Details of Disease

General Information of Disease (ID: DIS4MDWP)

Disease Name Primary ciliary dyskinesia 25
Synonyms
ciliary dyskinesia, primary, 25, with or without situs inversus; ciliary dyskinesia, primary, 25; CILD25; primary ciliary dyskinesia caused by mutation in DNAAF4; ciliary dyskinesia, primary, type 25; DNAAF4 primary ciliary dyskinesia; primary ciliary dyskinesia 25 with or without situs inversus; primary ciliary dyskinesia type 25
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS4MDWP: Primary ciliary dyskinesia 25
Disease Identifiers
MONDO ID
MONDO_0014203
UMLS CUI
C3809641
OMIM ID
615482
MedGen ID
815971

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
DNAAF4 OTVDYBJE Strong Autosomal recessive [1]
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References

1 DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.