Phenotypes associated with the disease ciliary dyskinesia, primary, 40 (OMIM:618300):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/4. (PMID:30471717)
- Chronic rhinitis (HP:0002257): Chronic inflammation of the nasal mucosa. Evidence: PCS. Frequency: 4/4. (PMID:30471717)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 7/9. (PMID:30471717;PMID:30471718)
- Decreased nasal nitric oxide (HP:0033036): Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Reduced respiratory ciliary beating frequency (HP:0033158): An abnormal reduction in the number of beats per unit time of the respiratory cilia. Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 4/4. (PMID:30471717)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. Frequency: 4/4. (PMID:30471717)
- Left Isomerism (HP:0031854): A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. Evidence: PCS. Frequency: 1/5. (PMID:30471718)
- Unbalanced atrioventricular canal defect (HP:0011579): Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Absent outer dynein arms (HP:0012256): Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. Evidence: PCS. Frequency: 1/1. (PMID:30471718)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Levotransposition of the great arteries (HP:0011540): Congenitally corrected transposition of the great arteries (ccTGA) is a discordance of atrioventricular (AV) and ventriculoarterial connections. The anatomy of ccTGA involves systemic venous drainage to the morphologic right atrium (mRA), which is connected via the mitral valve to the morphologic left ventricle (mLV) whose outflow is the pulmonary arterial system. The pulmonary venous drainage arrives at the morphologic left atrium (mLA), which crosses the tricuspid valve into the morphologic right ventricle (mRV) with outflow into the systemic arterial system. In isolation, ccTGA has an in-series circulation without mixing; therefore, the presence or absence of associated defects dictates the patient's clinical presentation. Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Interrupted inferior vena cava with azygous continuation (HP:0011671): Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. Evidence: PCS. Frequency: 1/5. (PMID:30471718)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/5. (PMID:30471718)
- Reduced forced expiratory volume in one second (HP:0032342): An abnormal reduction in the amount of air a person can forcefully expel in one second. Evidence: PCS. Frequency: 1/4. (PMID:30471717)
- Infertility (HP:0000789). Evidence: PCS. Frequency: 1/1. (PMID:30471717)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:30471717)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 1/5. (PMID:30471718)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 1/5. (PMID:30471718)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 1/1. (PMID:30471717)