PROTEUSS
MCID: PRT008
MIFTS: 65

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 58 12 77 25 54 26 60 76 38 30 56 6 45 15 74
Proteus Syndrome, Somatic 58 13
Gigantism, Partial, of Hands and Feet, Nevi, Hemihypertrophy, and Macrocephaly 58
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 76
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 54
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome 60
Hemihypertrophy and Macrocephaly 54
Syndrome, Proteus, Somatic 41
Wiedemann's Syndrome 12
Proteuss 76
Ps 26

Characteristics:

Orphanet epidemiological data:

60
proteus syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age;

OMIM:

58
Inheritance:
somatic mutation

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


HPO:

33
proteus syndrome:
Inheritance somatic mutation sporadic
Onset and clinical course infantile onset progressive


GeneReviews:

25
Penetrance Incomplete penetrance cannot be assessed in a mosaic genetic disorder that is not inherited...

Classifications:



Summaries for Proteus Syndrome

NIH Rare Diseases : 54 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 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 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 scoliosis and kyphosis

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 179)
# Related Disease Score Top Affiliating Genes
1 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.3 RASA1 PIK3CA AKT1
2 cowden syndrome 1 31.1 TSC2 TNS1 PTEN CDKN3 AKT1
3 lipomatosis 30.5 PIK3CA PTEN
4 klippel-trenaunay-weber syndrome 29.3 RASA1 GLMN AGGF1
5 hemimegalencephaly 11.4
6 cowden syndrome 11.4
7 pfeiffer syndrome 11.3
8 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
9 scott syndrome 11.3
10 proteus-like syndrome 11.2
11 polydactyly, preaxial ii 11.1
12 perlman syndrome 11.1
13 hemihyperplasia, isolated 11.1
14 frasier syndrome 10.3
15 pharynx squamous cell carcinoma 10.3 PTEN AKT1
16 thyroid hurthle cell adenoma 10.3 PTEN PIK3CA
17 cholera 10.3
18 rare adenocarcinoma of the breast 10.3 PIK3CA AKT1
19 macrocephaly/autism syndrome 10.2 PTEN GPC3
20 japanese encephalitis 10.2
21 encephalitis 10.2
22 anal squamous cell carcinoma 10.2 PIK3CA AKT1
23 hidradenoma 10.2 AKT1 PIK3CA
24 retinoblastoma 10.2
25 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 GPC3 PTEN
26 macrodactyly 10.2
27 alzheimer disease 10.2
28 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 PIK3CA PTEN
29 adult hepatocellular carcinoma 10.1 TSC2 PIK3CA
30 scoliosis 10.1
31 uterine anomalies 10.1 PTEN PIK3CA AKT1
32 endocrine gland cancer 10.1 PTEN GPC3 AKT1
33 respiratory system cancer 10.1 PTEN PIK3CA AKT1
34 tetralogy of fallot 10.1
35 suppression of tumorigenicity 12 10.1 PTEN PIK3CA AKT1
36 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1 PTEN TSC2
37 leopard syndrome 10.1 AKT1 CDKN3
38 ovarian clear cell carcinoma 10.1 PTEN PIK3CA GPC3
39 breast adenocarcinoma 10.1 PTEN PIK3CA AKT1
40 small cell cancer of the lung 10.1 PTEN PIK3CA AKT1
41 retinitis pigmentosa 10.0
42 acute insulin response 10.0
43 patulous eustachian tube 10.0
44 meningitis 10.0
45 polymyositis 10.0
46 bile duct adenocarcinoma 10.0 AKT1 GPC3
47 encephalocraniocutaneous lipomatosis 10.0
48 melanoma, cutaneous malignant 1 10.0 PTEN PIK3CA CDKN3
49 adenoid cystic carcinoma 10.0 AKT1 PIK3CA PTEN
50 tuberous sclerosis 9.9 TSC2 PIK3CA AKT1

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



Diseases related to Proteus Syndrome

Symptoms & Phenotypes for Proteus Syndrome

Human phenotypes related to Proteus Syndrome:

60 33 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
2 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
3 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
4 vascular skin abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0011276
5 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
6 decreased muscle mass 60 33 hallmark (90%) Very frequent (99-80%) HP:0003199
7 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
8 arteriovenous malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100026
9 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
10 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
11 disproportionate tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0001519
12 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
13 lower limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100559
14 lipoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0012032
15 lymphangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100764
16 macrodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0004099
17 upper limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100560
18 asymmetry of the thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0001555
19 abnormal subcutaneous fat tissue distribution 60 33 hallmark (90%) Very frequent (99-80%) HP:0007552
20 epidermal nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010816
21 capillary hemangioma 33 hallmark (90%) HP:0005306
22 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
23 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
24 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
25 generalized hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0005595
26 pulmonary embolism 60 33 frequent (33%) Frequent (79-30%) HP:0002204
27 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
28 lymphedema 60 33 frequent (33%) Frequent (79-30%) HP:0001004
29 visceral angiomatosis 60 33 frequent (33%) Frequent (79-30%) HP:0100761
30 multiple cafe-au-lait spots 60 33 frequent (33%) Frequent (79-30%) HP:0007565
31 round face 60 33 frequent (33%) Frequent (79-30%) HP:0000311
32 calvarial hyperostosis 60 33 frequent (33%) Frequent (79-30%) HP:0004490
33 thrombophlebitis 60 33 frequent (33%) Frequent (79-30%) HP:0004418
34 bronchogenic cyst 60 33 frequent (33%) Frequent (79-30%) HP:0100730
35 abnormal lung lobation 33 frequent (33%) HP:0002101
36 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
37 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
38 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
39 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
40 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
41 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
42 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
43 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
44 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
45 macroorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000053
46 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
47 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
48 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
49 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
50 abnormality of the nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001597

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
dolichocephaly
hyperostoses of calvaria, facial bones, and mandible

Abdomen Spleen:
splenomegaly

Skeletal Spine:
kyphoscoliosis
megaspondylodysplasia
spinal stenosis from angular kyphoscoliosis

Head And Neck Face:
long face

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

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 Mouth:
open mouth

Skin Nails Hair Skin:
lipoma
lymphangioma
cerebriform connective tissue nevus
lipohypoplasia
epidermal nevi
more
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.23 AKT1 CDKN3 GLMN GPC3 PIK3CA PTEN

MGI Mouse Phenotypes related to Proteus Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 AGGF1 AKT1 GLMN GPC3 PIK3CA PTEN
2 cellular MP:0005384 10.02 AGGF1 AKT1 GLMN GPC3 PIK3CA PTEN
3 embryo MP:0005380 9.92 AGGF1 AKT1 GLMN GPC3 PIK3CA PTEN
4 mortality/aging MP:0010768 9.86 AGGF1 AKT1 GLMN GPC3 PIK3CA PTEN
5 neoplasm MP:0002006 9.55 AGGF1 AKT1 PIK3CA PTEN TSC2
6 nervous system MP:0003631 9.5 AGGF1 AKT1 GLMN PIK3CA PTEN RASA1
7 reproductive system MP:0005389 9.1 AKT1 GPC3 PIK3CA PTEN TNS1 TSC2

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 30 AKT1

Anatomical Context for Proteus Syndrome

MalaCards organs/tissues related to Proteus Syndrome:

42
Skin, Bone, Lung, Spinal Cord, Thymus, Brain, Cortex

Publications for Proteus Syndrome

Articles related to Proteus Syndrome:

(show top 50) (show all 333)
# Title Authors Year
1
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome. ( 30803705 )
2019
2
Protean manifestations of Proteus syndrome. ( 29626058 )
2018
3
Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome. ( 29681107 )
2018
4
Case Report: &amp;quot;Incognito&amp;quot; proteus syndrome. ( 29862018 )
2018
5
Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series. ( 29329145 )
2018
6
Patient with Proteus syndrome and paratesticular ovarian-type papillary serous carcinoma. ( 29667774 )
2018
7
Myths and Misdiagnoses of Proteus Syndrome. ( 29847972 )
2018
8
Prenatal diagnosis of a fetus with Proteus syndrome. ( 29574940 )
2018
9
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report. ( 29988677 )
2018
10
Severe gynaecological involvement in Proteus Syndrome. ( 30103035 )
2018
11
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome. ( 30346092 )
2018
12
Selection of anesthesia for lower extremity surgery of patients with Proteus Syndrome. ( 30599424 )
2018
13
Proteus Syndrome With a Cranial Intraosseous Lipoma. ( 28938315 )
2017
14
Characterization of thrombosis in patients with Proteus syndrome. ( 28627093 )
2017
15
Quantifying survival in patients with Proteus syndrome. ( 28661492 )
2017
16
RHEGMATOGENOUS RETINAL DETACHMENT: A RARE OCULAR MANIFESTATION OF PROTEUS SYNDROME. ( 27285287 )
2017
17
Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome. ( 28576518 )
2017
18
Proteus syndrome: Unveiling the anesthetic myths. ( 28846538 )
2017
19
Proteus Syndrome with Arteriovenous Malformation. ( 28401074 )
2017
20
Proteus Syndrome with Neurological Manifestations: A Rare Presentation. ( 28553400 )
2017
21
Proteus syndrome. ( 29166516 )
2017
22
Proteus syndrome: A case report and review of the literature. ( 28451417 )
2017
23
Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome. ( 29042227 )
2017
24
Nasopharyngeal angiofibroma in an adult with Proteus syndrome. First reported case. ( 30479478 )
2017
25
Bronchoscopic concerns in Proteus syndrome: a case report. ( 27703636 )
2016
26
Recurrent cerebriform connective tissue nevus on the foot of a patient with Proteus syndrome. ( 27874891 )
2016
27
Lack of mutation-histopathology correlation in a patient with Proteus syndrome. ( 27112325 )
2016
28
Proteus Syndrome. ( 27735155 )
2016
29
Early Recognition of Proteus Syndrome. ( 27378680 )
2016
30
A rare case report of Proteus syndrome. ( 27728734 )
2016
31
Hemispherectomy Procedure in Proteus Syndrome. ( 27375761 )
2016
32
Proteus syndrome: evaluation of the immunological profile. ( 26758562 )
2016
33
Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome. ( 26872686 )
2016
34
Hemilateral proteus syndrome: an unusual hamartomatous disorder with significant cerebellar tonsillar herniation. ( 25814719 )
2015
35
Brentuximab vedotin in the treatment of a patient with refractory Hodgkin disease and Proteus syndrome - a case report and discussion. ( 26273462 )
2015
36
Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. ( 25725225 )
2015
37
Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst. ( 25782637 )
2015
38
Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome. ( 26500869 )
2015
39
Thoracolumbar scoliosis in a patient with Proteus syndrome: a case report and literature review. ( 25654373 )
2015
40
Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene. ( 25602158 )
2015
41
Surgical correction of kyphotic deformity in a patient with Proteus syndrome. ( 25862503 )
2015
42
Proteus syndrome: what the anesthetist should know. ( 25921368 )
2015
43
Huge paravertebral masses in Proteus syndrome. ( 26151577 )
2015
44
Operative Management of OSAS in a Complex Case of Proteus Syndrome. ( 26199778 )
2015
45
A Paratesticular Serous Borderline Tumor in a Pediatric Patient With Proteus Syndrome. ( 26368507 )
2015
46
Endometrioid Paraovarian Borderline Cystic Tumor in an Infant with Proteus Syndrome. ( 26558123 )
2015
47
Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome. ( 26657992 )
2015
48
Orthopaedic manifestations of Proteus syndrome in a child with literature update. ( 28377973 )
2015
49
Operative management of splenic injury in a patient with proteus syndrome. ( 25114436 )
2014
50
Proteus syndrome and hypothyroidism. An unusual association. ( 25228186 )
2014

Variations for Proteus Syndrome

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

76
# 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:

38
# 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 73)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 AGGF1 AKT1 GPC3 PIK3CA RASA1 TSC2
2
Show member pathways
12.88 AKT1 PIK3CA PTEN TSC2
3
Show member pathways
12.79 AKT1 PIK3CA PTEN TSC2
4
Show member pathways
12.78 AKT1 PIK3CA PTEN TNS1
5
Show member pathways
12.75 AKT1 PIK3CA PTEN TSC2
6
Show member pathways
12.74 AKT1 PIK3CA PTEN RASA1
7
Show member pathways
12.6 AKT1 PIK3CA PTEN TSC2
8
Show member pathways
12.58 AKT1 PIK3CA PTEN RASA1
9
Show member pathways
12.56 AKT1 PIK3CA PTEN TSC2
10
Show member pathways
12.54 AKT1 PIK3CA PTEN TSC2
11
Show member pathways
12.44 AKT1 PIK3CA PTEN RASA1
12
Show member pathways
12.37 AKT1 PIK3CA PTEN TSC2
13
Show member pathways
12.32 AKT1 PIK3CA TSC2
14
Show member pathways
12.31 AKT1 PIK3CA TSC2
15
Show member pathways
12.24 AKT1 GPC3 PIK3CA RASA1
16
Show member pathways
12.23 AKT1 PIK3CA PTEN
17
Show member pathways
12.22 AKT1 PIK3CA PTEN TSC2
18 12.2 AKT1 GPC3 PIK3CA
19
Show member pathways
12.2 AKT1 PIK3CA PTEN RASA1
20
Show member pathways
12.12 AKT1 GPC3 PIK3CA PTEN TSC2
21
Show member pathways
12.09 AKT1 PIK3CA RASA1
22 12.08 AKT1 PTEN RASA1
23
Show member pathways
12.06 AKT1 PIK3CA PTEN
24
Show member pathways
12.06 AKT1 PIK3CA PTEN TSC2
25 12.04 AKT1 PTEN TSC2
26
Show member pathways
12.03 AKT1 PIK3CA TSC2
27
Show member pathways
12.02 AKT1 PIK3CA TSC2
28
Show member pathways
11.98 AKT1 PIK3CA PTEN
29
Show member pathways
11.96 AKT1 PIK3CA RASA1
30 11.96 AKT1 PIK3CA PTEN TSC2
31 11.93 AKT1 PIK3CA PTEN TSC2
32
Show member pathways
11.91 AKT1 PIK3CA PTEN RASA1
33 11.89 AKT1 PIK3CA PTEN
34 11.87 AKT1 PIK3CA TSC2
35
Show member pathways
11.87 AKT1 PIK3CA PTEN TSC2
36 11.86 AKT1 PIK3CA PTEN
37 11.84 AKT1 PTEN TSC2
38
Show member pathways
11.83 AKT1 PIK3CA PTEN
39 11.75 AKT1 PIK3CA PTEN
40
Show member pathways
11.74 AKT1 PIK3CA RASA1
41 11.73 AKT1 PIK3CA PTEN TSC2
42 11.7 AKT1 PTEN TSC2
43 11.56 AKT1 PIK3CA PTEN
44 11.55 AKT1 PIK3CA PTEN
45
Show member pathways
11.51 AKT1 PIK3CA RASA1
46 11.42 AKT1 PIK3CA PTEN
47 11.42 AKT1 PIK3CA PTEN TSC2
48 11.32 PIK3CA RASA1
49 11.32 PIK3CA RASA1
50 11.3 AKT1 PIK3CA RASA1

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 cytoplasm GO:0005737 9.28 AGGF1 AKT1 CDKN3 GLMN PIK3CA PTEN

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.78 CDKN3 GPC3 PTEN TSC2
2 angiogenesis GO:0001525 9.73 AGGF1 PIK3CA PTEN
3 cellular response to nerve growth factor stimulus GO:1990090 9.55 AKT1 PTEN
4 positive regulation of glucose import GO:0046326 9.54 AKT1 GPC3
5 endothelial cell migration GO:0043542 9.52 PIK3CA PTEN
6 phosphatidylinositol 3-kinase signaling GO:0014065 9.51 AKT1 PIK3CA
7 vasculogenesis GO:0001570 9.5 AGGF1 GLMN RASA1
8 regulation of neuron projection development GO:0010975 9.49 AKT1 PTEN
9 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.46 PTEN TSC2
10 insulin-like growth factor receptor signaling pathway GO:0048009 9.43 AKT1 TSC2
11 negative regulation of protein kinase B signaling GO:0051898 9.43 AKT1 PTEN TSC2
12 negative regulation of macroautophagy GO:0016242 9.4 AKT1 PIK3CA
13 negative regulation of cell size GO:0045792 9.37 AKT1 PTEN
14 cellular response to decreased oxygen levels GO:0036294 9.16 AKT1 PTEN
15 anoikis GO:0043276 9.13 AKT1 PIK3CA TSC2
16 protein kinase B signaling GO:0043491 8.92 AKT1 PIK3CA PTEN TSC2

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 CDKN3 GLMN GPC3 PIK3CA

Sources for Proteus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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