PROTEUSS
MCID: PRT093
MIFTS: 56

Proteus Syndrome, Somatic (PROTEUSS) malady

Categories: Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Proteus Syndrome, Somatic

Aliases & Descriptions for Proteus Syndrome, Somatic:

Name: Proteus Syndrome, Somatic 54 13
Proteus Syndrome 54 12 23 50 24 25 56 66 29 52 42 14 69
Ps 25 3
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 66
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 50
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome 56
Hemihypertrophy and Macrocephaly 50
Wiedemann's Syndrome 12
Proteuss 66

Characteristics:

Orphanet epidemiological data:

56
proteus syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age;

GeneReviews:

23
proteus syndrome, somatic:
Inheritance somatic mutation sporadic
Onset and clinical course infantile onset progressive


GeneReviews:

23
Penetrance Incomplete penetrance cannot be assessed in a mosaic genetic disorder that is not inherited...

Classifications:



External Ids:

OMIM 54 176920
Disease Ontology 12 DOID:13482
MeSH 42 D016715
NCIt 47 C85032
SNOMED-CT 64 23150001 394527003
Orphanet 56 ORPHA744
ICD10 via Orphanet 34 Q87.3
MESH via Orphanet 43 D016715
UMLS via Orphanet 70 C0085261
ICD10 33 B96.4
UMLS 69 C0085261

Summaries for Proteus Syndrome, Somatic

NIH Rare Diseases : 50 proteus syndrome is characterized by excessive growth of a part or portion 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 disorder. overgrowth becomes apparent between the ages of 6 and 18 months and becomes more severe with age. it may result in differences in appearance and with time, an increased risk for blood clots and tumors. some people with proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss, as well as distinctive facial features. proteus syndrome 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: 2/23/2017

MalaCards based summary : Proteus Syndrome, Somatic, also known as proteus syndrome, is related to pten-related proteus syndrome and hemimegalencephaly, and has symptoms including cachexia, seizures and joint stiffness. An important gene associated with Proteus Syndrome, Somatic is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways/superpathways are IL-2 Pathway and GAB1 signalosome. Affiliated tissues include skin, lung and bone, and related phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and cardiovascular system

Genetics Home Reference : 25 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.

OMIM : 54 Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts,... (176920) more...

CDC : 3 Learn more about travel and blood clots

UniProtKB/Swiss-Prot : 66 Proteus syndrome: A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes.

Wikipedia : 71 Proteus syndrome is a rare disorder that has genetic background that can cause tissue overgrowth... more...

GeneReviews: NBK99495

Related Diseases for Proteus Syndrome, Somatic

Diseases related to Proteus Syndrome, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
id Related Disease Score Top Affiliating Genes
1 pten-related proteus syndrome 11.8
2 hemimegalencephaly 11.1
3 cowden disease 11.1
4 macrocephaly mesodermal hamartoma spectrum 11.0
5 scott syndrome 11.0
6 pten hamartoma tumor syndrome 10.9
7 proteus-like syndrome 10.9
8 perlman syndrome 10.8
9 polydactyly, preaxial type ii 10.8
10 pfeiffer syndrome 10.8
11 hemihyperplasia, isolated 10.8
12 clove syndrome, somatic 10.8
13 uterine corpus choriocarcinoma 10.2 PIK3CA PTEN
14 spermatogenic failure 6 10.2 AKT3 PIK3CA
15 cholangiocarcinoma, susceptibility to 10.2 AKT3 IGF2
16 glioma susceptibility 2 10.2 PIK3CA PTEN
17 pierre robin syndrome and oligodactyly 10.1 CDKN3 PTEN
18 multiple mitochondrial dysfunctions syndrome 1 10.1 PTEN TSC2
19 hemorrhagic fever 10.1 IGF2 PTEN
20 malignant pleural solitary fibrous tumor 10.1 AKT1 AKT3 PTEN
21 macrocephaly/autism syndrome 10.1 CDKN3 PTEN
22 hemorrhagic proctocolitis 10.1 AKT3 PIK3CA
23 neurological consequences of cytomegalovirus infection 10.1 AKT3 PIK3CA PTEN
24 adult astrocytic tumour 10.0 AKT1 AKT3 PTEN
25 lipomatosis 10.0
26 grade iii astrocytoma 10.0 AKT1 PTEN TSC2
27 proctitis 10.0 AKT1 IGF2 PIK3CA PTEN
28 adult syndrome 10.0 PIK3CA PTEN
29 trachea squamous cell carcinoma 10.0 AKT1 AKT3 PIK3CA PTEN
30 glucose-6-phosphate translocase deficiency 9.9 AKT1 AKT3 PIK3CA PTEN
31 scoliosis 9.9
32 ovarian brenner tumor 9.9 AKT1 PTEN TSC2
33 hemihypertrophy 9.8
34 bernard-soulier syndrome, type c 9.8 AKT1 PIK3CA PTEN TSC2
35 encephalocraniocutaneous lipomatosis 9.8
36 leishmaniasis 9.8
37 mucocutaneous leishmaniasis 9.8
38 nail disorder, nonsyndromic congenital, 10, 9.8 AGGF1 GLMN RASA1
39 weyers ulnar ray/oligodactyly syndrome 9.7 AGGF1 GLMN RASA1
40 cardiomyopathy, dilated, 1h 9.7 AKT1 CDKN3 IGF2 PIK3CA PTEN
41 childhood teratocarcinoma of the testis 9.7 AKT1 CDKN3 PIK3CA PTEN TSC2
42 gingivitis 9.7
43 pelvic lipomatosis 9.7
44 lipoma 9.7
45 gigantism 9.7
46 hyperostosis 9.7
47 hemangioma 9.7
48 precocious puberty 9.7
49 hydrocephalus 9.7
50 neurofibromatosis 9.7

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



Diseases related to Proteus Syndrome, Somatic

Symptoms & Phenotypes for Proteus Syndrome, Somatic

Symptoms by clinical synopsis from OMIM:

176920

Clinical features from OMIM:

176920

Human phenotypes related to Proteus Syndrome, Somatic:

56 32 (show top 50) (show all 121)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 joint stiffness 56 32 Occasional (29-5%) HP:0001387
4 macrocephaly 56 32 Occasional (29-5%) HP:0000256
5 hypertelorism 56 32 Frequent (79-30%) HP:0000316
6 low-set ears 56 32 Occasional (29-5%) HP:0000369
7 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
8 ptosis 56 32 Occasional (29-5%) HP:0000508
9 intellectual disability 56 32 Occasional (29-5%) HP:0001249
10 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
11 scoliosis 56 32 Very frequent (99-80%) HP:0002650
12 kyphosis 56 32 Very frequent (99-80%) HP:0002808
13 macrotia 56 32 Frequent (79-30%) HP:0000400
14 cataract 56 32 Occasional (29-5%) HP:0000518
15 splenomegaly 56 32 Occasional (29-5%) HP:0001744
16 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
17 depressed nasal bridge 56 32 Occasional (29-5%) HP:0005280
18 macroorchidism 56 32 Occasional (29-5%) HP:0000053
19 carious teeth 56 32 Occasional (29-5%) HP:0000670
20 vascular skin abnormality 56 32 Very frequent (99-80%) HP:0011276
21 anteverted nares 56 32 Occasional (29-5%) HP:0000463
22 abnormality of retinal pigmentation 56 32 Occasional (29-5%) HP:0007703
23 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
24 decreased muscle mass 56 32 Very frequent (99-80%) HP:0003199
25 abnormality of the nail 56 32 Occasional (29-5%) HP:0001597
26 generalized hyperkeratosis 56 32 Frequent (79-30%) HP:0005595
27 exostoses 56 32 Occasional (29-5%) HP:0100777
28 pulmonary embolism 56 32 Frequent (79-30%) HP:0002204
29 thick nasal alae 56 32 Occasional (29-5%) HP:0009928
30 strabismus 56 32 Occasional (29-5%) HP:0000486
31 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
32 dolichocephaly 56 32 Frequent (79-30%) HP:0000268
33 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
34 lymphedema 56 32 Frequent (79-30%) HP:0001004
35 arteriovenous malformation 56 32 Very frequent (99-80%) HP:0100026
36 melanocytic nevus 56 32 Very frequent (99-80%) HP:0000995
37 hip dislocation 56 32 Occasional (29-5%) HP:0002827
38 myopia 56 32 Occasional (29-5%) HP:0000545
39 chorioretinal coloboma 56 32 Occasional (29-5%) HP:0000567
40 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
41 diabetes insipidus 56 32 Occasional (29-5%) HP:0000873
42 abnormality of the metacarpal bones 56 32 Occasional (29-5%) HP:0001163
43 capillary hemangiomas 56 32 Very frequent (99-80%) HP:0005306
44 visceral angiomatosis 56 32 Frequent (79-30%) HP:0100761
45 disproportionate tall stature 56 32 Very frequent (99-80%) HP:0001519
46 downslanted palpebral fissures 56 32 Occasional (29-5%) HP:0000494
47 multiple cafe-au-lait spots 56 32 Frequent (79-30%) HP:0007565
48 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
49 round face 56 32 Frequent (79-30%) HP:0000311
50 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682

GenomeRNAi Phenotypes related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.8 CDKN3 IGF2 PTEN

MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 AGGF1 AKT1 AKT3 GLMN IGF2 PIK3CA
2 cellular MP:0005384 10.09 AGGF1 AKT1 AKT3 GLMN IGF2 PIK3CA
3 behavior/neurological MP:0005386 10.02 AGGF1 AKT1 AKT3 IGF2 PIK3CA PTEN
4 embryo MP:0005380 10.01 AGGF1 AKT1 GLMN IGF2 PIK3CA PTEN
5 growth/size/body region MP:0005378 9.92 RASA1 TSC2 AKT1 AKT3 GLMN IGF2
6 mortality/aging MP:0010768 9.91 PTEN RASA1 TSC2 AGGF1 AKT1 AKT3
7 endocrine/exocrine gland MP:0005379 9.85 AKT1 AKT3 IGF2 PIK3CA PTEN TSC2
8 neoplasm MP:0002006 9.63 AGGF1 AKT1 AKT3 PIK3CA PTEN TSC2
9 nervous system MP:0003631 9.61 AKT1 AKT3 GLMN IGF2 PIK3CA PTEN
10 reproductive system MP:0005389 9.1 AKT1 AKT3 IGF2 PIK3CA PTEN TSC2

Drugs & Therapeutics for Proteus Syndrome, Somatic

Interventional clinical trials:


id Name Status NCT ID Phase
1 Participation and Detection Rate Diagnostic of a Colorectal Cancer Screening Program: CT Colonography vs. Flexible Sigmoidoscopy Unknown status NCT01739608 Phase 4
2 Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular Anomalies Recruiting NCT03094832 Phase 1, Phase 2
3 Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome Enrolling by invitation NCT02594215 Phase 1
4 Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants Completed NCT01369953
5 Study of Proteus Syndrome and Related Congenital Disorders Recruiting NCT00001403
6 Feasibility of an Ingestible Sensor System to Measure PrEP Adherence in YMSM Not yet recruiting NCT02891720

Search NIH Clinical Center for Proteus Syndrome, Somatic

Cochrane evidence based reviews: proteus syndrome

Genetic Tests for Proteus Syndrome, Somatic

Genetic tests related to Proteus Syndrome, Somatic:

id Genetic test Affiliating Genes
1 Proteus Syndrome 29 24 AKT1

Anatomical Context for Proteus Syndrome, Somatic

MalaCards organs/tissues related to Proteus Syndrome, Somatic:

39
Skin, Lung, Bone, Thymus, Ovary, Spinal Cord, Cortex

Publications for Proteus Syndrome, Somatic

Variations for Proteus Syndrome, Somatic

UniProtKB/Swiss-Prot genetic disease variations for Proteus Syndrome, Somatic:

66
id Symbol AA change Variation ID SNP ID
1 AKT1 p.Glu17Lys VAR_055422 rs121434592

ClinVar genetic disease variations for Proteus Syndrome, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551

Expression for Proteus Syndrome, Somatic

Search GEO for disease gene expression data for Proteus Syndrome, Somatic.

Pathways for Proteus Syndrome, Somatic

Pathways related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:

(show top 50) (show all 118)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 AKT1 AKT3 IGF2 PTEN RASA1
2
Show member pathways
13.06 AKT1 AKT3 PIK3CA PTEN TSC2
3
Show member pathways
12.97 AKT1 AKT3 PIK3CA PTEN TSC2
4
Show member pathways
12.86 AKT1 AKT3 PIK3CA PTEN
5
Show member pathways
12.85 AKT1 AKT3 PIK3CA PTEN
6
Show member pathways
12.85 AKT1 AKT3 PIK3CA PTEN TSC2
7
Show member pathways
12.77 AKT1 AKT3 IGF2 PIK3CA
8
Show member pathways
12.76 AKT1 AKT3 IGF2 PIK3CA PTEN RASA1
9
Show member pathways
12.75 AKT1 AKT3 PIK3CA PTEN
10
Show member pathways
12.75 AKT1 AKT3 PIK3CA PTEN TSC2
11
Show member pathways
12.75 AKT1 AKT3 PIK3CA PTEN RASA1
12
Show member pathways
12.69 AKT1 AKT3 PIK3CA RASA1
13
Show member pathways
12.68 AKT1 AKT3 PIK3CA PTEN TSC2
14 12.63 AKT1 AKT3 PIK3CA PTEN
15
Show member pathways
12.56 AKT1 AKT3 PIK3CA RASA1
16
Show member pathways
12.54 AKT1 AKT3 PIK3CA RASA1
17 12.54 AKT1 AKT3 PIK3CA PTEN TSC2
18
Show member pathways
12.53 AKT1 AKT3 PIK3CA PTEN RASA1
19
Show member pathways
12.52 AKT1 AKT3 PIK3CA RASA1
20
Show member pathways
12.49 AKT1 PIK3CA PTEN TSC2
21 12.47 AKT1 AKT3 PTEN TSC2
22
Show member pathways
12.45 AKT1 AKT3 PIK3CA PTEN
23
Show member pathways
12.42 AKT1 AKT3 PIK3CA PTEN TSC2
24
Show member pathways
12.41 AKT1 AKT3 PIK3CA RASA1
25
Show member pathways
12.41 AKT1 AKT3 PIK3CA TSC2
26
Show member pathways
12.38 AKT1 AKT3 PIK3CA RASA1
27
Show member pathways
12.37 AKT1 AKT3 PIK3CA TSC2
28
Show member pathways
12.31 AKT1 AKT3 PIK3CA
29
Show member pathways
12.3 AKT1 AKT3 PIK3CA PTEN
30
Show member pathways
12.29 AKT1 AKT3 PIK3CA
31
Show member pathways
12.29 AKT1 AKT3 PIK3CA
32
Show member pathways
12.28 AKT1 AKT3 TSC2
33
Show member pathways
12.28 AKT1 AKT3 PIK3CA
34
Show member pathways
12.28 AKT1 AKT3 PIK3CA PTEN RASA1
35 12.27 AKT1 AKT3 PIK3CA
36 12.27 AKT1 AKT3 IGF2 PIK3CA
37
Show member pathways
12.26 AKT1 AKT3 PIK3CA
38
Show member pathways
12.26 AKT1 AKT3 PIK3CA
39
Show member pathways
12.25 AKT1 AKT3 PIK3CA PTEN TSC2
40
Show member pathways
12.23 AKT1 AKT3 PTEN
41
Show member pathways
12.2 AKT1 AKT3 PTEN
42
Show member pathways
12.18 AKT1 AKT3 PIK3CA
43
Show member pathways
12.18 AKT1 AKT3 PIK3CA
44
Show member pathways
12.18 AKT1 AKT3 TSC2
45
Show member pathways
12.17 AKT1 AKT3 PIK3CA RASA1
46 12.15 AKT1 PTEN RASA1
47
Show member pathways
12.15 AKT1 AKT3 PTEN TSC2
48
Show member pathways
12.14 AKT1 PIK3CA PTEN
49
Show member pathways
12.14 AKT1 AKT3 PIK3CA
50 12.12 AKT1 PTEN TSC2

GO Terms for Proteus Syndrome, Somatic

Biological processes related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.75 AGGF1 PIK3CA PTEN
2 phosphatidylinositol-mediated signaling GO:0048015 9.63 AKT1 PIK3CA PTEN
3 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.58 CDKN3 PTEN
4 cellular response to nerve growth factor stimulus GO:1990090 9.57 AKT1 PTEN
5 endothelial cell migration GO:0043542 9.56 PIK3CA PTEN
6 positive regulation of TOR signaling GO:0032008 9.55 AKT3 PIK3CA
7 regulation of neuron projection development GO:0010975 9.54 AKT1 PTEN
8 glucose metabolic process GO:0006006 9.54 AKT1 IGF2 PIK3CA
9 brain morphogenesis GO:0048854 9.52 AKT3 PTEN
10 positive regulation of glycogen biosynthetic process GO:0045725 9.51 AKT1 IGF2
11 vasculogenesis GO:0001570 9.5 AGGF1 GLMN RASA1
12 insulin-like growth factor receptor signaling pathway GO:0048009 9.49 AKT1 TSC2
13 negative regulation of macroautophagy GO:0016242 9.48 AKT1 PIK3CA
14 negative regulation of cell size GO:0045792 9.43 AKT1 PTEN
15 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 PTEN TSC2
16 cellular response to decreased oxygen levels GO:0036294 9.26 AKT1 PTEN
17 insulin receptor signaling pathway via phosphatidylinositol 3-kinase GO:0038028 9.16 IGF2 PIK3CA
18 anoikis GO:0043276 9.13 AKT1 PIK3CA TSC2
19 protein kinase B signaling GO:0043491 8.92 AKT1 PIK3CA PTEN TSC2

Molecular functions related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 AGGF1 AKT1 AKT3 CDKN3 GLMN IGF2

Sources for Proteus Syndrome, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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