PS
MCID: PRT008
MIFTS: 55

Proteus Syndrome (PS) malady

Infectious category

Summaries for Proteus Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 cowden disease and klippel-trenaunay syndrome. 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 skin, liver and spinal cord, 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:64 Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf... more...

Description from OMIM:47 176920

GeneReviews summary for proteus

Aliases & Classifications for Proteus Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 47OMIM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

proteus syndrome 8 19 43 20 22 21 10 45 61
partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly 43
hemihypertrophy and macrocephaly 43
beckwith-wiedemann syndrome 61
wiedemann's syndrome 8
ps 21


External Ids:

Disease Ontology8 DOID:13482
NCIt40 C85032
MeSH35 D016715
SNOMED-CT57 394527003, 23150001
OMIM47 176920
ICD1025 B96.4

Related Diseases for Proteus Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Proteus Syndrome family:

proteus-like syndrome

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

(show top 50)    (show all 188)
idRelated DiseaseScoreTop Affiliating Genes
1cowden disease30.1LYPD1, PTEN, CDKN3
2klippel-trenaunay syndrome30.1PDCD10, AGGF1, GLMN
3teratoma29.9GPC3
4beckwith-wiedemann syndrome11.5
5macroglossia10.8
6wilms tumor10.8
7n syndrome10.6
8silver-russell syndrome10.6
9kid syndrome10.6
10omphalocele10.6
11pancreatoblastoma10.6
12proteus syndrome, somatic10.5
13adenoma10.5
14medullary sponge kidney10.5
15sotos syndrome10.4
16cleft palate10.4
17hyperinsulinism10.4
18acute leukemia10.4
19adrenal adenoma10.4
20adrenocortical carcinoma10.4
21prune belly syndrome10.4
22urethral syndrome10.4
23aniridia10.4
24bladder neck obstruction10.4
25alveolar rhabdomyosarcoma10.4
26hypoglycemia10.4
27pheochromocytoma10.4
28short syndrome10.4
29neural crest tumor10.4
30beckwith-wiedemann syndrome due to cdkn1c mutation10.4
31beckwith-wiedemann syndrome due to 11p15 microdeletion10.4
32beckwith-wiedemann syndrome due to 11p15 translocation/inversion10.4
33beckwith-wiedemann syndrome due to imprinting defect of 11p1510.4
34beckwith-wiedemann syndrome due to nsd1 mutation10.4
35renal dysplasia10.4
36beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1110.4
37beckwith-wiedemann syndrome due to 11p15 microduplication10.4
38scott syndrome10.3
39hemihypertrophy10.3
40char syndrome10.3
41hemimegalencephaly10.3
42encephalocraniocutaneous lipomatosis10.2
43hellp syndrome10.2
44megakaryocytic leukemia10.2
45wagr syndrome10.2
46renal wilms' tumor10.2
47chorioangioma10.2
48klinefelter's syndrome10.2
49sensorineural hearing loss10.2
50congenital hypothyroidism10.2

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



Diseases related to proteus syndrome

Clinical Features for Proteus Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

176920

Drugs & Therapeutics for Proteus Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Proteus Syndrome:

id Genetic test Affiliating Genes
1 Proteus Syndrome20 22 AKT1

Anatomical Context for Proteus Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Proteus Syndrome:

33
Skin, Liver, Spinal cord, Brain, Lung, Spleen, Colon, Breast

Animal Models for Proteus Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Proteus Syndrome

Sources:
51PubMed
See all sources

Articles related to Proteus Syndrome:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation. (24387135)
2014
2
Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel-Feil syndrome. (23760594)
2013
3
Proteus syndrome: Clinical profile of six patients and review of literature. (24019623)
2013
4
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome. (23436452)
2013
5
Proteus syndrome: A rare case report. (23716948)
2012
6
Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease. (21412980)
2011
7
Chronic rectal bleeding in Proteus syndrome. (21901955)
2010
8
Ictal SPECT with MRI fusion localizing a seizure focus in child with hemimegalencephaly and proteus syndrome. (20631524)
2010
9
Bladder hemangiomas and Proteus syndrome: a rare clinical association. (20044313)
2010
10
Isolated plantar collagenoma not associated with Proteus syndrome. (18280350)
2008
11
Mild and delayed-onset Proteus syndrome. (17337412)
2007
12
Proteus syndrome with huge tonsillar mass causing dysphagia: a rare case. (16556346)
2006
13
The challenges of Proteus syndrome: diagnosis and management. (16883308)
2006
14
Windblown foot: a particular presentation of Proteus syndrome? (16440890)
2005
15
Dentomaxillofacial imaging in Proteus syndrome. (15961602)
2005
16
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. (15372514)
2004
17
Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. (15372512)
2004
18
Proteus syndrome associated with liver involvement: case report. (12872817)
2003
19
Proteus syndrome: misdiagnosis with PTEN mutations. (14518070)
2003
20
Proteus syndrome. (14649692)
2003
21
Craniofacial and dental manifestations of Proteus syndrome: a case report. (11879083)
2002
22
Proteus syndrome: a natural clinical course of Proteus syndrome. (11971221)
2002
23
Symptomatic diffuse colonic lipomatosis in Proteus syndrome. (11454051)
2001
24
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. (11476841)
2001
25
Proteus syndrome: a case report. (11560226)
2001
26
PTEN mutations and proteus syndrome. (11755638)
2001
27
A mild form of Proteus syndrome. (9569327)
1998
28
The Proteus syndrome: CNS manifestations. (9613526)
1998
29
Pathology of lipomatous lesions in Proteus syndrome. (9688770)
1998
30
Proteus syndrome with widespread portwine stain naevus. (9990373)
1998
31
Proteus syndrome. (20944260)
1997
32
Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome. (8739411)
1996
33
Unusual distribution of enamel hypoplasia in an 11-year-old child with Proteus syndrome. (7547812)
1995
34
Late-onset isolated cystic hygroma. A first clinical sign of Proteus syndrome. (7740008)
1995
35
Proteus syndrome with renal involvement. (7754774)
1995
36
Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome? (8588580)
1995
37
Proteus syndrome. (7873827)
1994
38
Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome. (7516626)
1994
39
Histogenesis of vascular tumors in the Proteus syndrome. (8115889)
1994
40
Proteus syndrome and unilateral congenital windblown hand deformity. (8172243)
1994
41
Macrodactyly in Proteus syndrome. (8345255)
1993
42
Transmission of Proteus syndrome from mother to son? (8418646)
1993
43
Proteus syndrome with cardiomyopathy and a myocardial mass. (8484400)
1993
44
The Proteus syndrome. (7996501)
1993
45
Transmission of Proteus syndrome from father to son? (1770536)
1991
46
Eyelid tumors in the proteus syndrome. (2012164)
1991
47
Pelvic lipomatosis in the Proteus syndrome: a further diagnostic sign. (2226574)
1990
48
Proteus syndrome and neurofibromatosis. (2518518)
1989
49
Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis. (3234431)
1988
50
Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis. (3987735)
1985

Genetic Variations for Proteus Syndrome

Expression for genes affiliated with Proteus Syndrome

Sources:
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

Sources:
54Reactome, 38NCBI 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

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB, 29IUPHAR
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Compounds related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate45 1111.0AKT1, PTEN
2ptdins(3)p459.8AKT1, CDKN3
3calyculin a45 60 1111.7PTEN, CDKN3, AKT1
4phosphatidylinositol 3-phosphate459.7PTEN, CDKN3
5gefitinib45 50 1111.7PTEN, CDKN3, AKT1
6bicalutamide45 60 1111.7PTEN, CDKN3
7phosphatidylinositol-3,4,5-trisphosphate45 2410.6PTEN, CDKN3, AKT1
8inositol459.6PTEN, CDKN3, AKT1
9arsenite45 2410.5PTEN, CDKN3, AKT1
10cetuximab45 50 1111.4PTEN, CDKN3
11rapamycin459.2AKT1, GLMN, CDKN3, PTEN
125-hydroxytryptamine459.1CALB2, AKT1, CDKN3
13nmda45 299.8CALB2, AKT1, SYNGAP1, CDKN3
14estrogen458.5CALB2, AKT1, CDKN3, LEFTY2, PTEN
15testosterone45 60 11 2411.5CALB2, AKT1, CDKN3, PTEN

GO Terms for genes affiliated with Proteus Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proteus Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet