primary ciliary dyskinesia 21

Summary
Synonym
  • CILD21
  • primary ciliary dyskinesia 21 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
Super Class
primary ciliary dyskinesia
Disease Ontology
DOID:0110596
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
92749 DRC1 dynein regulatory complex subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
381738 Drc1 dynein regulatory complex subunit 1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 40 in total
HPO ID HPO Term
HP:0001669 Transposition of the great arteries
HP:0006536 Airway obstruction
HP:0002119 Ventriculomegaly
HP:0012206 Abnormal sperm motility
HP:0011617 Pulmonary situs ambiguus
HP:0100582 Nasal polyposis
HP:0011539 Atrial situs ambiguous
HP:0030680 Abnormal cardiovascular system morphology
HP:0100750 Atelectasis
HP:0011947 Respiratory tract infection
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