Details of Disease | DrugMAP

General Information of Disease (ID: DISEPPON)

Disease Name	Ciliary dyskinesia, primary, 45
Synonyms	CILIARY DYSKINESIA, PRIMARY, 45; CILD45; Ciliary Dyskinesia, Primary, 45, Without Situs Inversus
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISEPPON: Ciliary dyskinesia, primary, 45
Disease Identifiers	MONDO ID MONDO_0032924 UMLS CUI C5394104 OMIM ID 618801 MedGen ID 1714988

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
TTC12	OTDB24YV	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. Am J Hum Genet. 2020 Feb 6;106(2):153-169. doi: 10.1016/j.ajhg.2019.12.010. Epub 2020 Jan 23.