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Ciliary dyskinesia, primary, 13(CILD13)

MedGen UID:
413399
Concept ID:
C2750790
Disease or Syndrome
Synonyms: CILD13; CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia; Primary Ciliary Dyskinesia13: DNAAF1-Related Primary Ciliary Dyskinesia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): DNAAF1 (16q24.1)
OMIM®: 613193

Disease characteristics

Excerpted from the GeneReview: Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease. More than 75% of full-term neonates with PCD have ‘neonatal respiratory distress’ requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 40%-50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility. [from GeneReviews]
Authors:
Maimoona A Zariwala  |  Michael R Knowles  |  Margaret W Leigh   view full author information

Additional description

From GHR
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.  http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia

Clinical features

Situs inversus viscerum
MedGen UID:
52359
Concept ID:
C0037221
Congenital Abnormality
A left-right reversal (or \
Infertility
MedGen UID:
43876
Concept ID:
C0021359
Finding
Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs or surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi.
Primary ciliary dyskinesia
MedGen UID:
3467
Concept ID:
C0008780
Disease or Syndrome
Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease. More than 75% of full-term neonates with PCD have ‘neonatal respiratory distress’ requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 40%-50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Absent inner dynein arms
MedGen UID:
868589
Concept ID:
C4022988
Finding
Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Absent outer dynein arms
MedGen UID:
868590
Concept ID:
C4022989
Finding
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.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.

Recent clinical studies

Etiology

Yiallouros PK, Kouis P, Middleton N, Nearchou M, Adamidi T, Georgiou A, Eleftheriou A, Ioannou P, Hadjisavvas A, Kyriacou K
Respir Med 2015 Mar;109(3):347-56. Epub 2015 Jan 31 doi: 10.1016/j.rmed.2015.01.015. [Epub ahead of print] PMID: 25698650
Maglione M, Bush A, Nielsen KG, Hogg C, Montella S, Marthin JK, Di Giorgio A, Santamaria F
Pediatr Pulmonol 2014 Dec;49(12):1243-50. Epub 2014 Jan 13 doi: 10.1002/ppul.22984. [Epub ahead of print] PMID: 24420929
Horani A, Brody SL, Ferkol TW
Pediatr Res 2014 Jan;75(1-2):158-64. Epub 2013 Nov 5 doi: 10.1038/pr.2013.200. [Epub ahead of print] PMID: 24192704Free PMC Article
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238
Degano B, Valmary S, Serrano E, Brousset P, Arnal JF
Hum Pathol 2011 Dec;42(12):1855-61. Epub 2011 Jun 12 doi: 10.1016/j.humpath.2011.01.027. [Epub ahead of print] PMID: 21663943

Diagnosis

Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M
Am J Hum Genet 2015 Jul 2;97(1):153-62. Epub 2015 Jun 11 doi: 10.1016/j.ajhg.2015.05.004. [Epub ahead of print] PMID: 26073779Free PMC Article
Yiallouros PK, Kouis P, Middleton N, Nearchou M, Adamidi T, Georgiou A, Eleftheriou A, Ioannou P, Hadjisavvas A, Kyriacou K
Respir Med 2015 Mar;109(3):347-56. Epub 2015 Jan 31 doi: 10.1016/j.rmed.2015.01.015. [Epub ahead of print] PMID: 25698650
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM
Hum Mol Genet 2014 Jul 1;23(13):3362-74. Epub 2014 Feb 11 doi: 10.1093/hmg/ddu046. [Epub ahead of print] PMID: 24518672Free PMC Article
Horani A, Brody SL, Ferkol TW
Pediatr Res 2014 Jan;75(1-2):158-64. Epub 2013 Nov 5 doi: 10.1038/pr.2013.200. [Epub ahead of print] PMID: 24192704Free PMC Article
Papon JF, Bassinet L, Cariou-Patron G, Zerah-Lancner F, Vojtek AM, Blanchon S, Crestani B, Amselem S, Coste A, Housset B, Escudier E, Louis B
Orphanet J Rare Dis 2012 Oct 11;7:78. doi: 10.1186/1750-1172-7-78. [Epub ahead of print] PMID: 23057704Free PMC Article

Therapy

Guan WJ, Gao YH, Xu G, Lin ZY, Tang Y, Li HM, Lin ZM, Zheng JP, Chen RC, Zhong NS
Respirology 2015 Jul;20(5):739-48. Epub 2015 Mar 26 doi: 10.1111/resp.12528. [Epub ahead of print] PMID: 25819403
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM
Hum Mol Genet 2014 Jul 1;23(13):3362-74. Epub 2014 Feb 11 doi: 10.1093/hmg/ddu046. [Epub ahead of print] PMID: 24518672Free PMC Article
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238
Prulière-Escabasse V, Coste A, Chauvin P, Fauroux B, Tamalet A, Garabedian EN, Escudier E, Roger G
Arch Otolaryngol Head Neck Surg 2010 Nov;136(11):1121-6. doi: 10.1001/archoto.2010.183. PMID: 21079168Free PMC Article
Jorissen M, Willems T
Acta Otolaryngol 2004 May;124(4):527-31. PMID: 15224888

Prognosis

Yiallouros PK, Kouis P, Middleton N, Nearchou M, Adamidi T, Georgiou A, Eleftheriou A, Ioannou P, Hadjisavvas A, Kyriacou K
Respir Med 2015 Mar;109(3):347-56. Epub 2015 Jan 31 doi: 10.1016/j.rmed.2015.01.015. [Epub ahead of print] PMID: 25698650
Horani A, Brody SL, Ferkol TW
Pediatr Res 2014 Jan;75(1-2):158-64. Epub 2013 Nov 5 doi: 10.1038/pr.2013.200. [Epub ahead of print] PMID: 24192704Free PMC Article
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
Hum Mutat 2013 Mar;34(3):462-72. Epub 2013 Feb 11 doi: 10.1002/humu.22261. PMID: 23255504Free PMC Article
Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P
Pediatr Pulmonol 2012 Sep;47(9):864-75. Epub 2012 Mar 13 doi: 10.1002/ppul.22520. [Epub ahead of print] PMID: 22416021

Clinical prediction guides

Yiallouros PK, Kouis P, Middleton N, Nearchou M, Adamidi T, Georgiou A, Eleftheriou A, Ioannou P, Hadjisavvas A, Kyriacou K
Respir Med 2015 Mar;109(3):347-56. Epub 2015 Jan 31 doi: 10.1016/j.rmed.2015.01.015. [Epub ahead of print] PMID: 25698650
Maglione M, Bush A, Nielsen KG, Hogg C, Montella S, Marthin JK, Di Giorgio A, Santamaria F
Pediatr Pulmonol 2014 Dec;49(12):1243-50. Epub 2014 Jan 13 doi: 10.1002/ppul.22984. [Epub ahead of print] PMID: 24420929
Horani A, Brody SL, Ferkol TW
Pediatr Res 2014 Jan;75(1-2):158-64. Epub 2013 Nov 5 doi: 10.1038/pr.2013.200. [Epub ahead of print] PMID: 24192704Free PMC Article
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238
Alsaadi MM, Habib SS, Al Muqhem BA, Aldrees A, Al Zamil JF, Alsadoon HA
Saudi Med J 2013 Jan;34(1):24-8. PMID: 23299155

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