Details of Disease

General Information of Disease (ID: DISDAJNA)

Disease Name Primary ciliary dyskinesia 11
Synonyms
ciliary dyskinesia, primary, 11; ciliary dyskinesia, primary, 11, without situs inversus; primary ciliary dyskinesia 11 without situs inversus; primary ciliary dyskinesia caused by mutation in RSPH4A; RSPH4A primary ciliary dyskinesia; ciliary dyskinesia, primary, type 11; CILD11; primary ciliary dyskinesia type 11; primary ciliary dyskinesia 11
Definition Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DISDAJNA: Primary ciliary dyskinesia 11
Disease Identifiers
MONDO ID
MONDO_0012978
MESH ID
C567212
UMLS CUI
C2675229
OMIM ID
612649
MedGen ID
390741

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
RSPH4A OTNDPGEE 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.