KEGG DISEASE: Asphyxiating thoracic dystrophy

DISEASE: Asphyxiating thoracic dystrophy

Entry

H00751                      Disease

Name

Asphyxiating thoracic dystrophy;
Jeune syndrome

Supergrp

Short-rib thoracic dysplasia [DS:H02157]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00751  Asphyxiating thoracic dystrophy

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]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

» Japanese version

All links

Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (6)   
   PubMed (6)   
All databases (18)   

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