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primary ciliary dyskinesia 1
Summary
- Synonym
-
- CILD1
- primary ciliary dyskinesia 1 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110594
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8C0M8 | Dynein axonemal intermediate chain 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0002110 | Bronchiectasis |
| HP:0001627 | Abnormal heart morphology |
| HP:0011109 | Chronic sinusitis |
| HP:0100582 | Nasal polyposis |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0011617 | Pulmonary situs ambiguus |
| HP:0003251 | Male infertility |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0012206 | Abnormal sperm motility |
