Details of Disease

General Information of Disease (ID: DIS115TB)

Disease Name Asphyxiating thoracic dystrophy 2
Synonyms
asphyxiating thoracic dystrophy type 2; ATD2; IFT80 Jeune syndrome; short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2; asphyxiating thoracic dystrophy 2; Jeune syndrome caused by mutation in IFT80
Definition Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.
Disease Hierarchy
DISLC357: Jeune syndrome
DIS115TB: Asphyxiating thoracic dystrophy 2
Disease Identifiers
MONDO ID
MONDO_0012644
MESH ID
C566982
UMLS CUI
C1970005
OMIM ID
611263
MedGen ID
370804

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
IFT80 OTMH0MBI Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 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.