MCID: PRT093
MIFTS: 50

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:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 3CDC, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Proteus Syndrome, Somatic, Aliases & Descriptions:

Name: Proteus Syndrome, Somatic 45 10
Proteus Syndrome 45 9 19 41 20 21 11 43 47 22 60
Partial Gigantism - Nevi - Hemihypertrophy - Macrocephaly 41 47
Ps 21 3
 
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 41
Hemihypertrophy and Macrocephaly 41
Wiedemann's Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
proteus syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age


External Ids:

OMIM45 176920
Disease Ontology9 DOID:13482
NCIt38 C85032
MeSH33 D016715
Orphanet47 744
SNOMED-CT55 394527003, 23150001
MESH via Orphanet34 D016715
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet61 C0085261
ICD1025 B96.4

Summaries for Proteus Syndrome, Somatic

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OMIM:45 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 lipomatosis and cowden syndrome 1, 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 PI-3K cascade and Focal adhesion. The compounds inositol 1,3,4,5-tetrakisphosphate and indole-3-carbinol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype adipose tissue.

NIH Rare Diseases:41 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:3 Learn how to prevent DVT, a serious blood clot that can cause illness, disability, and even, death.

Genetics Home Reference:21 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:63 Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf... more...

GeneReviews summary for proteus

Related Diseases for Proteus Syndrome, Somatic

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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:

 47 (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 108)
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 amyotrophy 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 abnormality of adipose tissue hallmark (90%) HP:0009124
13 arteriovenous malformation hallmark (90%) HP:0100026
14 lower limb asymmetry hallmark (90%) HP:0100559
15 macrodactyly of finger hallmark (90%) HP:0100746
16 lymphangioma hallmark (90%) HP:0100764
17 macrocephaly typical (50%) HP:0000256
18 dolichocephaly typical (50%) HP:0000268
19 hypertelorism typical (50%) HP:0000316
20 cafe-au-lait spot typical (50%) HP:0000957
21 hyperkeratosis typical (50%) HP:0000962
22 lymphedema typical (50%) HP:0001004
23 pulmonary embolism typical (50%) HP:0002204
24 craniofacial hyperostosis typical (50%) HP:0004493
25 finger syndactyly typical (50%) HP:0006101
26 bronchogenic cyst typical (50%) HP:0100730
27 visceral angiomatosis typical (50%) HP:0100761
28 enlarged penis occasional (7.5%) HP:0000040
29 macroorchidism occasional (7.5%) HP:0000053
30 renal cyst occasional (7.5%) HP:0000107
31 polycystic ovaries occasional (7.5%) HP:0000147
32 long face occasional (7.5%) HP:0000276
33 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
34 atresia of the external auditory canal occasional (7.5%) HP:0000413
35 anteverted nares occasional (7.5%) HP:0000463
36 abnormality of the neck occasional (7.5%) HP:0000464
37 strabismus occasional (7.5%) HP:0000486
38 downslanted palpebral fissures occasional (7.5%) HP:0000494
39 ptosis occasional (7.5%) HP:0000508
40 cataract occasional (7.5%) HP:0000518
41 proptosis occasional (7.5%) HP:0000520
42 retinal detachment occasional (7.5%) HP:0000541
43 myopia occasional (7.5%) HP:0000545
44 buphthalmos occasional (7.5%) HP:0000557
45 chorioretinal coloboma occasional (7.5%) HP:0000567
46 carious teeth occasional (7.5%) HP:0000670
47 abnormality of dental enamel occasional (7.5%) HP:0000682
48 hypertrichosis occasional (7.5%) HP:0000998
49 heterochromia iridis occasional (7.5%) HP:0001100
50 seizures occasional (7.5%) HP:0001250
51 craniosynostosis occasional (7.5%) HP:0001363
52 limitation of joint mobility occasional (7.5%) HP:0001376
53 abnormality of the nail occasional (7.5%) HP:0001597
54 sudden cardiac death occasional (7.5%) HP:0001645
55 splenomegaly occasional (7.5%) HP:0001744
56 hallux valgus occasional (7.5%) HP:0001822
57 talipes occasional (7.5%) HP:0001883
58 malformation of the heart and great vessels occasional (7.5%) HP:0002564
59 meningioma occasional (7.5%) HP:0002858
60 abnormality of the wrist occasional (7.5%) HP:0003019
61 myopathy occasional (7.5%) HP:0003198
62 abnormality of the hip bone occasional (7.5%) HP:0003272
63 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
64 arterial thrombosis occasional (7.5%) HP:0004420
65 depressed nasal bridge occasional (7.5%) HP:0005280
66 generalized hyperpigmentation occasional (7.5%) HP:0007440
67 abnormal retinal pigmentation occasional (7.5%) HP:0007703
68 retinal hamartoma occasional (7.5%) HP:0009594
69 reduced number of teeth occasional (7.5%) HP:0009804
70 sirenomelia occasional (7.5%) HP:0010497
71 thymus hyperplasia occasional (7.5%) HP:0010516
72 testicular neoplasm occasional (7.5%) HP:0010788
73 abnormality of immune system physiology occasional (7.5%) HP:0010978
74 neoplasm of the thymus occasional (7.5%) HP:0100521
75 neoplasm of the lung occasional (7.5%) HP:0100526
76 cognitive impairment occasional (7.5%) HP:0100543
77 ovarian neoplasm occasional (7.5%) HP:0100615
78 exostoses occasional (7.5%) HP:0100777
79 conjunctival hamartoma occasional (7.5%) HP:0100780
80 open mouth HP:0000194
81 macrocephaly HP:0000256
82 dolichocephaly HP:0000268
83 long face HP:0000276
84 downslanted palpebral fissures HP:0000494
85 ptosis HP:0000508
86 hyperkeratosis HP:0000962
87 multiple lipomas HP:0001012
88 hemangioma HP:0001028
89 epibulbar dermoid HP:0001140
90 hemihypertrophy HP:0001528
91 splenomegaly HP:0001744
92 spinal cord compression HP:0002176
93 intellectual disability, moderate HP:0002342
94 deep venous thrombosis HP:0002625
95 kyphoscoliosis HP:0002751
96 thin bony cortex HP:0002753
97 spinal canal stenosis HP:0003416
98 sporadic HP:0003745
99 nevus HP:0003764
100 mandibular hyperostosis HP:0004472
101 calvarial hyperostosis HP:0004490
102 depressed nasal bridge HP:0005280
103 facial hyperostosis HP:0005465
104 hypertrophy of skin of soles HP:0007403
105 depigmentation/hyperpigmentation of skin HP:0007483
106 lipoma HP:0012032
107 venous malformation HP:0012721
108 lymphangioma HP:0100764

Drugs & Therapeutics for Proteus Syndrome, Somatic

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Drug clinical trials:

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Search NIH Clinical Center for Proteus Syndrome, Somatic

Genetic Tests for Proteus Syndrome, Somatic

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Genetic tests related to Proteus Syndrome, Somatic:

id Genetic test Affiliating Genes
1 Proteus Syndrome20 22 AKT1

Anatomical Context for Proteus Syndrome, Somatic

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MalaCards organs/tissues related to Proteus Syndrome, Somatic:

31
Skin, Bone, Lung, Thymus, Ovary, Spleen, Cortex, Spinal cord, Heart, Tongue

Animal Models for Proteus Syndrome, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1AKT1, 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:

62
id Symbol AA change Variation ID SNP ID
1AKT1p.Glu17LysVAR_055422rs121434592

Clinvar genetic disease variations for Proteus Syndrome, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1AKT1NM_001014431.1(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 all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1AKT1, PTEN
2
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.1PTEN, AKT1
3
Show member pathways
9.1AKT1, PTEN
4
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
9.1AKT1, PTEN
5
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
9.1AKT1, PTEN
6
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1PTEN, AKT1
79.1AKT1, PTEN
8
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.1PTEN, AKT1
9
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
9.1AKT1, PTEN
10
Show member pathways
9.1AKT1, PTEN
119.1PTEN, AKT1
12
Show member pathways
9.1AKT1, PTEN
13
Show member pathways
9.1PTEN, AKT1
14
Show member pathways
9.1PTEN, AKT1
15
Show member pathways
9.1AKT1, PTEN
16
Show member pathways
9.1AKT1, PTEN
17
Show member pathways
9.1AKT1, PTEN
18
Show member pathways
9.1PTEN, AKT1
199.1AKT1, PTEN
20
Show member pathways
9.1PTEN, AKT1
21
Show member pathways
9.1AKT1, PTEN
22
Show member pathways
9.1AKT1, PTEN
23
Show member pathways
Signaling Pathways in Glioblastoma36
9.1AKT1, PTEN
24
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.1PTEN, AKT1
25
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.1AKT1, PTEN
269.1AKT1, PTEN
279.1PTEN, AKT1
28
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.1AKT1, PTEN
299.1PTEN, AKT1
309.1AKT1, PTEN
319.1AKT1, PTEN
32
Show member pathways
TCR signaling in naive CD8+ T cells36
9.1AKT1, PTEN
339.1PTEN, AKT1
34
Show member pathways
9.1AKT1, PTEN
35
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.1PTEN, AKT1
36
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
9.1PTEN, AKT1
37
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.1AKT1, PTEN
38
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
9.1PTEN, AKT1
399.1AKT1, PTEN
409.1AKT1, PTEN
419.1AKT1, PTEN
429.1PTEN, AKT1
43
Show member pathways
9.1AKT1, PTEN
44
Show member pathways
9.1PTEN, AKT1
45
Show member pathways
Signal transduction PTEN pathway58
9.1AKT1, PTEN
46
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.1AKT1, PTEN
479.1AKT1, PTEN

Compounds for genes affiliated with Proteus Syndrome, Somatic

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1inositol 1,3,4,5-tetrakisphosphate43 1210.5AKT1, PTEN
2indole-3-carbinol439.5AKT1, PTEN
3calyculin a43 59 1211.5AKT1, PTEN
4gefitinib43 49 1211.5AKT1, PTEN
5gemcitabine43 49 1211.5PTEN, AKT1
6vincristine43 49 1211.5AKT1, PTEN
7phosphatidylinositol-3,4,5-trisphosphate43 2410.5AKT1, PTEN
8troglitazone43 28 59 1212.5AKT1, PTEN
9mg 13243 5910.5PTEN, AKT1
10inositol439.5AKT1, PTEN
11quercetin43 59 24 1212.5AKT1, PTEN
12arsenite43 2410.5AKT1, PTEN
13ceramide439.5PTEN, AKT1
14agar439.5AKT1, PTEN
15etoposide43 49 59 1212.5AKT1, PTEN
16tamoxifen43 49 28 1212.4AKT1, PTEN
17paclitaxel43 49 1211.4PTEN, AKT1
18rapamycin439.4AKT1, PTEN
19pd 98,059439.4AKT1, PTEN
20ly294002439.4AKT1, PTEN
21wortmannin439.4PTEN, AKT1
22doxorubicin43 49 1211.4AKT1, PTEN
23glycogen43 2410.4AKT1, PTEN
24phosphoinositide439.3AKT1, PTEN
25paraffin439.3PTEN, AKT1
26genistein43 28 59 2 24 1214.3AKT1, PTEN
27pge2439.2AKT1, PTEN
28cisplatin43 49 59 1212.2AKT1, PTEN
29aspartate439.1PTEN, AKT1
30testosterone43 59 24 1212.1AKT1, PTEN
31cycloheximide439.0AKT1, PTEN
32h2o2438.8AKT1, 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 15)
idNameGO IDScoreTop Affiliating Genes
1regulation of neuron projection developmentGO:00109759.4AKT1, PTEN
2negative regulation of cell sizeGO:00457929.4AKT1, PTEN
3protein kinase B signalingGO:00434919.4AKT1, PTEN
4positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.4PTEN, AKT1
5agingGO:00075689.4AKT1, PTEN
6phosphatidylinositol-mediated signalingGO:00480159.4AKT1, PTEN
7fibroblast growth factor receptor signaling pathwayGO:00085439.3AKT1, PTEN
8Fc-epsilon receptor signaling pathwayGO:00380959.3PTEN, AKT1
9epidermal growth factor receptor signaling pathwayGO:00071739.3AKT1, PTEN
10neurotrophin TRK receptor signaling pathwayGO:00480119.2AKT1, PTEN
11positive regulation of apoptotic processGO:00430659.2AKT1, PTEN
12cell proliferationGO:00082839.1PTEN, AKT1
13innate immune responseGO:00450879.1AKT1, PTEN
14negative regulation of apoptotic processGO:00430669.0AKT1, PTEN
15apoptotic processGO:00069158.8AKT1, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.1AKT1, PTEN

Products for genes affiliated with Proteus Syndrome, Somatic

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Sources for Proteus Syndrome, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet