Details of Disease

General Information of Disease (ID: DISFKLBY)

Disease Name Short-rib thoracic dysplasia 11 with or without polydactyly
Synonyms short-rib thoracic dysplasia 11 with or without polydactyly; SRTD11
Definition An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
Disease Hierarchy
DISLC357: Jeune syndrome
DISFKLBY: Short-rib thoracic dysplasia 11 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0014287
UMLS CUI
C3810200
OMIM ID
615633
MedGen ID
816530

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
DYNC2I2 OTUVR2OO Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-B pathway in cilia. Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31.