MCID: PRT093
MIFTS: 52

Proteus Syndrome, Somatic malady

Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Proteus Syndrome, Somatic

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 2CDC, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Proteus Syndrome, Somatic:

Name: Proteus Syndrome, Somatic 49 11
Proteus Syndrome 10 21 45 22 23 47 12 51 24 65 36 67
Ps 23 2
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 67
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 45
 
Partial Gigantism - Nevi - Hemihypertrophy - Macrocephaly 51
Hemihypertrophy and Macrocephaly 45
Wiedemann's Syndrome 10
Proteuss 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
proteus syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age


External Ids:

OMIM49 176920
Disease Ontology10 DOID:13482
NCIt42 C85032
MeSH36 D016715
Orphanet51 744
SNOMED-CT59 23150001, 394527003
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 D016715
UMLS via Orphanet66 C0085261
ICD1027 B96.4

Summaries for Proteus Syndrome, Somatic

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OMIM:49 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 klippel-trenaunay-weber syndrome and lipomatosis, and has symptoms including tall stature, melanocytic nevus and multiple lipomas. An important gene associated with Proteus Syndrome, Somatic is AKT1 (V-Akt Murine Thymoma Viral Oncogene Homolog 1), and among its related pathways are Downregulation of ERBB2-ERBB3 signaling and Nongenotropic Androgen signaling. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are muscle and tumorigenesis.

NIH Rare Diseases:45 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

CDC:2 Learn how to prevent DVT, a serious blood clot that can cause illness, disability, and even, death.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 Proteus syndrome, also known as Wiedemann syndrome (named after the German pediatrician Hans-Rudolf... more...

GeneReviews summary for proteus

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 248)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-trenaunay-weber syndrome29.8AGGF1, GLMN
2lipomatosis10.5
3scoliosis10.4
4hemimegalencephaly10.4
5scott syndrome10.3
6hemihypertrophy10.3
7lung cancer10.3
8bronchus carcinoma10.3
9bronchial neoplasm10.3
10respiratory system disease10.3
11cowden disease10.3
12encephalocraniocutaneous lipomatosis10.3
13pten-related proteus syndrome10.3
14clivus meningioma10.2AKT1, PTEN
15spindle epithelial tumor with thymus-like differentiation tumor10.2AKT1, PTEN
16osteoarthritis10.2
17macrocephaly mesodermal hamartoma spectrum10.2
18primary malignant melanoma of the cervix10.2PIK3CA, PTEN
19visual verbal agnosia10.2PIK3CA, PTEN
20adult syndrome10.2
21cowden syndrome 110.2
22lipoma10.2
23child syndrome10.2
24hemangioma10.2
25hydrocephalus10.2
26pelvic lipomatosis10.2
27neurofibromatosis10.2
28secondary syphilis10.2
29bone development disease10.2
30gingivitis10.2
31hyperostosis10.2
32pten hamartoma tumor syndrome10.2
33gigantism10.2
34kid syndrome10.2
35precocious puberty10.2
36proteus-like syndrome10.2
37vascular malformation10.2
38childhood oligodendroglioma10.2AKT3, IGF2
39foix-alajouanine syndrome10.1BMPR1A, PTEN
40nail-patella syndrome10.1
41spondylosis10.1
42spastic diplegia10.1
43pulmonary valve insufficiency10.1
44adjustment disorder10.1
45bronchial disease10.1
46respiratory failure10.1
47ovarian cancer, somatic10.1AKT1, PIK3CA
48autosomal dominant charcot-marie-tooth disease type 2f10.1PIK3CA, PTEN
49hemiplegic migraine10.1AKT3, PIK3CA
50infiltrating bladder urothelial carcinoma sarcomatoid variant10.1BMPR1A, PTEN

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

Symptoms:

 51 (show all 95)
  • asymmetric rib cage/thorax
  • kyphosis
  • scoliosis
  • abnormal vertebral size/shape
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • macrodactyly/fingers hypertrophy/megalodactyly (hand)
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • follicular/erythematous/edematous papules/milium
  • thick skin/pachydermia/orange skin
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/in bands/reticular skin hyperpigmentation
  • pigmented naevi/naevus pigmentosus/lentigo
  • vascular anomalies of skin/mucosae
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • xanthomas/lipomas
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • lymphangioma/lymphatic malformations
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • abnormal fat distribution/lipodystrophy
  • tall stature/gigantism/growth acceleration
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • hypertelorism
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • syndactyly of fingers/interdigital palm
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • cafe-au-lait spot
  • bronchogenic cyst
  • visceral angiomatosis (excluding skin)
  • pulmonary thromboembolism
  • lymphedema
  • hyperostosis
  • craniostenosis/craniosynostosis/sutural synostosis
  • long face
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • glaucoma
  • buphthalmos
  • heterochromia/mixed colouring of iris
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • retinal detachment
  • retinal hamartoma
  • retinitis pigmentosa/retinal pigmentary changes
  • myopia
  • strabismus/squint
  • ptosis
  • depressed nasal bridge
  • anteverted nares/nostrils
  • flared/thick ala nasi
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • multiple caries
  • low set ears/posteriorly rotated ears
  • external auditory canal atresia/stenosis/agenesis
  • anomalies of the neck
  • wrist/carpal anomalies
  • clinodactyly of fifth finger
  • sirenomelia/mermaid/lower limb fusion
  • talipes-valgus
  • hallux valgus
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • follicular/conjunctival hamartomas
  • hirsutism/hypertrichosis/increased body hair
  • nails anomalies
  • structural and functional anomalies of the spleen
  • splenomegaly
  • congenital cardiac anomaly/malformation/cardiopathy
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • arterial embolism/thrombosis
  • thymic hyperplasia
  • renal cyst (single)
  • abnormal/polycystic ovaries
  • macropenis/megapenis/large penis
  • macroorchidism/macrotestes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • exostoses
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • oropharyngeal neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • thymus/thymic neoplasm/tumor/carcinoma/cancer/thymoma
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • meningioma

HPO human phenotypes related to Proteus Syndrome, Somatic:

(show all 106)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 melanocytic nevus hallmark (90%) HP:0000995
3 multiple lipomas hallmark (90%) HP:0001012
4 asymmetry of the thorax hallmark (90%) HP:0001555
5 scoliosis hallmark (90%) HP:0002650
6 skeletal dysplasia hallmark (90%) HP:0002652
7 kyphosis hallmark (90%) HP:0002808
8 skeletal muscle atrophy hallmark (90%) HP:0003202
9 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
10 decreased body weight hallmark (90%) HP:0004325
11 irregular hyperpigmentation hallmark (90%) HP:0007400
12 arteriovenous malformation hallmark (90%) HP:0100026
13 lower limb asymmetry hallmark (90%) HP:0100559
14 macrodactyly of finger hallmark (90%) HP:0100746
15 lymphangioma hallmark (90%) HP:0100764
16 macrocephaly typical (50%) HP:0000256
17 dolichocephaly typical (50%) HP:0000268
18 hypertelorism typical (50%) HP:0000316
19 cafe-au-lait spot typical (50%) HP:0000957
20 hyperkeratosis typical (50%) HP:0000962
21 lymphedema typical (50%) HP:0001004
22 pulmonary embolism typical (50%) HP:0002204
23 finger syndactyly typical (50%) HP:0006101
24 bronchogenic cyst typical (50%) HP:0100730
25 visceral angiomatosis typical (50%) HP:0100761
26 long penis occasional (7.5%) HP:0000040
27 macroorchidism occasional (7.5%) HP:0000053
28 renal cyst occasional (7.5%) HP:0000107
29 polycystic ovaries occasional (7.5%) HP:0000147
30 long face occasional (7.5%) HP:0000276
31 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
32 atresia of the external auditory canal occasional (7.5%) HP:0000413
33 anteverted nares occasional (7.5%) HP:0000463
34 abnormality of the neck occasional (7.5%) HP:0000464
35 strabismus occasional (7.5%) HP:0000486
36 downslanted palpebral fissures occasional (7.5%) HP:0000494
37 ptosis occasional (7.5%) HP:0000508
38 cataract occasional (7.5%) HP:0000518
39 proptosis occasional (7.5%) HP:0000520
40 retinal detachment occasional (7.5%) HP:0000541
41 myopia occasional (7.5%) HP:0000545
42 buphthalmos occasional (7.5%) HP:0000557
43 chorioretinal coloboma occasional (7.5%) HP:0000567
44 carious teeth occasional (7.5%) HP:0000670
45 abnormality of dental enamel occasional (7.5%) HP:0000682
46 hypertrichosis occasional (7.5%) HP:0000998
47 heterochromia iridis occasional (7.5%) HP:0001100
48 seizures occasional (7.5%) HP:0001250
49 craniosynostosis occasional (7.5%) HP:0001363
50 limitation of joint mobility occasional (7.5%) HP:0001376
51 abnormality of the nail occasional (7.5%) HP:0001597
52 sudden cardiac death occasional (7.5%) HP:0001645
53 splenomegaly occasional (7.5%) HP:0001744
54 hallux valgus occasional (7.5%) HP:0001822
55 talipes occasional (7.5%) HP:0001883
56 malformation of the heart and great vessels occasional (7.5%) HP:0002564
57 meningioma occasional (7.5%) HP:0002858
58 abnormality of the wrist occasional (7.5%) HP:0003019
59 myopathy occasional (7.5%) HP:0003198
60 abnormality of the hip bone occasional (7.5%) HP:0003272
61 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
62 arterial thrombosis occasional (7.5%) HP:0004420
63 depressed nasal bridge occasional (7.5%) HP:0005280
64 generalized hyperpigmentation occasional (7.5%) HP:0007440
65 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
66 retinal hamartoma occasional (7.5%) HP:0009594
67 reduced number of teeth occasional (7.5%) HP:0009804
68 sirenomelia occasional (7.5%) HP:0010497
69 thymus hyperplasia occasional (7.5%) HP:0010516
70 testicular neoplasm occasional (7.5%) HP:0010788
71 abnormality of immune system physiology occasional (7.5%) HP:0010978
72 neoplasm of the thymus occasional (7.5%) HP:0100521
73 neoplasm of the lung occasional (7.5%) HP:0100526
74 cognitive impairment occasional (7.5%) HP:0100543
75 ovarian neoplasm occasional (7.5%) HP:0100615
76 exostoses occasional (7.5%) HP:0100777
77 conjunctival hamartoma occasional (7.5%) HP:0100780
78 open mouth HP:0000194
79 macrocephaly HP:0000256
80 dolichocephaly HP:0000268
81 long face HP:0000276
82 downslanted palpebral fissures HP:0000494
83 ptosis HP:0000508
84 hyperkeratosis HP:0000962
85 multiple lipomas HP:0001012
86 hemangioma HP:0001028
87 epibulbar dermoid HP:0001140
88 hemihypertrophy HP:0001528
89 splenomegaly HP:0001744
90 spinal cord compression HP:0002176
91 intellectual disability, moderate HP:0002342
92 deep venous thrombosis HP:0002625
93 kyphoscoliosis HP:0002751
94 thin bony cortex HP:0002753
95 spinal canal stenosis HP:0003416
96 sporadic HP:0003745
97 nevus HP:0003764
98 mandibular hyperostosis HP:0004472
99 calvarial hyperostosis HP:0004490
100 depressed nasal bridge HP:0005280
101 facial hyperostosis HP:0005465
102 hypertrophy of skin of soles HP:0007403
103 depigmentation/hyperpigmentation of skin HP:0007483
104 lipoma HP:0012032
105 venous malformation HP:0012721
106 lymphangioma HP:0100764

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 SigmoidoscopyRecruitingNCT01739608Phase 4
2Dose Finding Trial of ARQ 092 in Children and Adults With Proteus SyndromeRecruitingNCT02594215Phase 1
3Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early ParticipantsCompletedNCT01369953
4Study of Proteus Syndrome and Related Congenital DisordersRecruitingNCT00001403

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 Syndrome22 24 AKT1

Anatomical Context for Proteus Syndrome, Somatic

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MalaCards organs/tissues related to Proteus Syndrome, Somatic:

33
Skin, Bone, Lung, Thymus, Ovary, Tongue, Heart

Animal Models for Proteus Syndrome, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9AKT1, BMPR1A, IGF2, PIK3CA, PTEN
2MP:00020068.8AKT1, AKT3, BMPR1A, PIK3CA, PTEN
3MP:00053808.1AKT1, BMPR1A, GLMN, IGF2, PIK3CA, PTEN
4MP:00053858.1AKT1, BMPR1A, GLMN, IGF2, PIK3CA, PTEN
5MP:00053897.9AKT1, AKT3, BMPR1A, IGF2, PIK3CA, PTEN
6MP:00053797.7AKT1, AKT3, BMPR1A, IGF2, PIK3CA, PTEN
7MP:00053847.7AKT1, AKT3, BMPR1A, GLMN, IGF2, PIK3CA
8MP:00053787.6AKT1, AKT3, BMPR1A, GLMN, IGF2, PIK3CA
9MP:00036317.6AKT1, AKT3, BMPR1A, GLMN, IGF2, PIK3CA
10MP:00053767.4AKT1, AKT3, BMPR1A, GLMN, IGF2, PIK3CA

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:

67
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)single nucleotide variantPathogenicrs121434592GRCh37Chr 14, 105246551: 105246551

Cosmic variations for Proteus Syndrome, Somatic:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
133765AKT1bone,NS,Overgrowth syndrome,Proteus syndrome3

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 96)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7AKT1, AKT3
29.7AKT1, PIK3CA
39.4AKT1, AKT3, PTEN
4
Show member pathways
9.4AKT1, AKT3, PTEN
5
Show member pathways
9.4AKT1, AKT3, PTEN
69.4AKT1, AKT3, PTEN
79.4AKT1, PIK3CA, PTEN
89.4AKT1, PIK3CA, PTEN
9
Show member pathways
9.4AKT1, PIK3CA, PTEN
109.3AKT1, AKT3, PIK3CA
11
Show member pathways
9.3AKT1, AKT3, PIK3CA
129.3AKT1, AKT3, PIK3CA
13
Show member pathways
9.3AKT1, AKT3, PIK3CA
149.3AKT1, AKT3, PIK3CA
159.3AKT1, AKT3, PIK3CA
169.3AKT1, AKT3, PIK3CA
17
Show member pathways
9.3AKT1, AKT3, PIK3CA
18
Show member pathways
9.3AKT1, AKT3, PIK3CA
199.3AKT1, AKT3, PIK3CA
20
Show member pathways
9.3AKT1, AKT3, PIK3CA
21
VEGF Pathway (Tocris)
Show member pathways
9.3AKT1, AKT3, PIK3CA
229.3AKT1, AKT3, PIK3CA
23
Show member pathways
9.3AKT1, AKT3, PIK3CA
249.3AKT1, AKT3, PIK3CA
259.3AKT1, AKT3, PIK3CA
269.3AKT1, AKT3, PIK3CA
279.3AKT1, AKT3, PIK3CA
289.3AKT1, AKT3, PIK3CA
299.3AKT1, BMPR1A, IGF2
30
TGF-beta Signaling Pathway (sino)
Show member pathways
9.2AKT1, BMPR1A, IGF2
319.0AKT1, AKT3, IGF2, PTEN
32
B cell receptor signaling pathway (KEGG)
Show member pathways
8.9AKT1, AKT3, IGF2, PTEN
33
Show member pathways
8.9AKT1, AKT3, PIK3CA, PTEN
34
Show member pathways
8.9AKT1, AKT3, PIK3CA, PTEN
358.9AKT1, AKT3, PIK3CA, PTEN
368.9AKT1, AKT3, PIK3CA, PTEN
37
Show member pathways
8.9AKT1, AKT3, PIK3CA, PTEN
388.9AKT1, AKT3, PIK3CA, PTEN
39
Show member pathways
8.9AKT1, AKT3, PIK3CA, PTEN
40
Show member pathways
8.9AKT1, AKT3, PIK3CA, PTEN
418.9AKT1, AKT3, PIK3CA, PTEN
42
Show member pathways
8.9AKT1, AKT3, PIK3CA, PTEN
438.9AKT1, AKT3, PIK3CA, PTEN
448.9AKT1, AKT3, PIK3CA, PTEN
458.9AKT1, AKT3, IGF2, PIK3CA
46
Show member pathways
8.9AKT1, AKT3, IGF2, PIK3CA
47
Show member pathways
8.8AKT1, AKT3, BMPR1A, PIK3CA
48
Show member pathways
8.8AKT1, AKT3, BMPR1A, PIK3CA
498.8AKT1, AKT3, BMPR1A, PIK3CA
50
Show member pathways
8.6AKT1, AKT3, IGF2, PIK3CA, PTEN

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 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.4AKT1, IGF2
2negative regulation of cell sizeGO:004579210.3AKT1, PTEN
3insulin receptor signaling pathway via phosphatidylinositol 3-kinaseGO:003802810.3IGF2, PIK3CA
4regulation of neuron projection developmentGO:001097510.2AKT1, PTEN
5striated muscle cell differentiationGO:005114610.2AKT1, IGF2
6cellular response to decreased oxygen levelsGO:003629410.2AKT1, PTEN
7endothelial cell migrationGO:004354210.0PIK3CA, PTEN
8protein kinase B signalingGO:00434919.8AKT1, PIK3CA, PTEN
9phosphatidylinositol-mediated signalingGO:00480159.7AKT1, PIK3CA, PTEN
10glucose metabolic processGO:00060069.5AKT1, IGF2, PIK3CA
11angiogenesisGO:00015259.4AGGF1, PIK3CA, PTEN
12platelet activationGO:00301689.3AKT1, IGF2, PIK3CA
13protein phosphorylationGO:00064688.9AKT1, AKT3, BMPR1A, PIK3CA

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:00046748.8AKT1, AKT3, BMPR1A, PIK3CA

Sources for Proteus Syndrome, Somatic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet