KEGG   DISEASE: Short-rib thoracic dysplasia
H02157                      Disease                                

Short-rib thoracic dysplasia
Asphyxiating thoracic dystrophy [DS:H00751]
Short rib-polydactyly syndrome [DS:H00511]
Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia play a vital role in transduction of signals in the hedgehog pathway that is especially important in skeletal development.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02157  Short-rib thoracic dysplasia
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
    H02157  Short-rib thoracic dysplasia
(SRTD2) IFT80 [HSA:57560] [KO:K19678]
(SRTD3) DYNC2H1 [HSA:79659] [KO:K10414]
(SRTD4) TTC21B [HSA:79809] [KO:K19673]
(SRTD5) WDR19 [HSA:57728] [KO:K19671]
(SRTD6) NEK1 [HSA:4750] [KO:K08857]
(SRTD7) WDR35 [HSA:57539] [KO:K19674]
(SRTD8) WDR60 [HSA:55112] [KO:K22869]
(SRTD9) IFT140 [HSA:9742] [KO:K19672]
(SRTD10) IFT172 [HSA:26160] [KO:K19676]
(SRTD11) WDR34 [HSA:89891] [KO:K22868]
(SRTD13) CEP120 [HSA:153241] [KO:K16459]
(SRTD14) JBTS23 [HSA:9786] [KO:K22865]
(SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417]
(SRTD16) IFT52 [HSA:51098] [KO:K19681]
(SRTD17) TCTEX1D2 [HSA:255758] [KO:K22866]
(SRTD18) IFT43 [HSA:112752] [KO:K19675]
(SRTD19) IFT81 [HSA:28981] [KO:K19677]
(SRTD20) INTU [HSA:27152] [KO:K22862]
Other DBs
ICD-11: LD24.BY
ICD-10: Q77.2
MeSH: D012779 C537599 C537571
OMIM: 208500 611263 613091 613819 614376 263520 614091 613602 615503 266920 615630 615633 616300 616546 617088 617102 617405 617866 617895 617925
Huber C, Cormier-Daire V
Ciliary disorder of the skeleton.
Am J Med Genet C Semin Med Genet 160C:165-74 (2012)
Schmidts M, Vodopiutz J, Christou-Savina S, Cortes CR, McInerney-Leo AM, Emes RD, Arts HH, Tuysuz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elcioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C, Duncan EL, Mitchison HM
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet 93:932-44 (2013)
Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschke P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attie-Bitach T, Thomas S
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet 97:311-8 (2015)
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Hum Mol Genet 24:1410-9 (2015)
Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun 6:7074 (2015)

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