primary ciliary dyskinesia 28

Summary
Synonym
  • CILD28
  • primary ciliary dyskinesia 28 with or without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
Super Class
primary ciliary dyskinesia
Disease Ontology
DOID:0110607
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6674 SPAG1 sperm associated antigen 1
The Human Phenotype Ontology
Displaying entries 41 - 48 of 48 in total
HPO ID HPO Term
HP:0011108 Recurrent sinusitis
HP:0200073 Respiratory insufficiency due to defective ciliary clearance
HP:0012265 Ciliary dyskinesia
HP:0000007 Autosomal recessive inheritance
HP:0012255 Dynein arm defect of respiratory motile cilia
HP:0002205 Recurrent respiratory infections
HP:0012384 Rhinitis
HP:0004469 Chronic bronchitis
Displaying 1 entry
Gene ID Gene Symbol Description
6674 SPAG1 sperm associated antigen 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024