Details of Disease | DrugMAP

General Information of Disease (ID: DISGOZX0)

Disease Name	Primary ciliary dyskinesia 33
Synonyms	ciliary dyskinesia, primary, 33, without situs inversus; primary ciliary dyskinesia type 33; primary ciliary dyskinesia caused by mutation in GAS8; primary ciliary dyskinesia 33 without situs inversus; CILD33; GAS8 primary ciliary dyskinesia; ciliary dyskinesia, primary, 33; ciliary dyskinesia, primary, type 33
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISGOZX0: Primary ciliary dyskinesia 33
Disease Identifiers	MONDO ID MONDO_0014750 UMLS CUI C4225230 OMIM ID 616726 MedGen ID 898734

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
GAS8	OT8KT2AK	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17.