KEGG DISEASE: プロテウス症候群

KEGG

DISEASE: プロテウス症候群

エントリ

H02119

名称

プロテウス症候群

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD2C  過(剰)成長症候群
    H02119  プロテウス症候群
パスウェイに基づく疾患分類 [BR:jp08402]
シグナル伝達
  nt06530  PI3K シグナリング
   H02119  プロテウス症候群

パスウェイ

PI3K-Akt signaling pathway

ネットワーク

nt06530 PI3K signaling

病因遺伝子

AKT1 [HSA:207] [KO:K04456]

コメント

See also H00539 and H01222.

リンク

ICD-11:

MeSH:

OMIM:

文献

著者

Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E

タイトル

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.

雑誌

Eur J Pediatr 140:5-12 (1983)
DOI:10.1007/BF00661895

文献

著者

Akgumus G, Chang F, Li MM

タイトル

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.

雑誌

J Mol Diagn 19:487-497 (2017)
DOI:10.1016/j.jmoldx.2017.04.001

文献

著者

Turner JT, Cohen MM Jr, Biesecker LG

タイトル

Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.

雑誌

Am J Med Genet A 130A:111-22 (2004)
DOI:10.1002/ajmg.a.30327

文献

著者

Cohen MM Jr

タイトル

Proteus syndrome review: molecular, clinical, and pathologic features.

雑誌

Clin Genet 85:111-9 (2014)
DOI:10.1111/cge.12266

文献

著者

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

タイトル

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

雑誌

N Engl J Med 365:611-9 (2011)
DOI:10.1056/NEJMoa1104017

LinkDB

» English version

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