Details of Disease

General Information of Disease (ID: DISCKBCE)

Disease Name Asphyxiating thoracic dystrophy 5
Synonyms
asphyxiating thoracic dystrophy 5; WDR19 Jeune syndrome; short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5; Jeune syndrome caused by mutation in WDR19; ATD5; asphyxiating thoracic dystrophy type 5
Definition Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.
Disease Hierarchy
DISLC357: Jeune syndrome
DISCKBCE: Asphyxiating thoracic dystrophy 5
Disease Identifiers
MONDO ID
MONDO_0013717
UMLS CUI
C3280598
OMIM ID
614376
MedGen ID
482228

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR19 OTP5X5WA Definitive Autosomal recessive [1]
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References

1 Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 2010 Jan;169(1):77-88. doi: 10.1007/s00431-009-0991-3. Epub 2009 May 10.