PS
MCID: PRT008
MIFTS: 61

Proteus Syndrome (PS) malady

Genetic diseases, Rare diseases, Infectious diseases categories
Download this MalaCard

Summaries for Proteus Syndrome

About this section


Fully expand this MalaCard
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 based summary: Proteus Syndrome, also known as partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly, is related to hemihypertrophy 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 Endochondral Ossification and Small cell lung cancer. 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 digestive/alimentary and respiratory system.

CDC:3 DVT/PE are often underdiagnosed and serious, but preventable medical conditions. It is important to know about DVT because it can happen to anybody at any age and can cause serious illness, disability, and in some cases, death. The good news is that DVT is preventable and treatable if discovered early.

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:65 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

About this section

Proteus Syndrome, Aliases & Descriptions:

Name: Proteus Syndrome 8 19 42 20 22 21 10 44 62
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 42
Hemihypertrophy and Macrocephaly 42
 
Beckwith-Wiedemann Syndrome 62
Wiedemann's Syndrome 8
Ps 21


Classifications:



External Ids:

Disease Ontology8 DOID:13482
MeSH34 D016715
OMIM46 176920
SNOMED-CT57 23150001, 394527003
NCIt39 C85032
ICD1025 B96.4

Related Diseases for Proteus Syndrome

About this section

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 116)
idRelated DiseaseScoreTop Affiliating Genes
1hemihypertrophy31.1CDKN1C
2cowden disease30.7PTEN, CDKN3
3lipomatosis10.5
4cowden syndrome 110.5PTEN
5bannayan-riley-ruvalcaba syndrome10.5PTEN
6leopard syndrome10.4CDKN3
7proteus syndrome, somatic10.4
8adenofibroma10.4CALB2
9alzheimer's disease10.4
10scott syndrome10.4
11hemimegalencephaly10.3
12cerebral cavernous malformation10.3CDKN3, PTEN
13peutz-jeghers syndrome10.3CDKN3, PTEN
14encephalocraniocutaneous lipomatosis10.2
15nail-patella syndrome10.2
16macrocephaly mesodermal hamartoma spectrum10.2
17endometrial carcinoma10.2CALB2, PTEN
18tuberous sclerosis10.2PTEN, CDKN3, AKT1
19hemangioma10.2
20hydrocephalus10.2
21neurofibromatosis10.2
22gingivitis10.2
23hyperostosis10.2
24lipoma10.2
25meningioma10.2
26gigantism10.2
27precocious puberty10.2
28mental retardation10.2
29pten-related proteus syndrome10.2
30thromboembolism10.2
31thyroid hurthle cell carcinoma10.2CDKN3, AKT1, PTEN
32neurilemmoma10.1CALB2, AKT1
33renal clear cell carcinoma10.1PTEN, CALB2
34thymoma10.1AKT1, CALB2
35prostate cancer10.1CDKN3, PTEN, AKT1
36adrenocortical carcinoma10.1CDKN1C, CALB2
37adrenal cortical adenoma10.1CALB2, CDKN1C
38retinoblastoma10.0AKT1, CDKN3, CDKN1C
39craniosynostosis10.0
40renal tubular acidosis10.0
41sacrococcygeal teratoma10.0
42spinal meningioma10.0
43giant hemangioma10.0
44diabetes insipidus10.0
45carpal tunnel syndrome10.0
46arachnoiditis10.0
47distal arthrogryposis10.0
48nephrogenic diabetes insipidus10.0
49ohtahara syndrome10.0
50ductal carcinoma in situ10.0

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



Diseases related to proteus syndrome

Symptoms for Proteus Syndrome

About this section


Clinical features from OMIM:

176920

Drugs & Therapeutics for Proteus Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Proteus Syndrome

Search NIH Clinical Center for Proteus Syndrome

Genetic Tests for Proteus Syndrome

About this section

Genetic tests related to Proteus Syndrome:

id Genetic test Affiliating Genes
1 Proteus Syndrome20 22 AKT1

Anatomical Context for Proteus Syndrome

About this section

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

About this section

MGI Mouse Phenotypes related to Proteus Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7LEFTY2, GPC3, PTEN, CDKN1C
2MP:00053888.5PTEN, AKT1, CDKN1C, LEFTY2, GPC3
3MP:00053808.4GPC3, CDKN1C, LEFTY2, PTEN, AKT1
4MP:00053908.4AKT1, PTEN, GPC3, CDKN1C
5MP:00053858.4LEFTY2, CDKN1C, AKT1, PTEN, GPC3
6MP:00053978.4AKT1, PTEN, LEFTY2, GPC3, CDKN1C
7MP:00053878.3GPC3, LEFTY2, PTEN, AKT1, CDKN1C
8MP:00036318.3PTEN, AKT1, CALB2, CDKN1C, LEFTY2
9MP:00053788.3CDKN1C, GPC3, LEFTY2, PTEN, AKT1

Publications for Proteus Syndrome

About this section

Articles related to Proteus Syndrome:

(show top 50)    (show all 262)
idTitleAuthorsYear
1
Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation. (24387135)
2014
2
Myocardial fat overgrowth in Proteus syndrome. (25377688)
2014
3
AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome. (23884311)
2014
4
Operative management of splenic injury in a patient with proteus syndrome. (25114436)
2014
5
Concurrent splenic lymphangiomatosis and Proteus syndrome. (24043010)
2013
6
Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma. (23559393)
2013
7
Proteus syndrome: a case report with bone scintigraphy findings. (23337098)
2013
8
Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel-Feil syndrome. (23760594)
2013
9
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
10
Cerebriform plantar hyperplasia: the clinico-pathological hallmark of Proteus syndrome. (21681363)
2011
11
Assessment and management of the orthopedic and other complications of Proteus syndrome. (23024722)
2011
12
An unusual initial presentation of Proteus syndrome: macrosyndactyly. (21417989)
2011
13
Chronic rectal bleeding in Proteus syndrome. (21901955)
2010
14
Pulmonary manifestations and management of proteus syndrome. (20497874)
2010
15
Management of craniofacial hyperostosis in Proteus syndrome. (20216456)
2010
16
Endovascular treatment of disseminated complex aortic vascular malformations in a patient with proteus syndrome. (20971228)
2010
17
Unilateral ovarian dermoid cyst accompanied by an ipsilateral paratubal cyst in a girl with Proteus Syndrome discovered by laparoscopic surgery. (19833537)
2010
18
Proteus syndrome: report of a case with recurrent abdominal lipomatosis. (19361616)
2009
19
Monozygotic twins discordant for Proteus syndrome. (18627057)
2008
20
Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. (17702022)
2007
21
A mild form of Proteus syndrome. (18035995)
2007
22
Proteus syndrome with agenesis of the rectus abdominis. (17034561)
2006
23
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. (16704655)
2006
24
Windblown foot: a particular presentation of Proteus syndrome? (16440890)
2005
25
Recalcitrant scoliosis in Proteus syndrome. (16035717)
2005
26
Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome. (16462730)
2005
27
Ossicular discontinuity and exostoses in Proteus syndrome: a case report. (15825577)
2005
28
Radiologic manifestations of Proteus syndrome. (15256628)
2004
29
Proteus syndrome associated with liver involvement: case report. (12872817)
2003
30
Proteus syndrome and somatic mosaicism of the chromosome 16. (15206168)
2003
31
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. (12471211)
2002
32
A muscular lesion suggestive of focal myositis in a child with Proteus syndrome. (12439276)
2002
33
Proteus syndrome. (12027091)
2002
34
Proteus syndrome. (11586023)
2001
35
Symptomatic diffuse colonic lipomatosis in Proteus syndrome. (11454051)
2001
36
Proteus syndrome: diagnosis in adulthood. (9764165)
1998
37
Non-operative management of a splenic laceration in a patient with the Proteus syndrome. (9132186)
1997
38
Proteus syndrome: new findings in seven patients. (9050755)
1997
39
Neoplasms in Proteus syndrome. (7645604)
1995
40
Unusual distribution of enamel hypoplasia in an 11-year-old child with Proteus syndrome. (7547812)
1995
41
Proteus syndrome. (7873827)
1994
42
Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome. (7516626)
1994
43
Proteus syndrome: clinical evidence for somatic mosaicism and selective review. (8266991)
1993
44
Transmission of Proteus syndrome from father to son? (1770536)
1991
45
Prenatal sonographic findings in a fetus with Proteus syndrome. (1847725)
1991
46
Proteus syndrome (report of three cases). (2357192)
1990
47
Proteus syndrome and neurofibromatosis. (2518518)
1989
48
Proteus syndrome. (2616392)
1989
49
Proteus syndrome. (2667470)
1989
50
Proteus syndrome: an expanded phenotype. (3605210)
1987

Variations for Proteus Syndrome

About this section

Clinvar genetic disease variations for Proteus Syndrome:

6
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

About this section
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

About this section

Pathways related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CDKN1C, AKT1
29.7PTEN, AKT1
39.7AKT1, PTEN
4
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.7AKT1, PTEN
59.7AKT1, PTEN
6
Show member pathways
9.7AKT1, PTEN
79.7PTEN, AKT1
89.7AKT1, PTEN
99.7PTEN, AKT1
10
Show member pathways
TCR signaling in naive CD8+ T cells37
9.7AKT1, PTEN
11
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.1AKT1, PTEN, GPC3

Compounds for genes affiliated with Proteus Syndrome

About this section

Compounds related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate44 1111.1AKT1, PTEN
2indole-3-carbinol4410.0AKT1, PTEN
3ptdins(3)p449.7AKT1, CDKN3
4tetracycline44 1110.7CDKN1C, AKT1
5hematoxylin449.7CALB2, PTEN
6phosphatidylinositol 3-phosphate449.6PTEN, CDKN3
7cetuximab44 50 1111.6PTEN, CDKN3
8bicalutamide44 61 1111.6CDKN3, PTEN
9paclitaxel44 50 1111.6AKT1, PTEN, CALB2
10gsno449.5CDKN3, PTEN
11erlotinib44 50 1111.5CDKN3, PTEN
12diphenyleneiodonium449.5AKT1, CDKN3
135-aza-2deoxycytidine449.5CDKN1C, GPC3, PTEN
14paraffin449.4AKT1, CALB2, PTEN
15trastuzumab44 50 1111.4CDKN3, PTEN
16c2ceramide449.4CDKN3, AKT1
17calyculin a44 61 1111.3CDKN3, AKT1, PTEN
18gefitinib44 50 1111.3CDKN3, PTEN, AKT1
19phosphatidylinositol-3,4,5-trisphosphate44 2410.3CDKN3, AKT1, PTEN
20inositol449.3CDKN3, PTEN, AKT1
21arsenite44 2410.3AKT1, CDKN3, PTEN
22etoposide44 50 61 1112.3CDKN3, AKT1, PTEN
23rapamycin449.2AKT1, PTEN, CDKN3
24ly294002449.2PTEN, AKT1, CDKN3
25wortmannin449.2CDKN3, PTEN, AKT1
265-hydroxytryptamine449.2CALB2, AKT1, CDKN3
27glycogen44 2410.2CDKN3, PTEN, AKT1
28phosphoinositide449.2PTEN, CDKN3, AKT1
29butyrate449.2CDKN3, CALB2, AKT1
30nmda44 2810.1AKT1, CALB2, CDKN3
31acetylcholine44 50 28 24 1113.1CDKN3, CALB2, AKT1
32genistein44 28 61 2 24 1114.1CDKN3, AKT1, PTEN
33cisplatin44 50 61 1112.0CDKN3, PTEN, AKT1
34cycloheximide448.9PTEN, AKT1, CDKN3, CDKN1C
35aspartate448.9CDKN3, PTEN, AKT1
36h2o2448.9CDKN3, AKT1, PTEN
37progesterone44 28 61 24 1112.8CALB2, PTEN, LEFTY2
38testosterone44 61 24 1111.8PTEN, AKT1, CDKN3, CALB2
39estrogen448.3PTEN, LEFTY2, AKT1, CDKN3, CALB2

GO Terms for genes affiliated with Proteus Syndrome

About this section

Cellular components related to Proteus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.5AGGF1, CDKN1C, CDKN3, CALB2, AKT1, PTEN

Biological processes related to Proteus Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:0457929.9PTEN, AKT1
2regulation of neuron projection developmentGO:0109759.9PTEN, AKT1
3protein kinase B signalingGO:0434919.8AKT1, PTEN
4positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.7AKT1, PTEN
5positive regulation of glucose importGO:0463269.6GPC3, AKT1
6positive regulation of endothelial cell proliferationGO:0019389.3AKT1, AGGF1
7negative regulation of epithelial cell proliferationGO:0506809.3GPC3, PTEN, CDKN1C
8peptidyl-tyrosine dephosphorylationGO:0353359.1PTEN, CDKN3
9regulation of cyclin-dependent protein serine/threonine kinase activityGO:0000799.1CDKN1C, CDKN3, PTEN
10negative regulation of cell proliferationGO:0082858.9PTEN, CDKN3, CDKN1C

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Proteus Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet