Details of Disease | DrugMAP

General Information of Disease (ID: DISBXA78)

Disease Name	Primary ciliary dyskinesia 34
Synonyms	ciliary dyskinesia, primary, 34, without situs inversus; primary ciliary dyskinesia caused by mutation in DNAJB13; DNAJB13 primary ciliary dyskinesia; primary ciliary dyskinesia type 34; ciliary dyskinesia, primary, type 34; ciliary dyskinesia, primary, 34; CILD34; primary ciliary dyskinesia 34 without situs inversus
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISBXA78: Primary ciliary dyskinesia 34
Disease Identifiers	MONDO ID MONDO_0014909 UMLS CUI C4310722 OMIM ID 617091 MedGen ID 934689

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
DNAJB13	OT264P6X	Strong	Autosomal recessive	[1]
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References

1	Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.