KEGG   DISEASE: 窒息性胸郭ジストロフィー
エントリ  
H00751                                                             
名称    
窒息性胸郭ジストロフィー;
ジューヌ症候群
  上位グループ
短肋骨胸郭異形成症 [DS:H02157]
概要    
Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and eyes. Patients have proximal cervical stenosis and severe respiratory insufficiency due to the skeletal abnormalities such as narrow thorax and short ribs.
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
    H00751  窒息性胸郭ジストロフィー
病因遺伝子 
(ATD2) IFT80 [HSA:57560] [KO:K19678]
(ATD3) DYNC2H1 [HSA:79659] [KO:K10414]
(ATD4) TTC21B [HSA:79809] [KO:K19673]
(ATD5) WDR19 [HSA:57728] [KO:K19671]
リンク   
ICD-11: LD24.B1
MeSH: C537571 C566982
OMIM: 611263 613091 613819 614376
文献    
PMID:19644333
  著者
Campbell RM Jr
  タイトル
Spine deformities in rare congenital syndromes: clinical issues.
  雑誌
Spine (Phila Pa 1976) 34:1815-27 (2009)
DOI:10.1097/BRS.0b013e3181ab64e9
文献    
PMID:21465651
  著者
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
  タイトル
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
  雑誌
Am J Med Genet A 155A:1021-32 (2011)
DOI:10.1002/ajmg.a.33892
文献    
PMID:17468754 (IFT80)
  著者
Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ
  タイトル
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
  雑誌
Nat Genet 39:727-9 (2007)
DOI:10.1038/ng2038
文献    
PMID:19442771 (DYNC2H1)
  著者
Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
  タイトル
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
  雑誌
Am J Hum Genet 84:706-11 (2009)
DOI:10.1016/j.ajhg.2009.04.016
文献    
PMID:21258341 (TTC21B)
  著者
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
  タイトル
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
  雑誌
Nat Genet 43:189-96 (2011)
DOI:10.1038/ng.756
文献    
PMID:22019273 (WDR19)
  著者
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
  タイトル
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
  雑誌
Am J Hum Genet 89:634-43 (2011)
DOI:10.1016/j.ajhg.2011.10.001
LinkDB    

» English version

DBGET integrated database retrieval system