Details of Disease | DrugMAP

General Information of Disease (ID: DISS6LAI)

Disease Name	Primary ciliary dyskinesia 2
Synonyms	ciliary dyskinesia, primary, 2, with or without situs inversus; ciliary dyskinesia, primary, 2; primary ciliary dyskinesia caused by mutation in DNAAF3; primary ciliary dyskinesia type 2; ciliary dyskinesia, primary, type 2; primary ciliary dyskinesia 2 with or without situs inversus; DNAAF3 primary ciliary dyskinesia; CILD2
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISS6LAI: Primary ciliary dyskinesia 2
Disease Identifiers	MONDO ID MONDO_0011718 MESH ID C535277 UMLS CUI C1847554 OMIM ID 606763 MedGen ID 338258

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
DNAAF3	OT3OHO0O	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.