Details of Disease

General Information of Disease (ID: DISLC357)

Disease Name Jeune syndrome
Synonyms
ATD; asphyxiating thoracic dystrophy; infantile thoracic dystrophy; Jeune's syndrome; Chondroectodermal dysplasia-like syndrome; short-rib thoracic dysplasia with or without polydactyly; Jeune asphyxiating thoracic dystrophy; Asphyxiating Thoracic Dystrophy; Jeune syndrome; short-rib thoracic dysplasia; asphyxiating thoracic dystrophy of the newborn; thoracic pelvic phalangeal dystrophy; JATD
Definition
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Disease Hierarchy
DISZ75RJ: Inherited renal tubular disease
DISY2RES: Short rib-polydactyly syndrome
DIS10G4I: Ciliopathy
DISLC357: Jeune syndrome
Disease Identifiers
MONDO ID
MONDO_0018770
MESH ID
C537571
UMLS CUI
C0265275
MedGen ID
78548
Orphanet ID
474
SNOMED CT ID
75049004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 16 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR19 OTP5X5WA Supportive Autosomal recessive [1]
KIAA0753 OTMFT2I9 Limited Autosomal recessive [2]
CEP120 OT1ZMRHL Supportive Autosomal recessive [3]
DYNC2H1 OTLC8K6B Supportive Autosomal recessive [4]
DYNC2I1 OTFTWIT7 Supportive Autosomal recessive [5]
DYNC2I2 OTUVR2OO Supportive Autosomal recessive [6]
DYNC2LI1 OT1X5YGJ Supportive Autosomal recessive [7]
IFT140 OT6KO5FH Supportive Autosomal recessive [8]
IFT172 OT12DW08 Supportive Autosomal recessive [9]
IFT80 OTMH0MBI Supportive Autosomal recessive [10]
TTC21B OTXXA87U Supportive Autosomal recessive [11]
KIAA0586 OTOZRC1U moderate Biomarker [12]
CFAP410 OTJ94J99 Strong Genetic Variation [13]
CSPP1 OTNX7GD4 Strong Genetic Variation [14]
IFT81 OTB23T17 Strong Genetic Variation [15]
MATN3 OTH9H74J Strong Genetic Variation [15]
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⏷ Show the Full List of 16 DOT(s)

References

1 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.
2 A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. Eur J Med Genet. 2020 Apr;63(4):103823. doi: 10.1016/j.ejmg.2019.103823. Epub 2019 Dec 7.
3 A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30.
4 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.
5 Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1.
6 Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.
7 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16;6:7092. doi: 10.1038/ncomms8092.
8 Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.
9 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.
10 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
11 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23.
12 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.
13 Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19.
14 Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19.
15 Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.Hum Mutat. 2018 Oct;39(10):1456-1467. doi: 10.1002/humu.23605. Epub 2018 Aug 22.