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 lung, 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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46OMIM
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Clinical features from OMIM:

176920

Drugs & Therapeutics for Proteus Syndrome

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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, Lung, Colon, Liver, Brain, Eye, Spleen, 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
Concurrent splenic lymphangiomatosis and Proteus syndrome. (24043010)
2013
2
Distal renal tubular acidosis in a boy with Proteus syndrome. (23728016)
2013
3
Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome. (22241876)
2013
4
Fibrous tumor of the superior oblique tendon in Proteus syndrome. (23896365)
2013
5
Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome. (22035467)
2012
6
Coarctation of aorta in a child with proteus syndrome. (22382513)
2012
7
Assessment and management of the orthopedic and other complications of Proteus syndrome. (23024722)
2011
8
Endovascular treatment of disseminated complex aortic vascular malformations in a patient with proteus syndrome. (20971228)
2010
9
980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome. (19627404)
2010
10
A case of disproportionate macrodactyly or a mild form of Proteus syndrome? An interesting case. (21400985)
2010
11
Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome. (18377602)
2008
12
Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. (18082431)
2008
13
Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. (17702022)
2007
14
A case of Proteus syndrome with lateral embryonal vein and frontal intraosseous lipoma. (17760489)
2007
15
Is it a Proteus syndrome? (17762684)
2007
16
Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. (17569038)
2007
17
A female with hemihypertrophy and chylous ascites - Klippel-Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma. (16957479)
2006
18
A case of Proteus syndrome (elephant man). (16898038)
2006
19
Surgical treatment of an unusual patient with Proteus syndrome. (16432429)
2006
20
Evolution of skin lesions in Proteus syndrome. (15858474)
2005
21
Proteus syndrome with giant myelolipoma in the pelvis. (16351661)
2005
22
Vascular anomalies in Proteus syndrome. (15115498)
2004
23
Craniofacial hyperostoses in Proteus syndrome -- a case report. (15555524)
2004
24
Proteus syndrome and somatic mosaicism of the chromosome 16. (15206168)
2003
25
Clinical quiz. D Proteus syndrome. (12862023)
2003
26
Proteus syndrome. (14524037)
2003
27
A muscular lesion suggestive of focal myositis in a child with Proteus syndrome. (12439276)
2002
28
Proteus syndrome and immunodeficiency. (10685928)
2000
29
Anaesthesia for Proteus syndrome. (11050524)
2000
30
Sudden death caused by pulmonary thromboembolism in Proteus syndrome. (11140839)
2000
31
Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome. (10213042)
1999
32
Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy. (9474620)
1998
33
Median nerve compression in Proteus syndrome. (9639645)
1998
34
Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. (9006375)
1997
35
Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome? (8958321)
1996
36
Proteus syndrome: association with gingival hyperplasia. (7500296)
1995
37
Two-year-old boy with Proteus syndrome and fatal pulmonary thromboembolism. (7808975)
1994
38
Myopathy of the Proteus syndrome: hypothesis of muscular dysgenesis. (8268726)
1993
39
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. (8266992)
1993
40
Proteus Syndrome (22876373)
1993
41
Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome. (1328340)
1992
42
Craniofacial characteristics of Proteus syndrome: two modes of abnormal growth. (2057486)
1991
43
Proteus syndrome (report of three cases). (2357192)
1990
44
Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings. (2729359)
1989
45
Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever. (3152479)
1988
46
Cutaneous manifestations of the Proteus syndrome. (3380758)
1988
47
Proteus syndrome: ocular complications. (3282059)
1988
48
Severe proteus syndrome in an 18-month-old boy. (3605190)
1987
49
The Proteus syndrome: the magnetic resonance and radiological features. (3684362)
1987
50
Proteus syndrome: report of two cases with pelvic lipomatosis. (4069870)
1985

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