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

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Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Proteus Syndrome, Somatic:

Name: Proteus Syndrome, Somatic 52 12
Proteus Syndrome 52 11 23 48 24 25 54 70 27 50 39 13 68
Ps 25 2
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 70
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 48
 
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome 54
Hemihypertrophy and Macrocephaly 48
Wiedemann's Syndrome 11
Proteuss 70

Characteristics:

Orphanet epidemiological data:

54
proteus syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age

HPO:

64
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:

OMIM52 176920
Disease Ontology11 DOID:13482
MeSH39 D016715
NCIt45 C85032
Orphanet54 ORPHA744
SNOMED-CT62 23150001, 394527003
ICD10 via Orphanet31 Q87.3
MESH via Orphanet40 D016715
UMLS via Orphanet69 C0085261
ICD1030 B96.4

Summaries for Proteus Syndrome, Somatic

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Proteus Syndrome, Somatic is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways are Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling and Signal Transduction of S1P Receptor. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and endocrine/exocrine gland.

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

CDC:2 Learn more about travel and blood clots

UniProtKB/Swiss-Prot:70 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 for NBK99495

Related Diseases for Proteus Syndrome, Somatic

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1pten-related proteus syndrome11.8
2hemimegalencephaly11.1
3cowden disease11.1
4macrocephaly mesodermal hamartoma spectrum11.0
5scott syndrome11.0
6pten hamartoma tumor syndrome10.9
7proteus-like syndrome10.9
8perlman syndrome10.8
9polydactyly, preaxial type ii10.8
10pfeiffer syndrome10.8
11clove syndrome, somatic10.8
12hemihyperplasia, isolated10.8
13uterine corpus choriocarcinoma10.2PIK3CA, PTEN
14spermatogenic failure 610.2AKT3, PIK3CA
15cholangiocarcinoma, susceptibility to10.2AKT3, IGF2
16glioma susceptibility 210.2PIK3CA, PTEN
17pierre robin syndrome and oligodactyly10.1CDKN3, PTEN
18multiple mitochondrial dysfunctions syndrome 110.1PTEN, TSC2
19hemorrhagic fever10.1IGF2, PTEN
20malignant pleural solitary fibrous tumor10.1AKT1, AKT3, PTEN
21macrocephaly/autism syndrome10.1CDKN3, PTEN
22hemorrhagic proctocolitis10.1AKT3, PIK3CA
23neurological consequences of cytomegalovirus infection10.1AKT3, PIK3CA, PTEN
24adult astrocytic tumour10.0AKT1, AKT3, PTEN
25lipomatosis10.0
26grade iii astrocytoma10.0AKT1, PTEN, TSC2
27proctitis10.0AKT1, IGF2, PIK3CA, PTEN
28adult syndrome10.0PIK3CA, PTEN
29trachea squamous cell carcinoma10.0AKT1, AKT3, PIK3CA, PTEN
30glucose-6-phosphate translocase deficiency9.9AKT1, AKT3, PIK3CA, PTEN
31scoliosis9.9
32ovarian brenner tumor9.9AKT1, PTEN, TSC2
33hemihypertrophy9.8
34bernard-soulier syndrome, type c9.8AKT1, PIK3CA, PTEN, TSC2
35encephalocraniocutaneous lipomatosis9.8
36leishmaniasis9.8
37mucocutaneous leishmaniasis9.8
38nail disorder, nonsyndromic congenital, 10,9.8AGGF1, GLMN, RASA1
39weyers ulnar ray/oligodactyly syndrome9.7AGGF1, GLMN, RASA1
40cardiomyopathy, dilated, 1h9.7AKT1, CDKN3, IGF2, PIK3CA, PTEN
41childhood teratocarcinoma of the testis9.7AKT1, CDKN3, PIK3CA, PTEN, TSC2
42lipoma9.7
43hemangioma9.7
44hydrocephalus9.7
45hyperostosis9.7
46gingivitis9.7
47pelvic lipomatosis9.7
48neurofibromatosis9.7
49gigantism9.7
50precocious puberty9.7

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



Diseases related to proteus syndrome, somatic

Symptoms & Phenotypes for Proteus Syndrome, Somatic

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Symptoms by clinical synopsis from OMIM:

176920

Clinical features from OMIM:

176920

Human phenotypes related to Proteus Syndrome, Somatic:

 54 64 (show all 121)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis64 54 Occasional (29-5%) HP:0000040
2 macrocephaly64 54 Occasional (29-5%) HP:0000256
3 dolichocephaly64 54 Frequent (79-30%) HP:0000268
4 long face64 54 Occasional (29-5%) HP:0000276
5 round face64 54 Frequent (79-30%) HP:0000311
6 facial asymmetry64 54 Occasional (29-5%) HP:0000324
7 proptosis64 54 Occasional (29-5%) HP:0000520
8 chorioretinal coloboma64 54 Occasional (29-5%) HP:0000567
9 diabetes insipidus64 54 Occasional (29-5%) HP:0000873
10 melanocytic nevus64 54 Very frequent (99-80%) HP:0000995
11 abnormality of skin pigmentation54 Very frequent (99-80%)
12 thickened skin54 Very frequent (99-80%)
13 abnormality of the metacarpal bones64 54 Occasional (29-5%) HP:0001163
14 intellectual disability64 54 Occasional (29-5%) HP:0001249
15 seizures64 54 Occasional (29-5%) HP:0001250
16 craniosynostosis64 54 Occasional (29-5%) HP:0001363
17 subcutaneous nodule64 54 Very frequent (99-80%) HP:0001482
18 splenomegaly64 54 Occasional (29-5%) HP:0001744
19 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
20 scoliosis64 54 Very frequent (99-80%) HP:0002650
21 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
22 neoplasm54 Occasional (29-5%)
23 meningioma64 54 Occasional (29-5%) HP:0002858
24 decreased muscle mass64 54 Very frequent (99-80%) HP:0003199
25 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
26 myofibrillar myopathy64 54 Occasional (29-5%) HP:0003715
27 macrodactyly64 54 Very frequent (99-80%) HP:0004099
28 cachexia64 54 Very frequent (99-80%) HP:0004326
29 thrombophlebitis64 54 Frequent (79-30%) HP:0004418
30 calvarial hyperostosis64 54 Frequent (79-30%) HP:0004490
31 capillary hemangiomas64 54 Very frequent (99-80%) HP:0005306
32 generalized hyperkeratosis64 54 Frequent (79-30%) HP:0005595
33 generalized hyperpigmentation64 54 Occasional (29-5%) HP:0007440
34 abnormality of retinal pigmentation64 54 Occasional (29-5%) HP:0007703
35 metatarsus valgus64 54 Occasional (29-5%) HP:0010508
36 thymus hyperplasia64 54 Occasional (29-5%) HP:0010516
37 vascular skin abnormality64 54 Very frequent (99-80%) HP:0011276
38 lipoma64 54 Very frequent (99-80%) HP:0012032
39 neoplasm of the central nervous system54 Occasional (29-5%)
40 arteriovenous malformation64 54 Very frequent (99-80%) HP:0100026
41 neoplasm of the thymus64 54 Occasional (29-5%) HP:0100521
42 neoplasm of the lung64 54 Occasional (29-5%) HP:0100526
43 asymmetric growth54 Very frequent (99-80%)
44 lower limb asymmetry64 54 Very frequent (99-80%) HP:0100559
45 upper limb asymmetry64 54 Very frequent (99-80%) HP:0100560
46 ovarian neoplasm64 54 Occasional (29-5%) HP:0100615
47 bronchogenic cyst64 54 Frequent (79-30%) HP:0100730
48 visceral angiomatosis64 54 Frequent (79-30%) HP:0100761
49 lymphangioma64 54 Very frequent (99-80%) HP:0100764
50 hyperostosis54 Frequent (79-30%)
51 macroorchidism64 54 Occasional (29-5%) HP:0000053
52 renal cyst64 54 Occasional (29-5%) HP:0000107
53 hypertelorism64 54 Frequent (79-30%) HP:0000316
54 low-set ears64 54 Occasional (29-5%) HP:0000369
55 macrotia64 54 Frequent (79-30%) HP:0000400
56 anteverted nares64 54 Occasional (29-5%) HP:0000463
57 abnormality of the neck64 54 Occasional (29-5%) HP:0000464
58 strabismus64 54 Occasional (29-5%) HP:0000486
59 downslanted palpebral fissures64 54 Occasional (29-5%) HP:0000494
60 glaucoma54 Occasional (29-5%)
61 ptosis64 54 Occasional (29-5%) HP:0000508
62 cataract64 54 Occasional (29-5%) HP:0000518
63 myopia64 54 Occasional (29-5%) HP:0000545
64 buphthalmos64 54 Occasional (29-5%) HP:0000557
65 carious teeth64 54 Occasional (29-5%) HP:0000670
66 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
67 lymphedema64 54 Frequent (79-30%) HP:0001004
68 abnormality of finger54 Very frequent (99-80%)
69 joint stiffness64 54 Occasional (29-5%) HP:0001387
70 disproportionate tall stature64 54 Very frequent (99-80%) HP:0001519
71 asymmetry of the thorax64 54 Very frequent (99-80%) HP:0001555
72 abnormality of the nail64 54 Occasional (29-5%) HP:0001597
73 sudden cardiac death64 54 Occasional (29-5%) HP:0001645
74 hallux valgus64 54 Occasional (29-5%) HP:0001822
75 pulmonary embolism64 54 Frequent (79-30%) HP:0002204
76 heterotopia64 54 Occasional (29-5%) HP:0002282
77 malformation of the heart and great vessels54 Occasional (29-5%)
78 recurrent infections64 54 Occasional (29-5%) HP:0002719
79 kyphosis64 54 Very frequent (99-80%) HP:0002808
80 hip dislocation64 54 Occasional (29-5%) HP:0002827
81 abnormality of the wrist64 54 Occasional (29-5%) HP:0003019
82 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
83 arterial thrombosis64 54 Occasional (29-5%) HP:0004420
84 depressed nasal bridge64 54 Occasional (29-5%) HP:0005280
85 finger syndactyly64 54 Frequent (79-30%) HP:0006101
86 lung segmentation defects54 Frequent (79-30%)
87 irregular hyperpigmentation64 54 Very frequent (99-80%) HP:0007400
88 abnormal subcutaneous fat tissue distribution64 54 Very frequent (99-80%) HP:0007552
89 multiple cafe-au-lait spots64 54 Frequent (79-30%) HP:0007565
90 central heterochromia64 54 Occasional (29-5%) HP:0007818
91 retinal nonattachment64 54 Occasional (29-5%) HP:0007899
92 enlarged polycystic ovaries64 54 Occasional (29-5%) HP:0008675
93 retinal hamartoma64 54 Occasional (29-5%) HP:0009594
94 reduced number of teeth64 54 Occasional (29-5%) HP:0009804
95 thick nasal alae64 54 Occasional (29-5%) HP:0009928
96 sirenomelia64 54 Occasional (29-5%) HP:0010497
97 hamartoma54 Frequent (79-30%)
98 testicular neoplasm64 54 Occasional (29-5%) HP:0010788
99 epidermal nevus64 54 Very frequent (99-80%) HP:0010816
100 narrow internal auditory canal64 54 Occasional (29-5%) HP:0011386
101 exostoses64 54 Occasional (29-5%) HP:0100777
102 open mouth64 HP:0000194
103 hyperkeratosis64 HP:0000962
104 multiple lipomas64 HP:0001012
105 hemangioma64 HP:0001028
106 epibulbar dermoid64 HP:0001140
107 hemihypertrophy64 HP:0001528
108 spinal cord compression64 HP:0002176
109 intellectual disability, moderate64 HP:0002342
110 deep venous thrombosis64 HP:0002625
111 kyphoscoliosis64 HP:0002751
112 thin bony cortex64 HP:0002753
113 spinal canal stenosis64 HP:0003416
114 nevus64 HP:0003764
115 mandibular hyperostosis64 HP:0004472
116 facial hyperostosis64 HP:0005465
117 hypertrophy of skin of soles64 HP:0007403
118 depigmentation/hyperpigmentation of skin64 HP:0007483
119 venous malformation64 HP:0012721
120 abnormal lung lobation64 HP:0002101
121 abnormality of cardiovascular system morphology64 HP:0030680

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00104-A-010.1CDKN3, IGF2, PTEN

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.0AKT1, AKT3, IGF2, PIK3CA, PTEN, TSC2
2MP:00020068.9AGGF1, AKT1, AKT3, PIK3CA, PTEN, TSC2
3MP:00053868.6AGGF1, AKT1, AKT3, IGF2, PIK3CA, PTEN
4MP:00053898.2AKT1, AKT3, IGF2, PIK3CA, PTEN, TSC2
5MP:00053787.6AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
6MP:00053807.5AGGF1, AKT1, GLMN, IGF2, PIK3CA, PTEN
7MP:00053857.2AGGF1, AKT1, AKT3, GLMN, IGF2, PIK3CA
8MP:00053847.2AGGF1, AKT1, AKT3, GLMN, IGF2, PIK3CA
9MP:00107687.1AGGF1, AKT1, AKT3, GLMN, IGF2, PIK3CA
10MP:00036317.0AGGF1, AKT1, AKT3, GLMN, IGF2, PIK3CA

Drugs & Therapeutics for Proteus Syndrome, Somatic

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Participation and Detection Rate Diagnostic of a Colorectal Cancer Screening Program: CT Colonography vs. Flexible SigmoidoscopyUnknown statusNCT01739608Phase 4
2Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular AnomaliesRecruitingNCT03094832Phase 1, Phase 2
3Dose Finding Trial of ARQ 092 in Children and Adults With Proteus SyndromeEnrolling by invitationNCT02594215Phase 1
4Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early ParticipantsCompletedNCT01369953
5Study of Proteus Syndrome and Related Congenital DisordersRecruitingNCT00001403
6Feasibility of an Ingestible Sensor System to Measure PrEP Adherence in YMSMNot yet recruitingNCT02891720

Search NIH Clinical Center for Proteus Syndrome, Somatic


Cochrane evidence based reviews: proteus syndrome

Genetic Tests for Proteus Syndrome, Somatic

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Genetic tests related to Proteus Syndrome, Somatic:

id Genetic test Affiliating Genes
1 Proteus Syndrome27 24 AKT1

Anatomical Context for Proteus Syndrome, Somatic

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MalaCards organs/tissues related to Proteus Syndrome, Somatic:

36
Skin, Lung, Bone, Thymus, Ovary, Spinal cord, Cortex

Publications for Proteus Syndrome, Somatic

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Variations for Proteus Syndrome, Somatic

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

70
id Symbol AA change Variation ID SNP ID
1AKT1p.Glu17LysVAR_055422rs121434592

Clinvar genetic disease variations for Proteus Syndrome, Somatic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AKT1NM_ 005163.2(AKT1): c.49G> A (p.Glu17Lys)SNVPathogenic/ Likely pathogenicrs121434592GRCh37Chr 14, 105246551: 105246551

Expression for genes affiliated with Proteus Syndrome, Somatic

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

Pathways for genes affiliated with Proteus Syndrome, Somatic

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

(show top 50)    (show all 118)
idSuper pathwaysScoreTop Affiliating Genes
19.9AKT1, PTEN
29.8AKT1, AKT3
39.8AKT1, PIK3CA
49.8AKT1, PIK3CA
59.8AKT1, PIK3CA
69.8AKT1, PIK3CA
79.8AKT1, PIK3CA
89.8AKT1, PIK3CA
99.8AKT1, PIK3CA
109.8AKT1, PIK3CA
119.8AKT1, PIK3CA
12
Show member pathways
9.8AKT1, PIK3CA
139.8AKT1, PIK3CA
149.8AKT1, PIK3CA
159.8AKT1, PIK3CA
16
Show member pathways
9.8AKT1, PIK3CA
179.7AKT1, TSC2
189.7AKT1, TSC2
19
Show member pathways
9.5AKT1, AKT3, PTEN
20
Show member pathways
9.5AKT1, AKT3, PTEN
219.4AKT1, PIK3CA, PTEN
22
Show member pathways
9.4AKT1, PIK3CA, PTEN
239.4AKT1, PIK3CA, PTEN
24
Show member pathways
9.4AKT1, AKT3, PIK3CA
25
Show member pathways
9.4AKT1, AKT3, PIK3CA
269.4AKT1, AKT3, PIK3CA
279.4AKT1, AKT3, PIK3CA
289.4AKT1, AKT3, PIK3CA
299.4AKT1, AKT3, PIK3CA
30
Show member pathways
9.4AKT1, AKT3, PIK3CA
31
Show member pathways
9.4AKT1, AKT3, PIK3CA
329.4AKT1, AKT3, PIK3CA
33
Show member pathways
9.4AKT1, AKT3, PIK3CA
349.4AKT1, AKT3, PIK3CA
35
Show member pathways
9.4AKT1, AKT3, PIK3CA
36
Show member pathways
9.4AKT1, AKT3, PIK3CA
379.4AKT1, AKT3, PIK3CA
38
Show member pathways
9.4AKT1, AKT3, PIK3CA
399.4AKT1, AKT3, PIK3CA
40
Show member pathways
9.4AKT1, AKT3, PIK3CA
41
Show member pathways
9.4AKT1, AKT3, PIK3CA
42
Show member pathways
9.4AKT1, AKT3, PIK3CA
43
Show member pathways
9.4AKT1, AKT3, PIK3CA
44
Show member pathways
9.4AKT1, AKT3, PIK3CA
45
Show member pathways
9.4AKT1, AKT3, PIK3CA
46
Show member pathways
9.4AKT1, AKT3, PIK3CA
479.4AKT1, AKT3, PIK3CA
489.4AKT1, AKT3, PIK3CA
499.4AKT1, AKT3, PIK3CA
509.4AKT1, AKT3, PIK3CA

GO Terms for genes affiliated with Proteus Syndrome, Somatic

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cellular response to decreased oxygen levelsGO:003629410.5AKT1, PTEN
2cellular response to nerve growth factor stimulusGO:199009010.5AKT1, PTEN
3negative regulation of cell sizeGO:004579210.5AKT1, PTEN
4brain morphogenesisGO:004885410.4AKT3, PTEN
5positive regulation of glycogen biosynthetic processGO:004572510.4AKT1, IGF2
6endothelial cell migrationGO:004354210.4PIK3CA, PTEN
7negative regulation of macroautophagyGO:001624210.4AKT1, PIK3CA
8insulin receptor signaling pathway via phosphatidylinositol 3-kinaseGO:003802810.4IGF2, PIK3CA
9regulation of neuron projection developmentGO:001097510.3AKT1, PTEN
10insulin-like growth factor receptor signaling pathwayGO:004800910.3AKT1, TSC2
11positive regulation of TOR signalingGO:003200810.3AKT3, PIK3CA
12negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.3PTEN, TSC2
13regulation of cyclin-dependent protein serine/threonine kinase activityGO:000007910.1CDKN3, PTEN
14glucose metabolic processGO:000600610.1AKT1, IGF2, PIK3CA
15phosphatidylinositol-mediated signalingGO:004801510.0AKT1, PIK3CA, PTEN
16angiogenesisGO:00015259.9AGGF1, PIK3CA, PTEN
17anoikisGO:00432769.9AKT1, PIK3CA, TSC2
18protein kinase B signalingGO:00434919.5AKT1, PIK3CA, PTEN, TSC2
19vasculogenesisGO:00015708.6AGGF1, GLMN, RASA1

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055155.8AGGF1, AKT1, AKT3, CDKN3, GLMN, IGF2

Sources for Proteus Syndrome, Somatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet