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Disease Profile
Primary ciliary dyskinesia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Neonatal
ICD-10
Q34.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Ciliary dyskinesia primary; Polynesian bronchiectasis; Immotile cilia syndrome;
Categories
Congenital and Genetic Diseases; Lung Diseases; Male Reproductive Diseases;
Summary
Primary ciliary dyskinesia (PCD) is an
PCD is caused by
Symptoms
About 50% of people with PCD will have abnormalities in the placement of their body
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal sperm motility | 0012206 | |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Chronic rhinitis | 0002257 | |
Chronic sinusitis | 0011109 | |
Male infertility | 0003251 | |
Nasal obstruction |
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose
[ more ] |
0001742 |
Nasal polyposis | 0100582 | |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Productive cough |
Wet cough
|
0031245 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent sinopulmonary infections |
Recurrent sinus and lung infections
|
0005425 |
5%-29% of people have these symptoms | ||
Atelectasis |
Partial or complete collapse of part or entire lung
|
0100750 |
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Clubbing |
Clubbing of fingers and toes
|
0001217 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Ectopic pregnancy | 0031456 | |
Female infertility | 0008222 | |
Lithoptysis | 0032543 | |
Peribronchovascular interstitial thickening | 0025177 | |
Pulmonary obstruction |
Obstructive lung disease
|
0006536 |
Pulmonary situs ambiguus | 0011617 | |
Recurrent mycobacterial infections | 0011274 | |
Situs inversus totalis |
All organs on wrong side of body
|
0001696 |
Wheezing | 0030828 | |
1%-4% of people have these symptoms | ||
Abnormal inferior vena cava morphology | 0025576 | |
Anomalous pulmonary venous return | 0010772 | |
Asplenia |
Absent spleen
|
0001746 |
Atrial situs ambiguous | 0011539 | |
Double outlet right ventricle | 0001719 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Intestinal malrotation | 0002566 | |
Persistent left superior vena cava | 0005301 | |
Polysplenia |
Multiple small spleens
|
0001748 |
Respiratory failure | 0002878 | |
Rod-cone dystrophy | 0000510 | |
Transposition of the great arteries | 0001669 | |
Ventriculomegaly | 0002119 |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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The main differential diagnoses are cystic fibrosis, immunodeficiency syndromes and gastroesophageal reflux. Additionally, PCD has been noted in patients with Cri du chat syndrome due to the common locus on chromosome 5p. Segmental deletion of chromosome 5p in Cri du chat syndrome usually includes PCD-associated gene DNAH5 and the pathogenic variant in the remaining allele of DNAH5 renders it to PCD.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Primary Ciliary Dyskinesia (PCD) Foundation
10137 Portland Avenue South
Minneapolis, MN 55420
Toll-free: 1-844-CURE-PCD (1-844-287-3723)
E-mail: [email protected]
Website: https://www.pcdfoundation.org
Organizations Providing General Support
-
American Lung Association
55 W. Wacker Drive, Suite 1150
Chicago, IL 60601
Toll-free: 1-800-548-8252 (1-800-LUNGUSA)
E-mail: [email protected]
Website: https://www.lung.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The American Lung Association has information about Primary ciliary dyskinesia.
- Genetics Home Reference (GHR) contains information on Primary ciliary dyskinesia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Primary ciliary dyskinesia in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Primary ciliary dyskinesia. Click on the link to view a sample search on this topic.
References
- Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. Updated Sept 3, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1122/.
- Primary ciliary dyskinesia. Genetics Home Reference (GHR). Updated Apr 2014; https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
- Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD). Updated 2015; https://rarediseases.org/rare-diseases/primary-ciliary-dyskinesia/.
- Sharpiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel, SD, et al. (The Genetic Disorders of Mucociliary Clearance Consortium). Diagnosis, Monitoring, and Treatment of Primary Ciliary Dyskinesia: PCD Foundation Consensus Recommendations Based on State of the Art Review. Pedia Pulmon. 2016; 51:115-132. https://onlinelibrary.wiley.com/doi/epdf/10.1002/ppul.23304.
- Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: An update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr. Jun 2017; 5:135. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465251/.
- Knowles M, Zariwala MA, Leigh M. Primary ciliary dyskinesia. Clin Chest Med. 2016; 37(3):449-461. https://www.ncbi.nlm.nih.gov/pubmed/27514592.
- Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; https://www.ncbi.nlm.nih.gov/books/NBK1122/. Accessed 3/15/2011.
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