KEGG   DISEASE: H00751Help
Entry
H00751                      Disease                                

Name
Asphyxiating thoracic dystrophy;
Jeune syndrome
Description
Jeune syndrome or asphyxiating thoracic dystrophy 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
Skeletal dysplasia
BRITE hierarchy
Pathway
Phagosome
Vasopressin-regulated water reabsorption
Gene
WDR19 [HSA:57728]
DYNC2H1 [HSA:79659] [KO:K10414]
TTC21B [HSA:79809]
Other DBs
Reference
PMID:19644333 (descritpion)
  Authors
Campbell RM Jr
  Title
Spine deformities in rare congenital syndromes: clinical issues.
  Journal
Spine (Phila Pa 1976) 34:1815-27 (2009)
Reference
PMID:21465651 (descritpion)
  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)
Reference
PMID:22019273 (gene)
  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)
Reference
PMID:19442771 (gene)
  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)
Reference
PMID:21258341 (gene)
  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)

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