MCID: PRT093
MIFTS: 55

Proteus Syndrome, Somatic malady

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

Aliases & Classifications for Proteus Syndrome, Somatic

About this section
Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Proteus Syndrome, Somatic:

Name: Proteus Syndrome, Somatic 51 12
Proteus Syndrome 51 11 23 47 24 25 53 69 26 49 38 13 67
Ps 25 2
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 69
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 47
 
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome 53
Hemihypertrophy and Macrocephaly 47
Wiedemann's Syndrome 11
Proteuss 69

Characteristics:

Orphanet epidemiological data:

53
proteus syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age

HPO:

63
proteus syndrome, somatic:
Inheritance: sporadic

GeneReviews:

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


Classifications:



External Ids:

OMIM51 176920
Disease Ontology11 DOID:13482
MeSH38 D016715
NCIt44 C85032
Orphanet53 ORPHA744
SNOMED-CT61 23150001, 394527003
ICD10 via Orphanet30 Q87.3
MESH via Orphanet39 D016715
UMLS via Orphanet68 C0085261
ICD1029 B96.4

Summaries for Proteus Syndrome, Somatic

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OMIM:51 Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts,... (176920) more...

MalaCards based summary: Proteus Syndrome, Somatic, also known as proteus syndrome, is related to pten-related proteus syndrome and macrocephaly mesodermal hamartoma spectrum, and has symptoms including tall stature, melanocytic nevus and multiple lipomas. An important gene associated with Proteus Syndrome, Somatic is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Carbohydrate digestion and absorption. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are neoplasm and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:69 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.

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.

NIH Rare Diseases:47 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

Wikipedia:70 Proteus syndrome, also known as Wiedemann syndrome (named after the German pediatrician Hans-Rudolf... 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 98)
idRelated DiseaseScoreTop Affiliating Genes
1pten-related proteus syndrome11.8
2macrocephaly mesodermal hamartoma spectrum11.0
3scott syndrome11.0
4clove syndrome, somatic10.8
5hemihyperplasia, isolated10.8
6proteus-like syndrome10.8
7perlman syndrome10.8
8polydactyly, preaxial type ii10.8
9werner syndrome10.8
10pfeiffer syndrome10.8
11ovarian fetiform teratoma10.4AKT1, PTEN
12interstitial myocarditis10.4PIK3CA, PTEN
13respiratory distress syndrome in premature infants10.3AKT3, IGF2
14hemochromatosis type 210.2AKT3, PIK3CA
15ovarian cancer, somatic10.2AKT1, PIK3CA
16trachea sarcoma10.1AKT1, PIK3CA, PTEN
17epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.1CDKN3, PTEN
18gastrointestinal stromal tumor10.1AKT1, IGF2, PTEN
19zimmermann-laband syndrome 210.1AKT1, PIK3CA, PTEN
20glioma susceptibility 210.1CDKN3, PTEN
21pelvic muscle wasting10.1PIK3CA, PTEN
22gliosarcoma10.1AKT1, AKT3, PTEN
23encapsulated thymoma10.1AKT1, AKT3, PIK3CA
24mucopolysaccharidoses10.1AKT3, PIK3CA, PTEN
25lipomatosis10.0
26malignant spindle cell melanoma10.0PIK3CA, PTEN
27corneal fleck dystrophy9.9AKT3, TSC2
28cystadenoma9.9AKT1, PTEN, TSC2
29scoliosis9.9
30hemihypertrophy9.8
31hemimegalencephaly9.8
32gallbladder papillomatosis9.8AKT1, IGF2, PIK3CA, PTEN
33extra-adrenal pheochromocytoma9.8PIK3CA, PTEN
34gliomatosis peritonei9.8AKT1, AKT3, PIK3CA, PTEN
35encephalocraniocutaneous lipomatosis9.8
36clitoris cancer9.8AKT1, AKT3, PIK3CA, PTEN
37leishmaniasis9.8
38mucocutaneous leishmaniasis9.8
39lipoma9.7
40hemangioma9.7
41hydrocephalus9.7
42hyperostosis9.7
43gingivitis9.7
44pelvic lipomatosis9.7
45gigantism9.7
46precocious puberty9.7
47lipoma of the rectum9.7AKT1, CDKN3, PIK3CA, PTEN
48systemic lupus erythematosus9.6
49obesity9.6
50osteoarthritis9.6

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



Diseases related to proteus syndrome, somatic

Symptoms 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:

 63 53 (show all 137)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature63 hallmark (90%) HP:0000098
2 melanocytic nevus63 53 hallmark (90%) Very frequent (99-80%) HP:0000995
3 multiple lipomas63 hallmark (90%) HP:0001012
4 asymmetry of the thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0001555
5 scoliosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002650
6 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
7 kyphosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002808
8 skeletal muscle atrophy63 hallmark (90%) HP:0003202
9 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
10 decreased body weight63 hallmark (90%) HP:0004325
11 irregular hyperpigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007400
12 arteriovenous malformation63 53 hallmark (90%) Very frequent (99-80%) HP:0100026
13 lower limb asymmetry63 53 hallmark (90%) Very frequent (99-80%) HP:0100559
14 macrodactyly of finger63 hallmark (90%) HP:0100746
15 lymphangioma63 53 hallmark (90%) Very frequent (99-80%) HP:0100764
16 macrocephaly63 53 typical (50%) Occasional (29-5%) HP:0000256
17 dolichocephaly63 53 typical (50%) Frequent (79-30%) HP:0000268
18 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
19 cafe-au-lait spot63 typical (50%) HP:0000957
20 hyperkeratosis63 typical (50%) HP:0000962
21 lymphedema63 53 typical (50%) Frequent (79-30%) HP:0001004
22 pulmonary embolism63 53 typical (50%) Frequent (79-30%) HP:0002204
23 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
24 bronchogenic cyst63 53 typical (50%) Frequent (79-30%) HP:0100730
25 visceral angiomatosis63 53 typical (50%) Frequent (79-30%) HP:0100761
26 long penis63 53 occasional (7.5%) Occasional (29-5%) HP:0000040
27 macroorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000053
28 renal cyst63 53 occasional (7.5%) Occasional (29-5%) HP:0000107
29 polycystic ovaries63 occasional (7.5%) HP:0000147
30 long face63 53 occasional (7.5%) Occasional (29-5%) HP:0000276
31 low-set, posteriorly rotated ears63 occasional (7.5%) HP:0000368
32 atresia of the external auditory canal63 occasional (7.5%) HP:0000413
33 anteverted nares63 53 occasional (7.5%) Occasional (29-5%) HP:0000463
34 abnormality of the neck63 53 occasional (7.5%) Occasional (29-5%) HP:0000464
35 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
36 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
37 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
38 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
39 proptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000520
40 retinal detachment63 occasional (7.5%) HP:0000541
41 myopia63 53 occasional (7.5%) Occasional (29-5%) HP:0000545
42 buphthalmos63 53 occasional (7.5%) Occasional (29-5%) HP:0000557
43 chorioretinal coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000567
44 carious teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000670
45 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
46 hypertrichosis63 occasional (7.5%) HP:0000998
47 heterochromia iridis63 occasional (7.5%) HP:0001100
48 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
49 craniosynostosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001363
50 limitation of joint mobility63 occasional (7.5%) HP:0001376
51 abnormality of the nail63 53 occasional (7.5%) Occasional (29-5%) HP:0001597
52 sudden cardiac death63 53 occasional (7.5%) Occasional (29-5%) HP:0001645
53 splenomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001744
54 hallux valgus63 53 occasional (7.5%) Occasional (29-5%) HP:0001822
55 talipes63 occasional (7.5%) HP:0001883
56 meningioma63 53 occasional (7.5%) Occasional (29-5%) HP:0002858
57 abnormality of the wrist63 53 occasional (7.5%) Occasional (29-5%) HP:0003019
58 myopathy63 occasional (7.5%) HP:0003198
59 abnormality of the hip bone63 occasional (7.5%) HP:0003272
60 clinodactyly of the 5th finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004209
61 arterial thrombosis63 53 occasional (7.5%) Occasional (29-5%) HP:0004420
62 depressed nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0005280
63 generalized hyperpigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007440
64 abnormality of retinal pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007703
65 retinal hamartoma63 53 occasional (7.5%) Occasional (29-5%) HP:0009594
66 reduced number of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0009804
67 sirenomelia63 53 occasional (7.5%) Occasional (29-5%) HP:0010497
68 thymus hyperplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0010516
69 testicular neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0010788
70 abnormality of immune system physiology63 occasional (7.5%) HP:0010978
71 neoplasm of the thymus63 53 occasional (7.5%) Occasional (29-5%) HP:0100521
72 neoplasm of the lung63 53 occasional (7.5%) Occasional (29-5%) HP:0100526
73 cognitive impairment63 occasional (7.5%) HP:0100543
74 ovarian neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0100615
75 exostoses63 53 occasional (7.5%) Occasional (29-5%) HP:0100777
76 conjunctival hamartoma63 occasional (7.5%) HP:0100780
77 open mouth63 HP:0000194
78 hemangioma63 HP:0001028
79 epibulbar dermoid63 HP:0001140
80 hemihypertrophy63 HP:0001528
81 spinal cord compression63 HP:0002176
82 intellectual disability, moderate63 HP:0002342
83 deep venous thrombosis63 HP:0002625
84 kyphoscoliosis63 HP:0002751
85 thin bony cortex63 HP:0002753
86 spinal canal stenosis63 HP:0003416
87 nevus63 HP:0003764
88 mandibular hyperostosis63 HP:0004472
89 calvarial hyperostosis63 53 Frequent (79-30%) HP:0004490
90 facial hyperostosis63 HP:0005465
91 hypertrophy of skin of soles63 HP:0007403
92 depigmentation/hyperpigmentation of skin63 HP:0007483
93 lipoma63 53 Very frequent (99-80%) HP:0012032
94 venous malformation63 HP:0012721
95 round face53 Frequent (79-30%)
96 facial asymmetry53 Occasional (29-5%)
97 diabetes insipidus53 Occasional (29-5%)
98 abnormality of skin pigmentation53 Very frequent (99-80%)
99 thickened skin53 Very frequent (99-80%)
100 abnormality of the metacarpal bones53 Occasional (29-5%)
101 intellectual disability53 Occasional (29-5%)
102 subcutaneous nodule53 Very frequent (99-80%)
103 generalized hirsutism53 Occasional (29-5%)
104 neoplasm53 Occasional (29-5%)
105 decreased muscle mass53 Very frequent (99-80%)
106 myofibrillar myopathy53 Occasional (29-5%)
107 macrodactyly53 Very frequent (99-80%)
108 cachexia53 Very frequent (99-80%)
109 thrombophlebitis53 Frequent (79-30%)
110 capillary hemangiomas53 Very frequent (99-80%)
111 generalized hyperkeratosis53 Frequent (79-30%)
112 metatarsus valgus53 Occasional (29-5%)
113 vascular skin abnormality53 Very frequent (99-80%)
114 neoplasm of the central nervous system53 Occasional (29-5%)
115 asymmetric growth53 Very frequent (99-80%)
116 upper limb asymmetry53 Very frequent (99-80%)
117 hyperostosis53 Frequent (79-30%)
118 low-set ears53 Occasional (29-5%)
119 macrotia53 Frequent (79-30%)
120 glaucoma53 Occasional (29-5%)
121 abnormality of finger53 Very frequent (99-80%)
122 joint stiffness53 Occasional (29-5%)
123 disproportionate tall stature53 Very frequent (99-80%)
124 heterotopia53 Occasional (29-5%)
125 malformation of the heart and great vessels53 Occasional (29-5%)
126 recurrent infections53 Occasional (29-5%)
127 hip dislocation53 Occasional (29-5%)
128 lung segmentation defects53 Frequent (79-30%)
129 abnormal subcutaneous fat tissue distribution53 Very frequent (99-80%)
130 multiple cafe-au-lait spots53 Frequent (79-30%)
131 central heterochromia53 Occasional (29-5%)
132 retinal nonattachment53 Occasional (29-5%)
133 enlarged polycystic ovaries53 Occasional (29-5%)
134 thick nasal alae53 Occasional (29-5%)
135 hamartoma53 Frequent (79-30%)
136 epidermal nevus53 Very frequent (99-80%)
137 narrow internal auditory canal53 Occasional (29-5%)

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
2Dose Finding Trial of ARQ 092 in Children and Adults With Proteus SyndromeEnrolling by invitationNCT02594215Phase 1
3Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early ParticipantsCompletedNCT01369953
4Study of Proteus Syndrome and Related Congenital DisordersRecruitingNCT00001403
5Feasibility 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 Syndrome26 24 AKT1

Anatomical Context for Proteus Syndrome, Somatic

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MalaCards organs/tissues related to Proteus Syndrome, Somatic:

35
Skin, Bone, Lung, Ovary, Thymus, Heart, Cortex

Animal Models for Proteus Syndrome, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.3AKT1, AKT3, PIK3CA, PTEN, TSC2
2MP:00053799.0AKT1, AKT3, IGF2, PIK3CA, PTEN, TSC2
3MP:00053898.2AKT1, AKT3, IGF2, PIK3CA, PTEN, TSC2
4MP:00053808.0AKT1, GLMN, IGF2, PIK3CA, PTEN, RASA1
5MP:00053857.6AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
6MP:00053847.6AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
7MP:00053787.6AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
8MP:00107687.6AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
9MP:00036317.5AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN

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:

69
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)SNVPathogenicrs121434592GRCh37Chr 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 all 42)
idSuper pathwaysScoreTop Affiliating Genes
19.4AKT1, AKT3, PIK3CA
29.4AKT1, AKT3, PIK3CA
3
Show member pathways
9.4AKT1, AKT3, PIK3CA
49.4AKT1, AKT3, PIK3CA
5
Show member pathways
9.3AKT1, AKT3, TSC2
69.1AKT1, AKT3, PIK3CA, PTEN
79.1AKT1, AKT3, PIK3CA, PTEN
89.1AKT1, AKT3, PIK3CA, PTEN
9
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
10
Show member pathways
9.0AKT1, AKT3, IGF2, PIK3CA
119.0AKT1, AKT3, IGF2, PIK3CA
12
Show member pathways
9.0AKT1, AKT3, PTEN, TSC2
139.0AKT1, AKT3, PTEN, TSC2
149.0AKT1, AKT3, PTEN, TSC2
15
Show member pathways
9.0AKT1, AKT3, PTEN, TSC2
16
Show member pathways
8.9AKT1, PIK3CA, RASA1
178.9AKT1, PIK3CA, RASA1
188.9AKT1, PIK3CA, PTEN, TSC2
19
Show member pathways
8.9AKT1, AKT3, PIK3CA, TSC2
208.9AKT1, AKT3, PIK3CA, TSC2
21
Show member pathways
8.9AKT1, AKT3, PIK3CA, TSC2
228.6AKT1, PIK3CA, PTEN, RASA1
23
Show member pathways
8.6AKT1, PIK3CA, PTEN, RASA1
248.6AKT1, AKT3, IGF2, PTEN, TSC2
25
Show member pathways
8.6AKT1, AKT3, PIK3CA, RASA1
26
Show member pathways
8.6AKT1, AKT3, PIK3CA, RASA1
27
Show member pathways
8.6AKT1, AKT3, PIK3CA, RASA1
28
Show member pathways
8.6AKT1, AKT3, PIK3CA, RASA1
29
Show member pathways
8.6AKT1, AKT3, PIK3CA, RASA1
30
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, TSC2
31
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, TSC2
328.5AKT1, AKT3, PIK3CA, PTEN, TSC2
33
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, TSC2
34
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, TSC2
358.5AKT1, AKT3, PIK3CA, PTEN, TSC2
36
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, TSC2
37
Show member pathways
8.2AKT1, AKT3, PIK3CA, PTEN, RASA1
38
Show member pathways
8.2AKT1, AKT3, PIK3CA, PTEN, RASA1
39
Show member pathways
8.2AKT1, AKT3, PIK3CA, PTEN, RASA1
40
Show member pathways
8.2AKT1, AKT3, PIK3CA, PTEN, RASA1
41
Show member pathways
8.2AKT1, AKT3, IGF2, PIK3CA, PTEN, TSC2
42
Show member pathways
7.9AKT1, AKT3, IGF2, PIK3CA, PTEN, RASA1

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 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.3AKT1, IGF2
2cellular response to decreased oxygen levelsGO:003629410.3AKT1, PTEN
3insulin receptor signaling pathway via phosphatidylinositol 3-kinaseGO:003802810.2IGF2, PIK3CA
4negative regulation of cell sizeGO:004579210.1AKT1, PTEN
5insulin-like growth factor receptor signaling pathwayGO:004800910.0AKT1, TSC2
6negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.0PTEN, TSC2
7phosphatidylinositol-mediated signalingGO:00480159.8AKT1, PIK3CA, PTEN
8regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.8CDKN3, PTEN
9regulation of neuron projection developmentGO:00109759.8AKT1, PTEN
10endothelial cell migrationGO:00435429.7PIK3CA, PTEN
11negative regulation of protein kinase B signalingGO:00518989.6PTEN, TSC2
12glucose metabolic processGO:00060069.6AKT1, IGF2, PIK3CA
13angiogenesisGO:00015259.4AGGF1, PIK3CA, PTEN
14protein kinase B signalingGO:00434919.4AKT1, PIK3CA, PTEN, TSC2
15vasculogenesisGO:00015708.9AGGF1, GLMN, RASA1

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00081389.6CDKN3, PTEN

Sources for Proteus Syndrome, Somatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet