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Ciliary dyskinesia, primary, 3(CILD3)

MedGen UID:
325210
Concept ID:
C1837618
Disease or Syndrome
Synonyms: CILD3; Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
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).
 
Gene (location): DNAH5 (5p15.2)
 
Monarch Initiative: MONDO:0012085
OMIM®: 608644

Definition

Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by Afzelius, 1976; El Zein et al., 2003). [from OMIM]

Additional description

From MedlinePlus Genetics
Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\n\nAnother 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.\n\nPrimary 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.\n\nApproximately 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.\n\nSome 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.\n\nIn 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.\n\nPrimary 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.  https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia

Clinical features

From HPO
Situs inversus totalis
MedGen UID:
1642262
Concept ID:
C4551493
Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
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.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Primary ciliary dyskinesia
MedGen UID:
3467
Concept ID:
C0008780
Disease or Syndrome
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.\n\nIn 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.\n\nSome 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.\n\nApproximately 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.\n\nPrimary 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.\n\nAnother 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.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
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.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.

Term Hierarchy

Recent clinical studies

Etiology

Singer F, Schlegtendal A, Nyilas S, Vermeulen F, Boon M, Koerner-Rettberg C
Thorax 2021 Jul;76(7):681-688. Epub 2021 Jan 27 doi: 10.1136/thoraxjnl-2020-215504. PMID: 33504569
Sherman F, Wodrich M, Zampi JD, Lee J, McCaffery H, Saba TG
Pediatr Pulmonol 2020 Oct;55(10):2674-2682. Epub 2020 Jul 31 doi: 10.1002/ppul.24959. PMID: 32662935
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
Hannah WB, Truty R, Gonzales V, Kithcart GP, Ouyang K, Zeman MK, Li C, Drumm M, Nykamp K, Gaston BM
J Pediatr 2019 Dec;215:172-177.e2. Epub 2019 Oct 11 doi: 10.1016/j.jpeds.2019.08.039. PMID: 31610925
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503

Diagnosis

Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT
Pediatr Pulmonol 2021 Aug;56(8):2717-2723. Epub 2021 Jun 21 doi: 10.1002/ppul.25533. PMID: 34133086
Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY
Yonsei Med J 2021 Mar;62(3):224-230. doi: 10.3349/ymj.2021.62.3.224. PMID: 33635012Free PMC Article
Singer F, Schlegtendal A, Nyilas S, Vermeulen F, Boon M, Koerner-Rettberg C
Thorax 2021 Jul;76(7):681-688. Epub 2021 Jan 27 doi: 10.1136/thoraxjnl-2020-215504. PMID: 33504569
Fassad MR, Shoman WI, Morsy H, Patel MP, Radwan N, Jenkins L, Cullup T, Fouda E, Mitchison HM, Fasseeh N
Clin Genet 2020 Mar;97(3):509-515. Epub 2019 Dec 5 doi: 10.1111/cge.13661. PMID: 31650533
McCormick JP, Weeks CG, Rivers NJ, Owen JD, Kelly DR, Rowe SM, Solomon GM, Woodworth BA, Cho DY
Int Forum Allergy Rhinol 2019 Dec;9(12):1430-1435. Epub 2019 Aug 20 doi: 10.1002/alr.22414. PMID: 31430425Free PMC Article

Therapy

Singer F, Schlegtendal A, Nyilas S, Vermeulen F, Boon M, Koerner-Rettberg C
Thorax 2021 Jul;76(7):681-688. Epub 2021 Jan 27 doi: 10.1136/thoraxjnl-2020-215504. PMID: 33504569
Bingol I, Gokdemir Y, Yilmaz-Yegit C, Ergenekon P, Atag E, Bas Ikizoglu N, Erdem Eralp E, Evkaya A, Gencer K, Saygi EK, Karakoc F, Ersu R, Karadag B
Pediatr Pulmonol 2020 Dec;55(12):3414-3420. Epub 2020 Oct 22 doi: 10.1002/ppul.25099. PMID: 32997437
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Moser CE, Quittner AL, Raidt J, Rosthøj S, Sørensen AL, Thomsen K, Werner C, Omran H, Nielsen KG
Lancet Respir Med 2020 May;8(5):493-505. doi: 10.1016/S2213-2600(20)30058-8. PMID: 32380069
Stewart E, Adams PS, Tian X, Khalifa O, Wearden P, Zahid M, Lo CW
J Thorac Cardiovasc Surg 2018 Feb;155(2):755-763.e7. Epub 2017 Sep 20 doi: 10.1016/j.jtcvs.2017.09.050. PMID: 29056267Free PMC Article
Boon M, Vermeulen FL, Gysemans W, Proesmans M, Jorissen M, De Boeck K
Thorax 2015 Apr;70(4):339-45. Epub 2015 Feb 11 doi: 10.1136/thoraxjnl-2014-206578. PMID: 25673230

Prognosis

Singer F, Schlegtendal A, Nyilas S, Vermeulen F, Boon M, Koerner-Rettberg C
Thorax 2021 Jul;76(7):681-688. Epub 2021 Jan 27 doi: 10.1136/thoraxjnl-2020-215504. PMID: 33504569
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
Fassad MR, Shoman WI, Morsy H, Patel MP, Radwan N, Jenkins L, Cullup T, Fouda E, Mitchison HM, Fasseeh N
Clin Genet 2020 Mar;97(3):509-515. Epub 2019 Dec 5 doi: 10.1111/cge.13661. PMID: 31650533
Hannah WB, Truty R, Gonzales V, Kithcart GP, Ouyang K, Zeman MK, Li C, Drumm M, Nykamp K, Gaston BM
J Pediatr 2019 Dec;215:172-177.e2. Epub 2019 Oct 11 doi: 10.1016/j.jpeds.2019.08.039. PMID: 31610925
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503

Clinical prediction guides

Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT
Pediatr Pulmonol 2021 Aug;56(8):2717-2723. Epub 2021 Jun 21 doi: 10.1002/ppul.25533. PMID: 34133086
Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY
Yonsei Med J 2021 Mar;62(3):224-230. doi: 10.3349/ymj.2021.62.3.224. PMID: 33635012Free PMC Article
Singer F, Schlegtendal A, Nyilas S, Vermeulen F, Boon M, Koerner-Rettberg C
Thorax 2021 Jul;76(7):681-688. Epub 2021 Jan 27 doi: 10.1136/thoraxjnl-2020-215504. PMID: 33504569
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
McCormick JP, Weeks CG, Rivers NJ, Owen JD, Kelly DR, Rowe SM, Solomon GM, Woodworth BA, Cho DY
Int Forum Allergy Rhinol 2019 Dec;9(12):1430-1435. Epub 2019 Aug 20 doi: 10.1002/alr.22414. PMID: 31430425Free PMC Article

Recent systematic reviews

Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N
BMC Pulm Med 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4. PMID: 31345208Free PMC Article
Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V
Ann Am Thorac Soc 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR. PMID: 28481653Free PMC Article
Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI
Pediatr Res 2017 Mar;81(3):398-405. Epub 2016 Dec 9 doi: 10.1038/pr.2016.263. PMID: 27935903
Adil EA, Kawai K, Dombrowski N, Irace AL, Cunningham MJ
Laryngoscope 2017 Jan;127(1):6-13. Epub 2016 Jun 16 doi: 10.1002/lary.26070. PMID: 27312809
Mener DJ, Lin SY, Ishman SL, Boss EF
Int Forum Allergy Rhinol 2013 Dec;3(12):986-91. Epub 2013 Oct 4 doi: 10.1002/alr.21227. PMID: 24124045

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