Details of Disease | DrugMAP

General Information of Disease (ID: DISHNOT3)

Disease Name	Primary ciliary dyskinesia 21
Synonyms	ciliary dyskinesia, primary, 21; ciliary dyskinesia, primary, 21, without situs inversus; primary ciliary dyskinesia type 21; ciliary dyskinesia, primary, type 21; primary ciliary dyskinesia caused by mutation in DRC1; CILD21; primary ciliary dyskinesia 21 without situs inversus; DRC1 primary ciliary dyskinesia
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISHNOT3: Primary ciliary dyskinesia 21
Disease Identifiers	MONDO ID MONDO_0014123 UMLS CUI C3809087 OMIM ID 615294 MedGen ID 815417

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
DRC1	OT7WLL0X	Strong	Autosomal recessive	[1]
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References

1	Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population. Mol Genet Genomic Med. 2020 Mar;8(3):e1137. doi: 10.1002/mgg3.1137. Epub 2020 Jan 20.