MCID: PRT093
MIFTS: 54

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

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 2CDC, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 28ICD10, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Proteus Syndrome, Somatic:

Name: Proteus Syndrome, Somatic 50 12
Proteus Syndrome 50 11 22 46 23 24 13 52 68 25 48 37 66
Ps 24 2
Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly 68
Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly 46
 
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome 52
Hemihypertrophy and Macrocephaly 46
Wiedemann's Syndrome 11
Proteuss 68

Characteristics:

Orphanet epidemiological data:

52
proteus syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age

HPO:

62
proteus syndrome, somatic:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 176920
Disease Ontology11 DOID:13482
MeSH37 D016715
NCIt43 C85032
Orphanet52 ORPHA744
SNOMED-CT60 23150001, 394527003
ICD10 via Orphanet29 Q87.3
MESH via Orphanet38 D016715
UMLS via Orphanet67 C0085261
ICD1028 B96.4

Summaries for Proteus Syndrome, Somatic

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OMIM:50 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 TP53 Regulates Metabolic Genes and VEGF Signaling. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are reproductive system and embryo.

NIH Rare Diseases:46 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:68 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:24 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:69 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 106)
idRelated DiseaseScoreTop Affiliating Genes
1pten-related proteus syndrome11.9
2macrocephaly mesodermal hamartoma spectrum11.2
3polydactyly, preaxial type ii10.9
4pfeiffer syndrome10.9
5hemimegalencephaly10.5
6cowden disease10.5
7ovarian fetiform teratoma10.4AKT1, PTEN
8interstitial myocarditis10.4PIK3CA, PTEN
9respiratory distress syndrome in premature infants10.4AKT3, IGF2
10scott syndrome10.4
11hemochromatosis type 210.2AKT3, PIK3CA
12ovarian cancer, somatic10.2AKT1, PIK3CA
13lipomatosis10.2
14mantle cell lymphoma10.2AKT3, PTEN
15trachea sarcoma10.1AKT1, PIK3CA, PTEN
16malignant spindle cell melanoma10.1PIK3CA, PTEN
17epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.1CDKN3, PTEN
18zimmermann-laband syndrome 210.1AKT1, PIK3CA, PTEN
19brachyolmia10.1AKT1, PIK3CA, PTEN
20encapsulated thymoma10.1AKT1, AKT3, PIK3CA
21mucopolysaccharidoses10.1AKT3, PIK3CA, PTEN
22pten hamartoma tumor syndrome10.1
23proteus-like syndrome10.1
24gastrointestinal stromal tumor10.1AKT1, IGF2, PTEN
25gliosarcoma10.1AKT1, AKT3, PTEN
26extra-adrenal pheochromocytoma10.0PIK3CA, PTEN
27scoliosis10.0
28hemihypertrophy10.0
29perlman syndrome9.9
30werner syndrome9.9
31clove syndrome, somatic9.9
32hemihyperplasia, isolated9.9
33encephalocraniocutaneous lipomatosis9.9
34leishmaniasis9.9
35mucocutaneous leishmaniasis9.9
36gallbladder papillomatosis9.8AKT1, IGF2, PIK3CA, PTEN
37pelvic muscle wasting9.8PIK3CA, PTEN
38gliomatosis peritonei9.8AKT1, AKT3, PIK3CA, PTEN
39lipoma9.8
40hemangioma9.8
41hydrocephalus9.8
42hyperostosis9.8
43gingivitis9.8
44pelvic lipomatosis9.8
45neurofibromatosis9.8
46precocious puberty9.8
47gigantism9.8
48clitoris cancer9.8AKT1, AKT3, PIK3CA, PTEN
49systemic lupus erythematosus9.7
50obesity9.7

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:

 52 (show all 101)
  • long penis
  • macrocephaly
  • dolichocephaly
  • long face
  • round face
  • facial asymmetry
  • proptosis
  • chorioretinal coloboma
  • diabetes insipidus
  • melanocytic nevus
  • abnormality of skin pigmentation
  • thickened skin
  • abnormality of the metacarpal bones
  • intellectual disability
  • seizures
  • craniosynostosis
  • subcutaneous nodule
  • splenomegaly
  • generalized hirsutism
  • scoliosis
  • skeletal dysplasia
  • neoplasm
  • meningioma
  • decreased muscle mass
  • abnormal form of the vertebral bodies
  • myofibrillar myopathy
  • macrodactyly
  • cachexia
  • thrombophlebitis
  • calvarial hyperostosis
  • capillary hemangiomas
  • generalized hyperkeratosis
  • generalized hyperpigmentation
  • abnormal retinal pigmentation
  • metatarsus valgus
  • thymus hyperplasia
  • vascular skin abnormality
  • lipoma
  • neoplasm of the central nervous system
  • arteriovenous malformation
  • neoplasm of the thymus
  • neoplasm of the lung
  • asymmetric growth
  • lower limb asymmetry
  • upper limb asymmetry
  • ovarian neoplasm
  • bronchogenic cyst
  • visceral angiomatosis
  • lymphangioma
  • hyperostosis
  • macroorchidism
  • renal cyst
  • hypertelorism
  • low-set ears
  • macrotia
  • anteverted nares
  • abnormality of the neck
  • strabismus
  • downslanted palpebral fissures
  • glaucoma
  • ptosis
  • cataract
  • myopia
  • buphthalmos
  • carious teeth
  • abnormality of dental enamel
  • lymphedema
  • abnormality of finger
  • joint stiffness
  • disproportionate tall stature
  • asymmetry of the thorax
  • abnormality of the nail
  • sudden cardiac death
  • hallux valgus
  • pulmonary embolism
  • heterotopia
  • malformation of the heart and great vessels
  • recurrent infections
  • kyphosis
  • hip dislocation
  • abnormality of the wrist
  • clinodactyly of the 5th finger
  • arterial thrombosis
  • depressed nasal bridge
  • finger syndactyly
  • lung segmentation defects
  • irregular hyperpigmentation
  • abnormal subcutaneous fat tissue distribution
  • multiple cafe-au-lait spots
  • central heterochromia
  • retinal nonattachment
  • enlarged polycystic ovaries
  • retinal hamartoma
  • reduced number of teeth
  • thick nasal alae
  • sirenomelia
  • hamartoma
  • testicular neoplasm
  • epidermal nevus
  • narrow internal auditory canal
  • exostoses

HPO human phenotypes related to Proteus Syndrome, Somatic:

(show all 104)
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 meningioma occasional (7.5%) HP:0002858
57 abnormality of the wrist occasional (7.5%) HP:0003019
58 myopathy occasional (7.5%) HP:0003198
59 abnormality of the hip bone occasional (7.5%) HP:0003272
60 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
61 arterial thrombosis occasional (7.5%) HP:0004420
62 depressed nasal bridge occasional (7.5%) HP:0005280
63 generalized hyperpigmentation occasional (7.5%) HP:0007440
64 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
65 retinal hamartoma occasional (7.5%) HP:0009594
66 reduced number of teeth occasional (7.5%) HP:0009804
67 sirenomelia occasional (7.5%) HP:0010497
68 thymus hyperplasia occasional (7.5%) HP:0010516
69 testicular neoplasm occasional (7.5%) HP:0010788
70 abnormality of immune system physiology occasional (7.5%) HP:0010978
71 neoplasm of the thymus occasional (7.5%) HP:0100521
72 neoplasm of the lung occasional (7.5%) HP:0100526
73 cognitive impairment occasional (7.5%) HP:0100543
74 ovarian neoplasm occasional (7.5%) HP:0100615
75 exostoses occasional (7.5%) HP:0100777
76 conjunctival hamartoma occasional (7.5%) HP:0100780
77 open mouth HP:0000194
78 macrocephaly HP:0000256
79 dolichocephaly HP:0000268
80 long face HP:0000276
81 downslanted palpebral fissures HP:0000494
82 ptosis HP:0000508
83 hyperkeratosis HP:0000962
84 multiple lipomas HP:0001012
85 hemangioma HP:0001028
86 epibulbar dermoid HP:0001140
87 hemihypertrophy HP:0001528
88 splenomegaly HP:0001744
89 spinal cord compression HP:0002176
90 intellectual disability, moderate HP:0002342
91 deep venous thrombosis HP:0002625
92 kyphoscoliosis HP:0002751
93 thin bony cortex HP:0002753
94 spinal canal stenosis HP:0003416
95 nevus HP:0003764
96 mandibular hyperostosis HP:0004472
97 calvarial hyperostosis HP:0004490
98 depressed nasal bridge HP:0005280
99 facial hyperostosis HP:0005465
100 hypertrophy of skin of soles HP:0007403
101 depigmentation/hyperpigmentation of skin HP:0007483
102 lipoma HP:0012032
103 venous malformation HP:0012721
104 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
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 Syndrome25 23 AKT1

Anatomical Context for Proteus Syndrome, Somatic

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MalaCards organs/tissues related to Proteus Syndrome, Somatic:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2AKT1, AKT3, IGF2, PIK3CA, PTEN, TNS1
2MP:00053808.1AKT1, GLMN, IGF2, PIK3CA, PTEN, RASA1
3MP:00053877.7AKT1, AKT3, IGF2, PIK3CA, PTEN, RASA1
4MP:00036317.3AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
5MP:00053847.0AKT1, AKT3, GLMN, IGF2, PIK3CA, PTEN
6MP:00053856.8AKT1, 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:

68
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 101)
idSuper pathwaysScoreTop Affiliating Genes
19.5AKT1, AKT3, PTEN
2
Show member pathways
9.5AKT1, AKT3, PTEN
39.4AKT1, PIK3CA, PTEN
49.4AKT1, AKT3, PIK3CA
59.4AKT1, AKT3, PIK3CA
6
Show member pathways
9.4AKT1, AKT3, PIK3CA
79.4AKT1, AKT3, PIK3CA
89.4AKT1, AKT3, PIK3CA
99.4AKT1, AKT3, PIK3CA
109.4AKT1, AKT3, PIK3CA
11
Show member pathways
9.4AKT1, AKT3, PIK3CA
12
Show member pathways
9.4AKT1, AKT3, PIK3CA
139.4AKT1, AKT3, PIK3CA
14
Show member pathways
9.4AKT1, AKT3, PIK3CA
159.4AKT1, AKT3, PIK3CA
169.3AKT1, AKT3, RASA1
17
Show member pathways
9.2AKT1, PIK3CA, RASA1
18
Show member pathways
9.2AKT1, PIK3CA, RASA1
199.2AKT1, PIK3CA, RASA1
209.2AKT1, PIK3CA, RASA1
219.1AKT1, AKT3, IGF2, PTEN
229.1AKT1, AKT3, PIK3CA, PTEN
239.1AKT1, AKT3, PIK3CA, PTEN
24
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
259.1AKT1, AKT3, PIK3CA, PTEN
269.1AKT1, AKT3, PIK3CA, PTEN
27
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
28
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
29
Show member pathways
9.1AKT1, AKT3, PIK3CA, PTEN
309.1AKT1, AKT3, PIK3CA, PTEN
319.1AKT1, AKT3, PIK3CA, PTEN
329.0AKT1, AKT3, IGF2, PIK3CA
33
Show member pathways
9.0AKT1, AKT3, IGF2, PIK3CA
34
Show member pathways
9.0AKT1, AKT3, IGF2, PIK3CA
35
Show member pathways
8.9AKT1, PIK3CA, PTEN, RASA1
36
Show member pathways
8.9AKT1, PIK3CA, PTEN, RASA1
378.9AKT1, PIK3CA, PTEN, RASA1
38
Show member pathways
8.9AKT1, AKT3, PIK3CA, RASA1
39
Show member pathways
8.9AKT1, AKT3, PIK3CA, RASA1
40
Show member pathways
8.9AKT1, AKT3, PIK3CA, RASA1
41
Show member pathways
8.9AKT1, AKT3, PIK3CA, RASA1
42
Show member pathways
8.9AKT1, AKT3, PIK3CA, RASA1
43
Show member pathways
8.9AKT1, AKT3, PIK3CA, RASA1
44
Show member pathways
8.7AKT1, AKT3, IGF2, PIK3CA, PTEN
45
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, RASA1
46
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, RASA1
47
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, RASA1
48
Show member pathways
8.5AKT1, AKT3, PIK3CA, PTEN, RASA1
49
Show member pathways
8.2AKT1, AKT3, PIK3CA, PTEN, TNS1
50
Show member pathways
8.2AKT1, 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 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.3AKT1, IGF2
2insulin receptor signaling pathway via phosphatidylinositol 3-kinaseGO:003802810.2IGF2, PIK3CA
3cellular response to decreased oxygen levelsGO:003629410.2AKT1, PTEN
4negative regulation of cell sizeGO:004579210.0AKT1, PTEN
5protein kinase B signalingGO:00434919.9AKT1, PIK3CA, PTEN
6regulation of neuron projection developmentGO:00109759.9AKT1, PTEN
7phosphatidylinositol-mediated signalingGO:00480159.8AKT1, PIK3CA, PTEN
8regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.7CDKN3, PTEN
9glucose metabolic processGO:00060069.5AKT1, IGF2, PIK3CA
10endothelial cell migrationGO:00435429.4PIK3CA, PTEN
11angiogenesisGO:00015259.3AGGF1, PIK3CA, PTEN
12vasculogenesisGO:00015709.1AGGF1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet