Details of Disease | DrugMAP

General Information of Disease (ID: DISHG9AM)

Disease Name	Primary ciliary dyskinesia 32
Synonyms	ciliary dyskinesia, primary, 32; ciliary dyskinesia, primary, 32, without situs inversus; RSPH3 primary ciliary dyskinesia; ciliary dyskinesia, primary, type 32; primary ciliary dyskinesia caused by mutation in RSPH3; primary ciliary dyskinesia type 32; primary ciliary dyskinesia 32 without situs inversus; CILD32
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISHG9AM: Primary ciliary dyskinesia 32
Disease Identifiers	MONDO ID MONDO_0014657 UMLS CUI C4225311 OMIM ID 616481 MedGen ID 896106

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
RSPH3	OTDPCNYN	Strong	Autosomal recessive	[1]
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References

1	RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.