PS
MCID: PRT008
MIFTS: 56

Proteus Syndrome (PS) malady

Infectious diseases category

Summaries for Proteus Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 rhabdomyosarcoma and neuroblastoma. An important gene associated with Proteus Syndrome is AKT1 (v-akt murine thymoma viral oncogene homolog 1), and among its related pathways are Signaling by NODAL and Axon guidance. The compounds inositol 1,3,4,5-tetrakisphosphate and ptdins(3)p have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and colon, and related mouse phenotypes are respiratory system and embryogenesis.

Genetics Home Reference:21 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:63 Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf... more...

Description from OMIM:46 176920

GeneReviews summary for proteus

Aliases & Classifications for Proteus Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Infectious diseases


Aliases & Descriptions:

proteus syndrome 8 19 42 20 22 21 10 44 60
partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly 42
hemihypertrophy and macrocephaly 42
beckwith-wiedemann syndrome 60
wiedemann's syndrome 8
ps 21


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Disease Ontology8 DOID:13482
NCIt39 C85032
MeSH34 D016715
SNOMED-CT56 394527003, 23150001
OMIM46 176920
ICD1025 B96.4

Related Diseases for Proteus Syndrome

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17GeneCards, 18GeneDecks
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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 182)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma30.8CALB2, AKT1
2neuroblastoma30.7AKT1
3meningioma30.1PTEN, CALB2
4cowden disease30.1LYPD1, PTEN, CDKN3
5klippel-trenaunay syndrome30.1PDCD10, AGGF1, GLMN
6beckwith-wiedemann syndrome11.5
7hepatoblastoma10.8
8pancreatitis10.6
9silver-russell syndrome10.6
10pancreatoblastoma10.5
11adenoma10.5
12lipomatosis10.5
13sotos syndrome10.4
14cleft palate10.4
15hyperinsulinism10.4
16acute leukemia10.4
17adrenal adenoma10.4
18adrenocortical carcinoma10.4
19hepatitis10.4
20leukemia10.4
21urethritis10.3
22urethral syndrome10.3
23aniridia10.3
24bladder neck obstruction10.3
25alveolar rhabdomyosarcoma10.3
26hypoglycemia10.3
27adult syndrome10.3
28hypertension10.3
29renal cell carcinoma10.3
30pheochromocytoma10.3
31beckwith-wiedemann syndrome due to cdkn1c mutation10.3
32beckwith-wiedemann syndrome due to 11p15 microdeletion10.3
33beckwith-wiedemann syndrome due to 11p15 translocation/inversion10.3
34beckwith-wiedemann syndrome due to imprinting defect of 11p1510.3
35beckwith-wiedemann syndrome due to nsd1 mutation10.3
36beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1110.3
37beckwith-wiedemann syndrome due to 11p15 microduplication10.3
38proteus syndrome, somatic10.3
39alzheimer's disease10.3
40scott syndrome10.3
41hellp syndrome10.2
42megakaryocytic leukemia10.2
43wagr syndrome10.2
44renal wilms' tumor10.2
45chorioangioma10.2
46choroiditis10.2
47sensorineural hearing loss10.2
48congenital hypothyroidism10.2
49arteriovenous malformation10.2
50acute myeloid leukemia10.2

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



Diseases related to proteus syndrome

Clinical Features for Proteus Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

176920

Drugs & Therapeutics for Proteus Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Proteus Syndrome:

id Genetic test Affiliating Genes
1 Proteus Syndrome20 22 AKT1

Anatomical Context for Proteus Syndrome

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32MalaCards
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MalaCards organs/tissues related to Proteus Syndrome:

32
Bone, Skin, Colon, Lung, Eye, Spleen, Brain, Liver, Breast

Animal Models for Proteus Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Proteus Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2AKT1, GPC3, LEFTY2, LEFTY1, PTEN
2MP:00053807.9PDCD10, AKT1, GLMN, GPC3, LEFTY2, LEFTY1
3MP:00053857.9PDCD10, AKT1, GLMN, GPC3, LEFTY2, LEFTY1
4MP:00053847.8PTEN, LEFTY1, GPC3, GLMN, SYNGAP1, AKT1
5MP:00053787.5PDCD10, AKT1, SYNGAP1, GLMN, GPC3, LEFTY2
6MP:00107687.4PDCD10, AKT1, SYNGAP1, GLMN, GPC3, LEFTY2
7MP:00036316.7LYPD1, CALB2, PDCD10, AKT1, SYNGAP1, GLMN

Publications for Proteus Syndrome

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50PubMed
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Articles related to Proteus Syndrome:

(show top 50)    (show all 263)
idTitleAuthorsYear
1
Proteus syndrome: a case report with bone scintigraphy findings. (23337098)
2013
2
Resident rounds. Part III. A case of Proteus syndrome. (23652959)
2013
3
First Isolation of carbon dioxide-dependent Proteus mirabilis from an uncomplicated cystitis patient with SjAPgren's syndrome. (23698488)
2013
4
Proteus syndrome: three case reports with a review of the literature. (22413928)
2012
5
Imaging manifestations in Proteus syndrome: an unusual multisystem developmental disorder. (22514103)
2012
6
Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. (22286403)
2012
7
An unusual initial presentation of Proteus syndrome: macrosyndactyly. (21417989)
2011
8
Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria. (22134251)
2011
9
Penile reconstruction for a case of genital lymphoedema secondary to proteus syndrome. (22084799)
2011
10
Neurognostics Question. Metamorphosis of a man: diagnosing Joseph Merrick. Proteus syndrome. (20446160)
2010
11
Monozygotic twins discordant for Proteus syndrome. (18627057)
2008
12
A rare case of Proteus syndrome. (18279570)
2008
13
Kasabach-Merritt syndrome caused by giant hemangiomas of the spleen in patients with Proteus syndrome. (17581327)
2007
14
Type 2 segmental Cowden disease vs. Proteus syndrome. (17388921)
2007
15
Morphological characterization of the breast in Proteus syndrome complicated by ductal carcinoma in situ. (17127737)
2006
16
Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome. (16462730)
2005
17
Ossicular discontinuity and exostoses in Proteus syndrome: a case report. (15825577)
2005
18
Proteus syndrome: an update. (16010681)
2005
19
Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning. (16100477)
2005
20
Radiologic manifestations of Proteus syndrome. (15256628)
2004
21
Acetabular dysplasia associated with intra-articular lipomatous lesions in proteus syndrome. A case report. (15069153)
2004
22
Anesthesia for proteus syndrome. (15283831)
2004
23
Proteus syndrome with gingival hyperplasia. (14521702)
2003
24
Proteus syndrome in adulthood. (11910228)
2002
25
Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. (12077761)
2002
26
Lipomatosis of the colon complicating Proteus syndrome. (11919100)
2002
27
The multifaceted challenges of Proteus syndrome. (11325326)
2001
28
Proteus syndrome: clinical and surgical aspects. (11164195)
2000
29
Proteus syndrome: new findings in seven patients. (9050755)
1997
30
Proteus syndrome and distal arthrogryposis. (9457508)
1997
31
Isolated macrodactyly and Proteus syndrome. (8818455)
1996
32
Neoplasms in Proteus syndrome. (7645604)
1995
33
Regional Proteus syndrome: report of an autopsy case. (7551015)
1995
34
Proteus syndrome: emphasis on the pulmonary manifestations. (7936796)
1994
35
Regional Proteus syndrome and somatic mosaicism. (8030665)
1994
36
Proteus syndrome. (7971556)
1994
37
A case of Proteus syndrome. (8014569)
1994
38
A case illustrating Proteus and Klippel-Trenaunay syndrome overlap. (8078049)
1993
39
Proteus syndrome: clinical evidence for somatic mosaicism and selective review. (8266991)
1993
40
Ophthalmologic examination in the diagnosis of Proteus syndrome. (8460002)
1993
41
Radiological case of the month. Proteus syndrome: benign angiolipomatous tumor with intraspinal extension. (8249957)
1993
42
Proteus syndrome: diagnosis and surgical management. (8429472)
1993
43
Musculoskeletal manifestations of Proteus syndrome: report of two cases with literature review. (1517432)
1992
44
The Proteus syndrome: association with nephrogenic diabetes insipidus. (2208765)
1990
45
Proteus syndrome: course of a severe case. (2309770)
1990
46
Proteus syndrome. (2616392)
1989
47
Report of a case resembling the Proteus syndrome with a chromosome abnormality. (3239588)
1988
48
Radiologic findings in the Proteus syndrome. (3684361)
1987
49
Further and new details on the Proteus syndrome. (6510436)
1984
50
Proteus syndrome. (6427415)
1984

Genetic Variations for Proteus Syndrome

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Expression for genes affiliated with Proteus Syndrome

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database
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Pathways related to Proteus Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6LEFTY1, LEFTY2
2
Hide members
9.6LEFTY1, LEFTY2
39.3PTEN, LEFTY1, AKT1

Compounds for genes affiliated with Proteus Syndrome

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 24HMDB, 28IUPHAR
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Compounds related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate44 1111.0AKT1, PTEN
2ptdins(3)p449.8AKT1, CDKN3
3calyculin a44 59 1111.7PTEN, CDKN3, AKT1
4phosphatidylinositol 3-phosphate449.7PTEN, CDKN3
5gefitinib44 49 1111.7PTEN, CDKN3, AKT1
6bicalutamide44 59 1111.7PTEN, CDKN3
7phosphatidylinositol-3,4,5-trisphosphate44 2410.6PTEN, CDKN3, AKT1
8inositol449.6PTEN, CDKN3, AKT1
9arsenite44 2410.5PTEN, CDKN3, AKT1
10cetuximab44 49 1111.4PTEN, CDKN3
11rapamycin449.2AKT1, GLMN, CDKN3, PTEN
125-hydroxytryptamine449.1CALB2, AKT1, CDKN3
13nmda44 289.8CALB2, AKT1, SYNGAP1, CDKN3
14estrogen448.5CALB2, AKT1, CDKN3, LEFTY2, PTEN
15testosterone44 59 11 2411.5CALB2, AKT1, CDKN3, PTEN

GO Terms for genes affiliated with Proteus Syndrome

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16Gene Ontology
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Biological processes related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.1PTEN, AKT1
2regulation of neuron projection developmentGO:01097510.0PTEN, AKT1
3negative regulation of axonogenesisGO:0507719.9PTEN, SYNGAP1
4positive regulation of glucose importGO:0463269.7GPC3, AKT1
5protein kinase B signaling cascadeGO:0434919.6PTEN, AKT1
6angiogenesisGO:0015259.5PTEN, AGGF1, PDCD10
7negative regulation of apoptotic processGO:0430669.3PDCD10, AKT1, SYNGAP1, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:0081389.7PTEN, CDKN3
2transforming growth factor beta receptor bindingGO:0051609.3LEFTY1, LEFTY2

Products for genes affiliated with Proteus Syndrome

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Sources for Proteus Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet