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:
49OMIM, 11diseasecard, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 2CDC, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Proteus Syndrome, Somatic:

Name: Proteus Syndrome, Somatic 49 11
Proteus Syndrome 10 21 45 22 23 47 12 51 67 36 24 65
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 Syndrome 51
Hemihypertrophy and Macrocephaly 45
Wiedemann's Syndrome 10
Proteuss 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
proteus syndrome, somatic:
Inheritance: sporadic


Classifications:



External Ids:

OMIM49 176920
Disease Ontology10 DOID:13482
MeSH36 D016715
NCIt42 C85032
Orphanet51 744
SNOMED-CT59 23150001, 394527003
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 D016715
UMLS via Orphanet66 C0085261
ICD1027 B96.4
UMLS65 C0085261

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 astrocytoma and hepatocellular carcinoma, and has symptoms including lymphangioma, macrodactyly of finger and lower limb asymmetry. An important gene associated with Proteus Syndrome, Somatic is AKT1 (V-Akt Murine Thymoma Viral Oncogene Homolog 1), and among its related pathways are VEGF Signaling and TP53 Regulates Metabolic Genes. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

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

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.

CDC:2 Learn how to prevent VTE, serious blood clots 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.

Wikipedia:68 Proteus syndrome, also known as Wiedemann syndrome (named after the German pediatrician Hans-Rudolf... more...

GeneReviews summary 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 225)
idRelated DiseaseScoreTop Affiliating Genes
1astrocytoma30.1AKT1, AKT3, PTEN
2hepatocellular carcinoma29.6AKT1, CDKN3, IGF2, PIK3CA, PTEN
3prostate cancer29.2AKT1, CDKN3, IGF2, PIK3CA, PTEN
4pten-related proteus syndrome12.3
5macrocephaly mesodermal hamartoma spectrum11.6
6pten hamartoma tumor syndrome10.5
7proteus-like syndrome10.5
8cowden disease10.3
9hemimegalencephaly10.3
10clivus chondroid chordoma10.3AKT1, PTEN
11scrotal carcinoma10.3PIK3CA, PTEN
12hand dermatosis10.3AKT3, IGF2
13endotheliitis10.3
14hiv-110.2
15breast cancer10.2
16prostatitis10.2
17neuronitis10.2
18primary gastrointestinal melanoma10.2PIK3CA, PTEN
19distal 10q deletion syndrome10.2BMPR1A, PTEN
20autosomal dominant charcot-marie-tooth disease type 2f10.2PIK3CA, PTEN
21familial drusen10.2BMPR1A, PTEN
22ovarian cancer, somatic10.2AKT1, PIK3CA
23lupus erythematosus10.2AKT1, AKT3, PTEN
24epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.1CDKN3, PTEN
25incontinentia pigmenti achromians10.1PIK3CA, PTEN
26tracheal lymphoma10.1AKT1, PIK3CA, PTEN
27obesity10.1
28insulin-like growth factor i10.1
29artery disease10.1
30dry eye syndrome10.1
31japanese encephalitis10.1
32esophagitis10.1
33dementia10.1
34hellp syndrome10.1
35hypothyroidism10.1
36endometriosis10.1
37adenocarcinoma10.1
38tuberculosis10.1
39syphilis10.1
40peritonitis10.1
41encephalitis10.1
42growth hormone deficiency10.1
43ataxia10.1
44tenosynovitis of foot and ankle10.1AKT1, PIK3CA, PTEN
45gastrointestinal stromal tumor10.1AKT1, IGF2, PTEN
46peritoneal serous papillary adenocarcinoma10.1BMPR1A, PTEN
47cell type cancer10.1AKT1, PIK3CA, PTEN
48meningitis and encephalitis10.1AKT3, PIK3CA, PTEN
49paranasal sinus disease10.1AKT1, AKT3, PIK3CA
50subendocardial myocardial infarction10.0AKT1, LEFTY2

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

Drugs & Therapeutics for Proteus Syndrome, Somatic

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FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Proleukin15 41 ALDESLEUKIN Chiron January 1998
FDA Label: Proleukin
Disease/s that Drug Treats:Metastatic melanoma
Indications and Usage:15 Proleukin® (aldesleukin) is indicated for the treatment of adults with metastatic renal cellcarcinoma (metastatic RCC).Proleukin is indicated for the treatment of adults with metastatic melanoma.Careful patient selection is mandatory prior to the administration of Proleukin. See“CONTRAINDICATIONS”, “WARNINGS” and “PRECAUTIONS” sections regarding patientscreening, including recommended cardiac and pulmonary function tests and laboratorytests.Evaluation of clinical studies to date reveals that patients with more favorable ECOGperformance status (ECOG PS 0) at treatment initiation respond better to Proleukin, with ahigher response rate and lower toxicity (See “CLINICAL PHARMACOLOGY” section,“CLINICAL STUDIES” section and “ADVERSE REACTIONS” section). Therefore, selectionof patients for treatment should include assessment of performance status.Experience in patients with ECOG PS >1 is extremely limited.
DrugBank Targets:13 1. Interleukin-2 receptor subunit beta;2. Interleukin-2 receptor subunit alpha;3. Cytokine receptor common subunit gamma
Mechanism of Action:15 
Target: human cells
Action: enhancer of immune response and strnaght ( lymphocytemitogenesis, growth of human interleukin-2 dependent cell lines, lymphocyte cytotoxicity, induction of killer cell activity and interferon-gamma production)
FDA: Proleukin® (aldesleukin) has been shown to possess the biological activities of human nativeinterleukin-2.1,2 In vitro studies performed on human cell lines demonstrate theimmunoregulatory properties of Proleukin, including: a) enhancement of lymphocytemitogenesis and stimulation of long-term growth of human interleukin-2 dependent cell lines;b) enhancement of lymphocyte cytotoxicity; c) induction of killer cell (lymphokine-activated(LAK) and natural (NK)) activity; and d) induction of interferon-gamma production.The in vivo administration of Proleukin in animals and humans produces multipleimmunological effects in a dose dependent manner. These effects include activation ofcellular immunity with profound lymphocytosis, eosinophilia, and thrombocytopenia, and theproduction of cytokines including tumor necrosis factor, IL-1 and gamma interferon. 3 In vivoexperiments in murine tumor models have shown inhibition of tumor growth.4 The exactmechanism by which Proleukin mediates its antitumor activity in animals and humans isunknown.
2
Treanda15 41 BENDAMUSTINE HYDROCHLORIDE Cephalon October 2008
FDA Label: Treanda
Disease/s that Drug Treats:Chronic lymphocytic leukemia and B-cell non-Hodgkin’s lymphoma
Indications and Usage:15 TREANDA is an alkylating drug indicated for treatment of patients with: Chronic lymphocytic leukemia (CLL). Efficacy relative to first linetherapies other than chlorambucil has not been established. (1.1) Indolent B-cell non-Hodgkin lymphoma (NHL) that has progressed duringor within six months of treatment with rituximab or a rituximab-containingregimen. (1.2)
DrugBank Targets: -
Mechanism of Action:15 
Target: -
Action: -
FDA: Bendamustine is a bifunctional mechlorethamine derivative containing a purine-like benzimidazole ring.Mechlorethamine and its derivatives form electrophilic alkyl groups. These groups form covalent bonds with electronrichnucleophilic moieties, resulting in interstrand DNA crosslinks. The bifunctional covalent linkage can lead to celldeath via several pathways. Bendamustine is active against both quiescent and dividing cells. The exact mechanism ofaction of bendamustine remains unknown.
3
Patanase15 OLOPATADINE HYDROCHLORIDE Alcon April 2008
FDA Label: Patanase
Disease/s that Drug Treats:seasonal allergic rhinitis
Indications and Usage:15 PATANASE Nasal Spray is an H1 receptor antagonist indicated for the relief of the symptoms of seasonal allergic rhinitis in adults and children 6 years of age and older. (1)
DrugBank Targets:13 Histamine H1 receptor|Protein S100-A1|Protein S100-A12|Protein S100-B|Protein S100-A13|Protein S100-A2
Mechanism of Action:15 
Target: H1 -receptor
Action: selective antagonist
FDA: Olopatadine is a histamine H1 -receptor antagonist. The antihistaminic activity of olopatadine has been documented in isolated tissues, animal models, and humans.

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 AKT1

Anatomical Context for Proteus Syndrome, Somatic

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MalaCards organs/tissues related to Proteus Syndrome, Somatic:

33
Skin, Bone, Lung, Ovary, Thymus, B cells, Tongue

Animal Models for Proteus Syndrome, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9AKT1, AKT3, BMPR1A, PIK3CA, PTEN
2MP:00053798.6AKT1, AKT3, BMPR1A, IGF2, PIK3CA, PTEN
3MP:00053898.6AKT1, AKT3, BMPR1A, IGF2, PIK3CA, PTEN
4MP:00053888.5AKT1, BMPR1A, IGF2, LEFTY2, PTEN
5MP:00053848.0AKT1, AKT3, BMPR1A, GLMN, IGF2, PIK3CA
6MP:00053807.7AKT1, BMPR1A, GLMN, IGF2, LEFTY2, PIK3CA
7MP:00053877.5AKT1, AKT3, BMPR1A, IGF2, LEFTY2, PIK3CA
8MP:00036317.2AKT1, AKT3, BMPR1A, GLMN, IGF2, LEFTY2
9MP:00107687.1AKT1, AKT3, BMPR1A, GLMN, IGF2, LEFTY2
10MP:00053787.1AKT1, AKT3, BMPR1A, GLMN, IGF2, LEFTY2
11MP:00053857.1AKT1, AKT3, BMPR1A, GLMN, IGF2, LEFTY2

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

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 93)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5AKT1, AKT3, PTEN
29.5AKT1, AKT3, PTEN
3
Show member pathways
9.5AKT1, AKT3, PTEN
4
Show member pathways
9.4AKT1, PIK3CA, PTEN
59.4AKT1, PIK3CA, PTEN
69.4AKT1, PIK3CA, PTEN
7
Show member pathways
9.4AKT1, AKT3, PIK3CA
89.4AKT1, AKT3, PIK3CA
99.4AKT1, AKT3, PIK3CA
10
Show member pathways
9.4AKT1, AKT3, PIK3CA
11
Show member pathways
9.4AKT1, AKT3, PIK3CA
129.4AKT1, AKT3, PIK3CA
139.4AKT1, AKT3, PIK3CA
149.4AKT1, AKT3, PIK3CA
159.4AKT1, AKT3, PIK3CA
169.4AKT1, AKT3, PIK3CA
179.4AKT1, AKT3, PIK3CA
189.4AKT1, AKT3, PIK3CA
19
Show member pathways
9.4AKT1, AKT3, PIK3CA
20
Show member pathways
9.4AKT1, AKT3, PIK3CA
219.4AKT1, AKT3, PIK3CA
229.4AKT1, AKT3, PIK3CA
239.2AKT1, BMPR1A, IGF2
249.1AKT1, AKT3, IGF2, PTEN
25
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
269.1AKT1, AKT3, PIK3CA, PTEN
27
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
289.1AKT1, AKT3, PIK3CA, PTEN
29
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
30
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
31
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
329.1AKT1, AKT3, PIK3CA, PTEN
33
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
349.1AKT1, AKT3, PIK3CA, PTEN
359.1AKT1, AKT3, PIK3CA, PTEN
36
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
37
Show member pathways
9.0AKT1, AKT3, IGF2, PIK3CA
38
Show member pathways
9.0AKT1, AKT3, IGF2, PIK3CA
399.0AKT1, AKT3, IGF2, PIK3CA
40
Show member pathways
8.8AKT1, AKT3, BMPR1A, PIK3CA
41
Show member pathways
8.8AKT1, AKT3, BMPR1A, PIK3CA
42
Show member pathways
8.7AKT1, AKT3, IGF2, PIK3CA, PTEN
43
Show member pathways
8.4AKT1, AKT3, BMPR1A, LEFTY2
44
Show member pathways
8.4AKT1, AKT3, BMPR1A, LEFTY2
45
Show member pathways
8.3AKT1, AKT3, IGF2, LEFTY2, PTEN
46
Show member pathways
8.3AKT1, AKT3, IGF2, LEFTY2, PTEN
477.9AKT1, AKT3, BMPR1A, LEFTY2, PIK3CA
48
Show member pathways
7.7AKT1, AKT3, BMPR1A, IGF2, LEFTY2, PTEN
49
Show member pathways
7.7AKT1, AKT3, BMPR1A, IGF2, LEFTY2, PTEN
50
Show member pathways
6.8AKT1, AKT3, BMPR1A, CDKN3, IGF2, LEFTY2

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:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.3AKT1, IGF2
2regulation of neuron projection developmentGO:001097510.2AKT1, PTEN
3endothelial cell migrationGO:004354210.0PIK3CA, PTEN
4protein kinase B signalingGO:00434919.9AKT1, PIK3CA
5ERBB2 signaling pathwayGO:00381289.8AKT1, PIK3CA
6platelet activationGO:00301688.6AKT1, IGF2, LEFTY2, 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