KEGG   DISEASE: Asphyxiating thoracic dystrophyHelp
H00751                      Disease                                

Asphyxiating thoracic dystrophy;
Jeune syndrome
Asphyxiating thoracic dystrophy (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.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00751  Asphyxiating thoracic dystrophy
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q77  Osteochondrodysplasia with defects of growth of tubular bones and spine
    H00751  Asphyxiating thoracic dystrophy
BRITE hierarchy
hsa04145  Phagosome
hsa04962  Vasopressin-regulated water reabsorption
IFT80 [HSA:57560] [KO:K19678]
WDR19 [HSA:57728] [KO:K19671]
DYNC2H1 [HSA:79659] [KO:K10414]
TTC21B [HSA:79809] [KO:K19673]
Other DBs
ICD-10: Q77.2
MeSH: C537571 C566982 C567761
OMIM: 611263 613091 613819
PMID:19644333 (descritpion)
Campbell RM Jr
Spine deformities in rare congenital syndromes: clinical issues.
Spine (Phila Pa 1976) 34:1815-27 (2009)
PMID:21465651 (descritpion)
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
Am J Med Genet A 155A:1021-32 (2011)
PMID:17468754 (gene)
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
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Nat Genet 39:727-9 (2007)
PMID:22019273 (gene)
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
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
Am J Hum Genet 89:634-43 (2011)
PMID:19442771 (gene)
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
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Am J Hum Genet 84:706-11 (2009)
PMID:21258341 (gene)
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
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Nat Genet 43:189-96 (2011)

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