PROTEUSS
MCID: PRT008
MIFTS: 69

Proteus Syndrome (PROTEUSS)

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

Aliases & Classifications for Proteus Syndrome

MalaCards integrated aliases for Proteus Syndrome:

Name: Proteus Syndrome 57 12 76 24 53 25 59 75 37 29 55 6 44 15 73
Proteus Syndrome, Somatic 57 13
Ps 25 3
Gigantism, Partial, of Hands and Feet, Nevi, Hemihypertrophy, and Macrocephaly 57
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 75
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 53
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome 59
Hemihypertrophy and Macrocephaly 53
Syndrome, Proteus, Somatic 40
Wiedemann's Syndrome 12
Proteuss 75

Characteristics:

Orphanet epidemiological data:

59
proteus syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age;

OMIM:

57
Inheritance:
somatic mutation

Miscellaneous:
onset in infancy
progressive disorder
sporadic occurrence
mosaic distribution of lesions


HPO:

32
proteus syndrome:
Inheritance somatic mutation sporadic
Onset and clinical course infantile onset progressive


GeneReviews:

24
Penetrance Incomplete penetrance cannot be assessed in a mosaic genetic disorder that is not inherited...

Classifications:



Summaries for Proteus Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Proteus Syndrome, also known as proteus syndrome, somatic, is related to hemimegalencephaly and cowden syndrome 1. An important gene associated with Proteus Syndrome is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and mTOR signaling pathway. Affiliated tissues include skin, bone and lung, and related phenotypes are macrocephaly and hypertelorism

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 : 57 Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Specific features include cerebriform connective tissue nevus, thin limbs, lipomas, and lung cysts. Some patients may have intellectual disability with dysmorphic facies. Deep venous thrombosis is common and constitutes a significant risk factor. Many features of Proteus syndrome overlap with other overgrowth syndromes (Turner et al., 2004; review by Cohen, 2014). Cohen (2014) provided a detailed review of the clinical features, diagnosis, and management issues of Proteus syndrome. Some authors (52,51:Zhou et al., 2000, 2001; Smith et al., 2002) have reported a 'Proteus-like' syndrome associated with germline and tissue-specific somatic mutations in the PTEN gene (601728), which is mutated in Cowden syndrome (CWS1); see 158350 for a discussion of these patients. (176920)

UniProtKB/Swiss-Prot : 75 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 : 76 Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving... more...

GeneReviews: NBK99495

Related Diseases for Proteus Syndrome

Diseases in the Proteus Syndrome family:

Proteus-Like Syndrome

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

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 hemimegalencephaly 32.1 AKT3 PIK3CA
2 cowden syndrome 1 31.7 PTEN CDKN3 AKT1
3 cowden disease 31.7 PTEN PIK3CA CDKN3 AKT1
4 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.0 RASA1 PIK3R2 PIK3CA IGF2 AKT1
5 hydrocephalus 29.8 AKT3 PIK3R2 PTEN
6 klippel-trenaunay-weber syndrome 29.7 AGGF1 RASA1
7 pfeiffer syndrome 11.7
8 proteus-like syndrome 11.2
9 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.2
10 scott syndrome 11.2
11 polydactyly, preaxial ii 11.1
12 hemihyperplasia, isolated 11.0
13 crouzon syndrome 11.0
14 perlman syndrome 11.0
15 central nervous system disease 11.0
16 foxp2-related speech and language disorders 11.0
17 frasier syndrome 10.3
18 lipomatosis 10.3
19 pharynx squamous cell carcinoma 10.2 AKT1 PTEN
20 macrodactyly 10.2
21 alzheimer disease 10.2
22 macrocephaly/autism syndrome 10.2 GPC3 PTEN
23 thyroid hurthle cell adenoma 10.1 PTEN PIK3CA
24 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.1 AKT3 PIK3R2
25 rare adenocarcinoma of the breast 10.1 AKT1 PIK3CA
26 polyposis, skin pigmentation, alopecia, and fingernail changes 10.1 GPC3 PTEN
27 scoliosis 10.1
28 embryoma 10.1 GPC3 IGF2
29 anal squamous cell carcinoma 10.1 AKT1 PIK3CA
30 hidradenoma 10.1 AKT1 PIK3CA
31 uterine body mixed cancer 10.1 PIK3CA PIK3R2
32 meningioma, familial 10.0 AKT1 IGF2 PTEN
33 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.0 PIK3CA PTEN
34 tetralogy of fallot 10.0
35 meningitis 10.0
36 gastrointestinal stromal tumor 10.0 AKT1 IGF2 PTEN
37 uterine anomalies 10.0 PTEN PIK3CA AKT1
38 respiratory system cancer 10.0 PTEN PIK3CA AKT1
39 ovarian clear cell carcinoma 10.0 PTEN PIK3CA GPC3
40 suppression of tumorigenicity 12 10.0 PTEN PIK3CA AKT1
41 uterine corpus cancer 10.0 PIK3CA PIK3R2
42 breast adenocarcinoma 10.0 AKT1 PIK3CA PTEN
43 encephalocraniocutaneous lipomatosis 10.0
44 small cell cancer of the lung 10.0 AKT1 PIK3CA PTEN
45 uterine carcinosarcoma 10.0 PTEN PIK3R2 PIK3CA
46 cutis marmorata telangiectatica congenita 10.0 PIK3R2 PIK3CA AKT3
47 megalencephaly-capillary malformation-polymicrogyria syndrome 10.0 PIK3R2 PIK3CA AKT3
48 endocrine gland cancer 9.9 PTEN IGF2 GPC3 AKT1
49 rheumatoid arthritis 9.9
50 gastric cancer 9.9

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



Diseases related to Proteus Syndrome

Symptoms & Phenotypes for Proteus Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
dolichocephaly
hyperostoses of calvaria, facial bones, and mandible

Abdomen Spleen:
splenomegaly

Head And Neck Mouth:
open mouth

Skin Nails Hair Skin:
lipoma
lymphangioma
cerebriform connective tissue nevus
lipohypoplasia
epidermal nevi
more
Skeletal Spine:
kyphoscoliosis
megaspondylodysplasia
spinal stenosis from angular kyphoscoliosis

Cardiovascular Vascular:
capillary malformations
venous malformations
lymphatic malformations
deep vein thrombosis

Skeletal Limbs:
overgrown long bones
thin cortices

Neoplasia:
ovarian cystadenoma
parotid monomorphic adenoma

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
epibulbar dermoids

Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
highly collagenized connective tissue
dermal hypoplasia

Head And Neck Face:
long face

Growth Other:
hemihypertrophy
generalized, unilateral or localized disproportionate overgrowth of any tissue

Head And Neck Nose:
low nasal bridge
wide or anteverted nostrils

Respiratory Lung:
lung cysts

Neurologic Central Nervous System:
brain malformations
spinal cord compression by tumor infiltration
mental retardation, moderate (in some patients)


Clinical features from OMIM:

176920

Human phenotypes related to Proteus Syndrome:

59 32 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
4 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
5 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
9 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
10 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
11 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
12 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
14 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
15 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
16 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
17 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
18 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
19 vascular skin abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0011276
20 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
21 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
22 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
23 decreased muscle mass 59 32 hallmark (90%) Very frequent (99-80%) HP:0003199
24 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
25 generalized hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0005595
26 exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0100777
27 pulmonary embolism 59 32 frequent (33%) Frequent (79-30%) HP:0002204
28 thick nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009928
29 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
30 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
31 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
32 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
33 lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0001004
34 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
35 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
36 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
37 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
38 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
39 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
40 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
41 diabetes insipidus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000873
42 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
43 visceral angiomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0100761
44 disproportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001519
45 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
46 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
47 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
48 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
49 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
50 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.5 PIK3CA
2 Decreased viability GR00173-A 10.5 PIK3R2
3 Decreased viability GR00221-A-1 10.5 AKT1 AKT3 PIK3CA PIK3R2
4 Decreased viability GR00221-A-2 10.5 AKT1 AKT3 PIK3CA PIK3R2
5 Decreased viability GR00221-A-3 10.5 AKT1 AKT3 RASA1
6 Decreased viability GR00221-A-4 10.5 AKT1 AKT3 PIK3CA PIK3R2 RASA1
7 Decreased viability GR00301-A 10.5 AKT3 PIK3R2
8 Decreased viability GR00381-A-1 10.5 RASA1
9 Decreased viability GR00402-S-2 10.5 AKT1 AKT3 PIK3CA PIK3R2 RASA1
10 Decreased cell migration GR00055-A-1 9.46 AKT1 AKT3 PIK3CA PIK3R2
11 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 AGGF1 AKT1 AKT3 GPC3 IGF2 PIK3CA
2 cellular MP:0005384 10.08 AGGF1 AKT1 AKT3 GPC3 IGF2 PIK3CA
3 growth/size/body region MP:0005378 10.03 AKT1 AKT3 GPC3 IGF2 PIK3CA PIK3R2
4 embryo MP:0005380 10 AGGF1 AKT1 GPC3 IGF2 PIK3CA PTEN
5 mortality/aging MP:0010768 9.97 AGGF1 AKT1 AKT3 GPC3 IGF2 PIK3CA
6 immune system MP:0005387 9.95 AKT1 AKT3 GPC3 IGF2 PIK3CA PTEN
7 muscle MP:0005369 9.8 AKT1 IGF2 PIK3CA PIK3R2 PTEN RASA1
8 neoplasm MP:0002006 9.73 AGGF1 AKT1 AKT3 PIK3CA PIK3R2 PTEN
9 nervous system MP:0003631 9.7 AGGF1 AKT1 AKT3 IGF2 PIK3CA PTEN
10 reproductive system MP:0005389 9.43 AKT1 AKT3 GPC3 IGF2 PIK3CA PTEN
11 skeleton MP:0005390 9.1 AKT1 GPC3 IGF2 PIK3CA PTEN RASA1

Drugs & Therapeutics for Proteus Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ARQ 092 in Patients With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome Recruiting NCT03094832 Phase 1, Phase 2 ARQ 092
2 Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome Active, not recruiting NCT02594215 Phase 1 ARQ 092
3 Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants Completed NCT01369953
4 Study of Proteus Syndrome and Related Congenital Disorders Recruiting NCT00001403
5 Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies Available NCT03317366 ARQ 092

Search NIH Clinical Center for Proteus Syndrome

Cochrane evidence based reviews: proteus syndrome

Genetic Tests for Proteus Syndrome

Genetic tests related to Proteus Syndrome:

# Genetic test Affiliating Genes
1 Proteus Syndrome 29 AKT1

Anatomical Context for Proteus Syndrome

MalaCards organs/tissues related to Proteus Syndrome:

41
Skin, Bone, Lung, Spinal Cord, Thymus, Brain, Ovary

Publications for Proteus Syndrome

Articles related to Proteus Syndrome:

(show top 50) (show all 331)
# Title Authors Year
1
Protean manifestations of Proteus syndrome. ( 29626058 )
2018
2
Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome. ( 29681107 )
2018
3
Case Report: &amp;quot;Incognito&amp;quot; proteus syndrome. ( 29862018 )
2018
4
Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series. ( 29329145 )
2018
5
Patient with Proteus syndrome and paratesticular ovarian-type papillary serous carcinoma. ( 29667774 )
2018
6
Myths and Misdiagnoses of Proteus Syndrome. ( 29847972 )
2018
7
Prenatal diagnosis of a fetus with Proteus syndrome. ( 29574940 )
2018
8
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report. ( 29988677 )
2018
9
Severe gynaecological involvement in Proteus Syndrome. ( 30103035 )
2018
10
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome. ( 30346092 )
2018
11
Proteus Syndrome With a Cranial Intraosseous Lipoma. ( 28938315 )
2017
12
Characterization of thrombosis in patients with Proteus syndrome. ( 28627093 )
2017
13
Quantifying survival in patients with Proteus syndrome. ( 28661492 )
2017
14
RHEGMATOGENOUS RETINAL DETACHMENT: A RARE OCULAR MANIFESTATION OF PROTEUS SYNDROME. ( 27285287 )
2017
15
Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome. ( 28576518 )
2017
16
Proteus syndrome: Unveiling the anesthetic myths. ( 28846538 )
2017
17
Proteus Syndrome with Arteriovenous Malformation. ( 28401074 )
2017
18
Proteus Syndrome with Neurological Manifestations: A Rare Presentation. ( 28553400 )
2017
19
Proteus syndrome. ( 29166516 )
2017
20
Proteus syndrome: A case report and review of the literature. ( 28451417 )
2017
21
Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome. ( 29042227 )
2017
22
Nasopharyngeal angiofibroma in an adult with Proteus syndrome. First reported case. ( 30479478 )
2017
23
Bronchoscopic concerns in Proteus syndrome: a case report. ( 27703636 )
2016
24
Recurrent cerebriform connective tissue nevus on the foot of a patient with Proteus syndrome. ( 27874891 )
2016
25
Lack of mutation-histopathology correlation in a patient with Proteus syndrome. ( 27112325 )
2016
26
Proteus Syndrome. ( 27735155 )
2016
27
Early Recognition of Proteus Syndrome. ( 27378680 )
2016
28
A rare case report of Proteus syndrome. ( 27728734 )
2016
29
Hemispherectomy Procedure in Proteus Syndrome. ( 27375761 )
2016
30
Proteus syndrome: evaluation of the immunological profile. ( 26758562 )
2016
31
Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome. ( 26872686 )
2016
32
Hemilateral proteus syndrome: an unusual hamartomatous disorder with significant cerebellar tonsillar herniation. ( 25814719 )
2015
33
Brentuximab vedotin in the treatment of a patient with refractory Hodgkin disease and Proteus syndrome - a case report and discussion. ( 26273462 )
2015
34
Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. ( 25725225 )
2015
35
Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst. ( 25782637 )
2015
36
Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome. ( 26500869 )
2015
37
Thoracolumbar scoliosis in a patient with Proteus syndrome: a case report and literature review. ( 25654373 )
2015
38
Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene. ( 25602158 )
2015
39
Surgical correction of kyphotic deformity in a patient with Proteus syndrome. ( 25862503 )
2015
40
Proteus syndrome: what the anesthetist should know. ( 25921368 )
2015
41
Huge paravertebral masses in Proteus syndrome. ( 26151577 )
2015
42
Operative Management of OSAS in a Complex Case of Proteus Syndrome. ( 26199778 )
2015
43
A Paratesticular Serous Borderline Tumor in a Pediatric Patient With Proteus Syndrome. ( 26368507 )
2015
44
Endometrioid Paraovarian Borderline Cystic Tumor in an Infant with Proteus Syndrome. ( 26558123 )
2015
45
Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome. ( 26657992 )
2015
46
Orthopaedic manifestations of Proteus syndrome in a child with literature update. ( 28377973 )
2015
47
Operative management of splenic injury in a patient with proteus syndrome. ( 25114436 )
2014
48
Proteus syndrome and hypothyroidism. An unusual association. ( 25228186 )
2014
49
Proteus syndrome: A rare cause of gigantic limb. ( 24860761 )
2014
50
AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome. ( 23884311 )
2014

Variations for Proteus Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 AKT1 p.Glu17Lys VAR_055422 rs121434592

ClinVar genetic disease variations for Proteus Syndrome:

6
# 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
2 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh38 Chromosome 14, 104780214: 104780214

Expression for Proteus Syndrome

Search GEO for disease gene expression data for Proteus Syndrome.

Pathways for Proteus Syndrome

Pathways related to Proteus Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 mTOR signaling pathway hsa04150

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

(show top 50) (show all 157)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.11 AKT1 AKT3 GPC3 IGF2 PIK3CA PIK3R2
2
Show member pathways
13.69 AGGF1 AKT1 AKT3 GPC3 PIK3CA PIK3R2
3
Show member pathways
13.28 AKT1 AKT3 IGF2 PIK3CA PIK3R2
4
Show member pathways
13.27 AKT1 AKT3 IGF2 PIK3R2 PTEN
5
Show member pathways
13.22 AKT1 AKT3 IGF2 PIK3R2 PTEN RASA1
6
Show member pathways
13.11 AKT1 AKT3 PIK3CA PIK3R2 PTEN
7
Show member pathways
13.07 AKT1 AKT3 IGF2 PIK3R2 PTEN
8
Show member pathways
13.06 AKT1 AKT3 PIK3CA PIK3R2 PTEN
9
Show member pathways
13.01 AKT1 AKT3 IGF2 PIK3CA PIK3R2 PTEN
10
Show member pathways
12.98 AKT1 AKT3 IGF2 PIK3CA PIK3R2 PTEN
11
Show member pathways
12.93 AKT1 AKT3 PIK3CA PIK3R2 PTEN
12
Show member pathways
12.93 AKT1 AKT3 PIK3CA PIK3R2 PTEN
13
Show member pathways
12.9 AKT1 AKT3 PIK3R2 PTEN
14
Show member pathways
12.9 AKT1 AKT3 PIK3CA PIK3R2 PTEN
15
Show member pathways
12.89 AKT1 AKT3 PIK3R2 RASA1
16
Show member pathways
12.86 AKT1 AKT3 PIK3CA PIK3R2
17 12.86 AKT1 AKT3 IGF2 PIK3CA PIK3R2 PTEN
18
Show member pathways
12.85 AKT1 AKT3 IGF2 PIK3CA PIK3R2
19
Show member pathways
12.82 AKT1 AKT3 PIK3CA PIK3R2 PTEN
20
Show member pathways
12.82 AKT1 AKT3 PIK3CA PIK3R2 PTEN
21
Show member pathways
12.79 AKT1 AKT3 IGF2 PIK3CA PIK3R2 PTEN
22
Show member pathways
12.78 AKT1 AKT3 PIK3CA PIK3R2
23
Show member pathways
12.78 AKT1 AKT3 PIK3CA PIK3R2 PTEN
24 12.76 AKT1 AKT3 IGF2 RASA1
25
Show member pathways
12.76 AKT1 AKT3 IGF2 PIK3CA PIK3R2 RASA1
26
Show member pathways
12.74 AKT1 AKT3 PIK3CA PIK3R2 PTEN RASA1
27
Show member pathways
12.74 AKT1 AKT3 IGF2 PIK3CA PIK3R2 PTEN
28
Show member pathways
12.72 AKT1 AKT3 PIK3CA PIK3R2 PTEN
29
Show member pathways
12.67 AKT1 AKT3 PIK3CA PIK3R2
30
Show member pathways
12.65 AKT1 AKT3 PIK3CA PIK3R2
31
Show member pathways
12.63 AKT1 AKT3 PIK3CA PIK3R2 RASA1
32
Show member pathways
12.62 AKT1 AKT3 PIK3CA PIK3R2
33
Show member pathways
12.61 AKT1 AKT3 PIK3CA PIK3R2 RASA1
34
Show member pathways
12.58 AKT1 AKT3 PIK3CA PIK3R2 RASA1
35
Show member pathways
12.58 AKT1 AKT3 PIK3CA PIK3R2 PTEN RASA1
36
Show member pathways
12.56 AKT1 PIK3CA PIK3R2 PTEN
37
Show member pathways
12.53 AKT1 AKT3 PIK3CA PIK3R2 PTEN
38
Show member pathways
12.52 AKT1 AKT3 PIK3CA PIK3R2
39
Show member pathways
12.49 AKT1 AKT3 PIK3CA PIK3R2
40
Show member pathways
12.49 AKT1 AKT3 PIK3CA PIK3R2
41
Show member pathways
12.49 AKT1 AKT3 PIK3CA PIK3R2 RASA1
42
Show member pathways
12.48 AKT1 AKT3 PIK3CA PIK3R2
43 12.47 AKT1 AKT3 PIK3CA PIK3R2
44
Show member pathways
12.46 AKT1 AKT3 GPC3 PIK3CA PIK3R2 PTEN
45
Show member pathways
12.45 AKT1 AKT3 PIK3CA PIK3R2
46
Show member pathways
12.45 AKT1 AKT3 PIK3CA PIK3R2
47
Show member pathways
12.44 AKT1 AKT3 PIK3CA PIK3R2
48
Show member pathways
12.41 AKT1 AKT3 PIK3CA PIK3R2
49
Show member pathways
12.39 IGF2 PIK3CA PIK3R2 RASA1
50
Show member pathways
12.38 AKT1 AKT3 PIK3CA PIK3R2

GO Terms for Proteus Syndrome

Cellular components related to Proteus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3CA PIK3R2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.72 IGF2 PIK3CA PIK3R2
2 cellular response to insulin stimulus GO:0032869 9.61 AKT1 PIK3R2 PTEN
3 positive regulation of glucose import GO:0046326 9.58 AKT1 GPC3
4 endothelial cell migration GO:0043542 9.58 PIK3CA PTEN
5 insulin receptor signaling pathway GO:0008286 9.58 AKT1 IGF2 PIK3R2
6 positive regulation of TOR signaling GO:0032008 9.57 AKT3 PIK3CA
7 regulation of neuron projection development GO:0010975 9.56 AKT1 PTEN
8 brain morphogenesis GO:0048854 9.54 AKT3 PTEN
9 positive regulation of endothelial cell proliferation GO:0001938 9.54 AGGF1 AKT1 AKT3
10 positive regulation of glycogen biosynthetic process GO:0045725 9.52 AKT1 IGF2
11 striated muscle cell differentiation GO:0051146 9.51 AKT1 IGF2
12 glucose metabolic process GO:0006006 9.5 AKT1 IGF2 PIK3CA
13 negative regulation of macroautophagy GO:0016242 9.49 AKT1 PIK3CA
14 anoikis GO:0043276 9.48 AKT1 PIK3CA
15 negative regulation of cell size GO:0045792 9.46 AKT1 PTEN
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 protein kinase B signaling GO:0043491 9.13 AKT1 PIK3CA PTEN
19 phosphatidylinositol 3-kinase signaling GO:0014065 8.8 AKT1 PIK3CA PIK3R2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 AGGF1 AKT1 AKT3 CDKN3 GPC3 IGF2

Sources for Proteus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....