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Ciliary dyskinesia, primary, 40(CILD40)

MedGen UID:
1648365
Concept ID:
C4749028
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 40, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): DNAH9 (17p12)
 
Monarch Initiative: MONDO:0032664
OMIM®: 618300

Definition

Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018). For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
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.
Right aortic arch
MedGen UID:
48474
Concept ID:
C0035615
Congenital Abnormality
Aorta descends on right instead of on the left.
Congenitally corrected transposition of the great arteries
MedGen UID:
87489
Concept ID:
C0344616
Congenital Abnormality
The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Unbalanced atrioventricular canal defect
MedGen UID:
482570
Concept ID:
C3280940
Finding
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).
Interrupted inferior vena cava with azygous continuation
MedGen UID:
868827
Concept ID:
C4023237
Congenital Abnormality
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.
Situs inversus
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.
Left Isomerism
MedGen UID:
1640720
Concept ID:
C4703575
Congenital Abnormality
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.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Decreased nasal nitric oxide
MedGen UID:
767344
Concept ID:
C3554430
Finding
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.
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.
Reduced forced expiratory volume in one second
MedGen UID:
1687063
Concept ID:
C5139283
Finding
An abnormal reduction in the amount of air a person can forcefully expel in one second.
Reduced respiratory ciliary beating frequency
MedGen UID:
1757199
Concept ID:
C5421649
Finding
An abnormal reduction in the number of beats per unit time of the respiratory cilia.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Chronic rhinitis
MedGen UID:
3086
Concept ID:
C0008711
Disease or Syndrome
Chronic inflammation of the nasal mucosa.

Professional guidelines

PubMed

Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF
JAMA Otolaryngol Head Neck Surg 2023 Jul 1;149(7):587-596. doi: 10.1001/jamaoto.2023.0841. PMID: 37166807Free PMC Article
Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R
Pediatr Pulmonol 2023 Apr;58(4):1127-1135. Epub 2023 Jan 9 doi: 10.1002/ppul.26303. PMID: 36588099
Lucas JS, Chetcuti P, Copeland F, Hogg C, Kenny T, Moya E, O'Callaghan C, Walker WT
Paediatr Respir Rev 2014 Jun;15(2):142-5. Epub 2013 Jun 12 doi: 10.1016/j.prrv.2013.04.007. PMID: 23764568

Recent clinical studies

Etiology

Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE
Eur Respir J 2022 Oct;60(4) Epub 2022 Oct 20 doi: 10.1183/13993003.01918-2021. PMID: 35301251Free PMC Article
Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X
Chest 2021 May;159(5):1768-1781. Epub 2021 Feb 10 doi: 10.1016/j.chest.2021.02.006. PMID: 33577779Free PMC Article
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
Lucas JS, Davis SD, Omran H, Shoemark A
Lancet Respir Med 2020 Feb;8(2):202-216. Epub 2019 Oct 14 doi: 10.1016/S2213-2600(19)30374-1. PMID: 31624012

Diagnosis

Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R
Pediatr Pulmonol 2023 Apr;58(4):1127-1135. Epub 2023 Jan 9 doi: 10.1002/ppul.26303. PMID: 36588099
Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE
Eur Respir J 2022 Oct;60(4) Epub 2022 Oct 20 doi: 10.1183/13993003.01918-2021. PMID: 35301251Free PMC Article
Fabri L, Shanthikumar S, Tadd K, Morgan L, Schultz A, Robinson P
J Paediatr Child Health 2022 Apr;58(4):683-686. Epub 2021 Nov 16 doi: 10.1111/jpc.15818. PMID: 34786797
Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X
Chest 2021 May;159(5):1768-1781. Epub 2021 Feb 10 doi: 10.1016/j.chest.2021.02.006. PMID: 33577779Free PMC Article
Lucas JS, Davis SD, Omran H, Shoemark A
Lancet Respir Med 2020 Feb;8(2):202-216. Epub 2019 Oct 14 doi: 10.1016/S2213-2600(19)30374-1. PMID: 31624012

Therapy

Jiang S, Chen H, Shen P, Zhou Y, Li Q, Zhang J, Chen Y
Antioxid Redox Signal 2024 Jan;40(1-3):168-185. Epub 2023 Dec 8 doi: 10.1089/ars.2023.0410. PMID: 37917094
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715
Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R
Pediatr Pulmonol 2023 Apr;58(4):1127-1135. Epub 2023 Jan 9 doi: 10.1002/ppul.26303. PMID: 36588099
Sonbahar-Ulu H, Inal-Ince D, Saglam M, Cakmak A, Vardar-Yagli N, Calik-Kutukcu E, Sumer E, Ozcelik U
Eur J Pediatr 2022 Aug;181(8):2891-2900. Epub 2022 May 10 doi: 10.1007/s00431-022-04490-z. PMID: 35536410Free PMC Article
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

Prognosis

Jiang S, Chen H, Shen P, Zhou Y, Li Q, Zhang J, Chen Y
Antioxid Redox Signal 2024 Jan;40(1-3):168-185. Epub 2023 Dec 8 doi: 10.1089/ars.2023.0410. PMID: 37917094
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE
Eur Respir J 2022 Oct;60(4) Epub 2022 Oct 20 doi: 10.1183/13993003.01918-2021. PMID: 35301251Free PMC Article
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
Lucas JS, Chetcuti P, Copeland F, Hogg C, Kenny T, Moya E, O'Callaghan C, Walker WT
Paediatr Respir Rev 2014 Jun;15(2):142-5. Epub 2013 Jun 12 doi: 10.1016/j.prrv.2013.04.007. PMID: 23764568

Clinical prediction guides

Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE
Eur Respir J 2022 Oct;60(4) Epub 2022 Oct 20 doi: 10.1183/13993003.01918-2021. PMID: 35301251Free PMC Article
Fabri L, Shanthikumar S, Tadd K, Morgan L, Schultz A, Robinson P
J Paediatr Child Health 2022 Apr;58(4):683-686. Epub 2021 Nov 16 doi: 10.1111/jpc.15818. PMID: 34786797
Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X
Chest 2021 May;159(5):1768-1781. Epub 2021 Feb 10 doi: 10.1016/j.chest.2021.02.006. PMID: 33577779Free PMC Article
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

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