards organs/tissues related to Proteus Syndrome:

34
Bone, Skin, Colon, Lung, Eye, Spleen, Brain, Liver, Breast

Animal Models for Proteus Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Proteus Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6AKT1, PTEN, LEFTY2, GPC3
2MP:00053888.3AKT1, PTEN, LEFTY2, GPC3

Publications for Proteus Syndrome

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53PubMed
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Articles related to Proteus Syndrome:

(show top 50)    (show all 258)
idTitleAuthorsYear
1
Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation. (24387135)
2014
2
AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome. (23884311)
2014
3
Concurrent splenic lymphangiomatosis and Proteus syndrome. (24043010)
2013
4
Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma. (23559393)
2013
5
Proteus syndrome: a case report with bone scintigraphy findings. (23337098)
2013
6
Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel-Feil syndrome. (23760594)
2013
7
A severe and rapidly progressive case of proteus syndrome in a neonate who presented with unilateral hydrocephalus apart from other typical features of the proteus syndrome. (24027714)
2012
8
Cerebriform plantar hyperplasia: the clinico-pathological hallmark of Proteus syndrome. (21681363)
2011
9
Assessment and management of the orthopedic and other complications of Proteus syndrome. (23024722)
2011
10
An unusual initial presentation of Proteus syndrome: macrosyndactyly. (21417989)
2011
11
Chronic rectal bleeding in Proteus syndrome. (21901955)
2010
12
Pulmonary manifestations and management of proteus syndrome. (20497874)
2010
13
Management of craniofacial hyperostosis in Proteus syndrome. (20216456)
2010
14
Endovascular treatment of disseminated complex aortic vascular malformations in a patient with proteus syndrome. (20971228)
2010
15
Unilateral ovarian dermoid cyst accompanied by an ipsilateral paratubal cyst in a girl with Proteus Syndrome discovered by laparoscopic surgery. (19833537)
2010
16
Proteus syndrome: report of a case with recurrent abdominal lipomatosis. (19361616)
2009
17
Monozygotic twins discordant for Proteus syndrome. (18627057)
2008
18
Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. (17702022)
2007
19
A mild form of Proteus syndrome. (18035995)
2007
20
Proteus syndrome with agenesis of the rectus abdominis. (17034561)
2006
21
A female with hemihypertrophy and chylous ascites - Klippel-Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma. (16957479)
2006
22
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. (16704655)
2006
23
Windblown foot: a particular presentation of Proteus syndrome? (16440890)
2005
24
Recalcitrant scoliosis in Proteus syndrome. (16035717)
2005
25
Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome. (16462730)
2005
26
Ossicular discontinuity and exostoses in Proteus syndrome: a case report. (15825577)
2005
27
Radiologic manifestations of Proteus syndrome. (15256628)
2004
28
Proteus syndrome associated with liver involvement: case report. (12872817)
2003
29
Proteus syndrome and somatic mosaicism of the chromosome 16. (15206168)
2003
30
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. (12471211)
2002
31
A muscular lesion suggestive of focal myositis in a child with Proteus syndrome. (12439276)
2002
32
Proteus syndrome. (12027091)
2002
33
Proteus syndrome. (11586023)
2001
34
Symptomatic diffuse colonic lipomatosis in Proteus syndrome. (11454051)
2001
35
Proteus syndrome: diagnosis in adulthood. (9764165)
1998
36
Non-operative management of a splenic laceration in a patient with the Proteus syndrome. (9132186)
1997
37
Proteus syndrome: new findings in seven patients. (9050755)
1997
38
Neoplasms in Proteus syndrome. (7645604)
1995
39
Unusual distribution of enamel hypoplasia in an 11-year-old child with Proteus syndrome. (7547812)
1995
40
Proteus syndrome. (7873827)
1994
41
Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome. (7516626)
1994
42
Proteus syndrome: clinical evidence for somatic mosaicism and selective review. (8266991)
1993
43
Transmission of Proteus syndrome from father to son? (1770536)
1991
44
Prenatal sonographic findings in a fetus with Proteus syndrome. (1847725)
1991
45
Proteus syndrome (report of three cases). (2357192)
1990
46
Proteus syndrome and neurofibromatosis. (2518518)
1989
47
Proteus syndrome. (2616392)
1989
48
Proteus syndrome. (2667470)
1989
49
Proteus syndrome: an expanded phenotype. (3605210)
1987
50
The Proteus syndrome: the Elephant Man diagnosed. (3092979)
1986

Variations for Proteus Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Proteus Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1AKT1NM_001014431.1(AKT1): c.49G> A (p.Glu17Lys)single nucleotide variantPathogenicrs121434592GRCh37Chr 14, 105246551: 105246551
2CDKN1CNM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter)single nucleotide variantPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
3CDKN1CNM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter)single nucleotide variantPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
4CDKN1CNM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter)single nucleotide variantPathogenicrs137852766GRCh37Chr 11, 2906581: 2906581
5CDKN1CNM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs)indelPathogenicrs387906399GRCh37Chr 11, 2906409: 2906410
6CDKN1CNM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs104894200GRCh37Chr 11, 2905980: 2905980

Expression for genes affiliated with Proteus Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proteus Syndrome

Search GEO for disease gene expression data for Proteus Syndrome.

Pathways for genes affiliated with Proteus Syndrome

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 13EMD Millipore, 58SinoBiological, 55R&D Systems, 5Cell Signaling Technology, 52PharmGKB
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Pathways related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.7PTEN, AKT1
2
Show member pathways
TCR signaling in naive CD8+ T cells39
9.7PTEN, AKT1
39.7PTEN, AKT1
49.7AKT1, PTEN
59.7AKT1, PTEN
6
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.7AKT1, PTEN
7
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.7AKT1, PTEN
8
Show member pathways
9.7AKT1, PTEN
99.7AKT1, PTEN
109.7AKT1, PTEN
119.7AKT1, PTEN
12
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
9.7AKT1, PTEN
139.7AKT1, PTEN
14
Show member pathways
9.7AKT1, PTEN
159.6AKT1, LEFTY2
16
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.1AKT1, PTEN, GPC3

Compounds for genes affiliated with Proteus Syndrome

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46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB, 30IUPHAR, 3BitterDB
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Compounds related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate46 1211.1PTEN, AKT1
2indole-3-carbinol4610.0AKT1, PTEN
3hematoxylin469.7CALB2, PTEN
4ptdins(3)p469.7CDKN3, AKT1
5phosphatidylinositol 3-phosphate469.6CDKN3, PTEN
6cetuximab46 52 1211.6PTEN, CDKN3
7gemcitabine46 52 1211.6PTEN, AKT1
8bicalutamide46 62 1211.6PTEN, CDKN3
9gsno469.6PTEN, CDKN3
10diphenyleneiodonium469.5AKT1, CDKN3
11paclitaxel46 52 1211.5PTEN, AKT1, CALB2
12erlotinib46 52 1211.5CDKN3, PTEN
13paraffin469.5PTEN, AKT1, CALB2
14trastuzumab46 52 1211.5CDKN3, PTEN
15c2ceramide469.5CDKN3, AKT1
16calyculin a46 62 1211.3CDKN3, AKT1, PTEN
17gefitinib46 52 1211.3CDKN3, AKT1, PTEN
18phosphatidylinositol-3,4,5-trisphosphate46 2510.3CDKN3, AKT1, PTEN
19inositol469.3CDKN3, AKT1, PTEN
20lactacystin469.3CDKN3, AKT1
21arsenite46 2510.3CDKN3, AKT1, PTEN
22etoposide46 52 62 1212.3CDKN3, AKT1, PTEN
23rapamycin469.2CDKN3, AKT1, PTEN
24ly294002469.2CDKN3, AKT1, PTEN
25wortmannin469.2PTEN, AKT1, CDKN3
26glycogen46 2510.2CDKN3, AKT1, PTEN
27progesterone46 30 62 25 1213.2CALB2, PTEN, LEFTY2
28phosphoinositide469.2CDKN3, AKT1, PTEN
295-hydroxytryptamine469.2AKT1, CALB2, CDKN3
30genistein46 30 62 3 25 1214.2CDKN3, AKT1, PTEN
31butyrate469.1AKT1, CALB2, CDKN3
32nmda46 3010.1CDKN3, CALB2, AKT1
33acetylcholine46 52 30 25 1213.1CDKN3, CALB2, AKT1
34cisplatin46 52 62 1212.1CDKN3, AKT1, PTEN
35aspartate469.1PTEN, AKT1, CDKN3
36cycloheximide469.0PTEN, AKT1, CDKN3
37nocodazole46 1210.0AKT1, CDKN3
38h2o2468.9PTEN, AKT1, CDKN3
39testosterone46 62 25 1211.8PTEN, AKT1, CALB2, CDKN3
40tyrosine468.3CDKN3, CALB2, AKT1, PTEN
41estrogen468.3LEFTY2, PTEN, AKT1, CALB2, CDKN3

GO Terms for genes affiliated with Proteus Syndrome

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17Gene Ontology
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Biological processes related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of neuron projection developmentGO:0109759.9AKT1, PTEN
2negative regulation of cell sizeGO:0457929.9AKT1, PTEN
3protein kinase B signalingGO:0434919.8AKT1, PTEN
4agingGO:0075689.7AKT1, PTEN
5positive regulation of glucose importGO:0463269.7GPC3, AKT1
6negative regulation of epithelial cell proliferationGO:0506809.6PTEN, GPC3
7positive regulation of endothelial cell proliferationGO:0019389.5AGGF1, AKT1
8positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.4AKT1, PTEN
9regulation of cyclin-dependent protein serine/threonine kinase activityGO:0000799.3PTEN, CDKN3
10peptidyl-tyrosine dephosphorylationGO:0353359.2CDKN3, PTEN

Molecular functions related to Proteus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine phosphatase activityGO:0047259.2CDKN3, PTEN
2protein tyrosine/serine/threonine phosphatase activityGO:0081389.1CDKN3, PTEN
3protein serine/threonine phosphatase activityGO:0047228.9CDKN3, PTEN

Products for genes affiliated with Proteus Syndrome

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Sources for Proteus Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet