KEGG   DISEASE: Proteus syndrome
Entry
H02119                      Disease                                

Name
Proteus syndrome
Description
Proteus syndrome (PS) is a generally severe but highly variable disorder caused by an activating AKT1 mutation. The diagnosis of PS requires fulfillment of three general criteria: sporadic occurrence, mosaic distribution of lesions, and a progressive course in addition to various specific criteria. These specific manifestations include, but are not limited to, cerebriform connective tissue nevus, linear epidermal nevus, asymmetric, disproportionate overgrowth, dysregulated adipose tissue, vascular malformations, and lung cysts.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H02119  Proteus syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02119  Proteus syndrome
Pathway
hsa04151 PI3K-Akt signaling pathway   
hsa04150 mTOR signaling pathway   
Gene
AKT1 [HSA:207] [KO:K04456]
Comment
See also H00539 and H01222.
Other DBs
ICD-11: LD2C
ICD-10: Q87.3
MeSH: D016715
OMIM: 176920
Reference
PMID:6873112
  Authors
Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E
  Title
The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.
  Journal
Eur J Pediatr 140:5-12 (1983)
DOI:10.1007/BF00661895
Reference
  Authors
Akgumus G, Chang F, Li MM
  Title
Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
  Journal
J Mol Diagn 19:487-497 (2017)
DOI:10.1016/j.jmoldx.2017.04.001
Reference
  Authors
Turner JT, Cohen MM Jr, Biesecker LG
  Title
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
  Journal
Am J Med Genet A 130A:111-22 (2004)
DOI:10.1002/ajmg.a.30327
Reference
  Authors
Cohen MM Jr
  Title
Proteus syndrome review: molecular, clinical, and pathologic features.
  Journal
Clin Genet 85:111-9 (2014)
DOI:10.1111/cge.12266
Reference
  Authors
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG
  Title
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
  Journal
N Engl J Med 365:611-9 (2011)
DOI:10.1056/NEJMoa1104017
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