Details of Disease

General Information of Disease (ID: DIS3VMKH)

Disease Name Ciliary dyskinesia, primary, 36, X-linked
Synonyms
ciliary dyskinesia, primary, 36, with or without situs inversus; ciliary dyskinesia, primary, 36, X-linked; CILD36; PIH1D3 primary ciliary dyskinesia; primary ciliary dyskinesia caused by mutation in PIH1D3; CILD36; ciliary dyskinesia, primary, 36, X-linked, X-linked recessive; ciliary dyskinesia, primary, 36, X-linked
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS3VMKH: Ciliary dyskinesia, primary, 36, X-linked
Disease Identifiers
MONDO ID
MONDO_0010517
UMLS CUI
C4478372
OMIM ID
300991
MedGen ID
1393107

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
DNAAF6 OT7AT26M Strong X-linked [1]
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References

1 Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet. 2017 Jan 5;100(1):160-168. doi: 10.1016/j.ajhg.2016.11.019. Epub 2016 Dec 29.