H00751 | |
H number | H00751 |
Name | Asphyxiating thoracic dystrophy; Jeune syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | (ATD2) IFT80 [HSA:57560] [KO:K19678] (ATD3) DYNC2H1 [HSA:79659] [KO:K10414] (ATD4) TTC21B [HSA:79809] [KO:K19673] (ATD5) WDR19 [HSA:57728] [KO:K19671] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.B1 ICD-10: Q77.2 MeSH: C537571 C566982 OMIM: 611263 613091 613819 614376 |
Reference | PMID:19644333 AUTHORS Campbell RM Jr TITLE Spine deformities in rare congenital syndromes: clinical issues. JOURNAL Spine (Phila Pa 1976) 34:1815-27 (2009) DOI:10.1097/BRS.0b013e3181ab64e9 PMID:21465651 AUTHORS Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC TITLE Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). JOURNAL Am J Med Genet A 155A:1021-32 (2011) DOI:10.1002/ajmg.a.33892 PMID:17468754 (IFT80) AUTHORS 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 TITLE IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. JOURNAL Nat Genet 39:727-9 (2007) DOI:10.1038/ng2038 PMID:19442771 (DYNC2H1) AUTHORS 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 TITLE DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. JOURNAL Am J Hum Genet 84:706-11 (2009) DOI:10.1016/j.ajhg.2009.04.016 PMID:21258341 (TTC21B) AUTHORS 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 TITLE TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. JOURNAL Nat Genet 43:189-96 (2011) DOI:10.1038/ng.756 PMID:22019273 (WDR19) AUTHORS 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 TITLE Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19. JOURNAL Am J Hum Genet 89:634-43 (2011) DOI:10.1016/j.ajhg.2011.10.001 |