| H00751 | |
| H番号 | H00751 |
| 名称 | 窒息性胸郭ジストロフィー; ジューヌ症候群 |
| 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.B1 ICD-10: Q77.2 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 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 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 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 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 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 |