Details of Disease | DrugMAP

General Information of Disease (ID: DIS1LLRC)

Disease Name	Primary ciliary dyskinesia 16
Synonyms	ciliary dyskinesia, primary, 16; ciliary dyskinesia, primary, 16, with or without situs inversus; primary ciliary dyskinesia caused by mutation in DNAL1; primary ciliary dyskinesia type 16; DNAL1 primary ciliary dyskinesia; primary ciliary dyskinesia 16 with or without situs inversus; ciliary dyskinesia, primary, type 16; CILD16
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DIS1LLRC: Primary ciliary dyskinesia 16
Disease Identifiers	MONDO ID MONDO_0013525 UMLS CUI C3151460 OMIM ID 614017 MedGen ID 462810

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
DNAL1	OTU5AWIS	Strong	Autosomal recessive	[1]
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References

1	Co-detection of chimeric bcr/abl (target) and beta-actin (control) messenger RNA in individual CFU-GM colonies derived from CML patients using the polymerase chain reaction. Leuk Res. 1991;15(9):867-74. doi: 10.1016/0145-2126(91)90471-5.