KEGG   DISEASE: Geleophysic dysplasia
エントリ  
H00900                                                             
名称    
Geleophysic dysplasia
概要    
Geleophysic dysplasia (GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.
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
   LD24  主な特徴として骨格の異常を伴う症候群
    H00900  Geleophysic dysplasia
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06507  TGFB シグナリング
   H00900  Geleophysic dysplasia
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H00900  Geleophysic dysplasia
パスウェイ 
hsa04350  TGF-beta signaling pathway
hsa04820  Cytoskeleton in muscle cells
ネットワーク
nt06507 TGFB signaling
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
(GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430]
(GPHYSD2) FBN1 [HSA:2200] [KO:K06825]
(GPHYSD3) LTBP3 [HSA:4054] [KO:K08023]
リンク   
ICD-11: LD24.8Y
MeSH: C535662
OMIM: 231050 614185 617809
文献    
PMID:6507495
  著者
Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM
  タイトル
Geleophysic dysplasia.
  雑誌
Am J Med Genet 19:487-99 (1984)
DOI:10.1002/ajmg.1320190310
文献    
PMID:21415077 (ADAMTSL2)
  著者
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Genevieve D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbane A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V
  タイトル
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
  雑誌
J Med Genet 48:417-21 (2011)
DOI:10.1136/jmg.2010.087544
文献    
PMID:21683322 (FBN1)
  著者
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
  タイトル
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
  雑誌
Am J Hum Genet 89:7-14 (2011)
DOI:10.1016/j.ajhg.2011.05.012
文献    
PMID:27068007 (LTBP3)
  著者
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V
  タイトル
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
  雑誌
J Med Genet 53:457-64 (2016)
DOI:10.1136/jmedgenet-2015-103647
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