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Ciliary dyskinesia, primary, 37(CILD37)

MedGen UID:
1615746
•Concept ID:
C4539798
•
Disease or Syndrome
Synonyms: CILD37; CILIARY DYSKINESIA, PRIMARY, 37, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): DNAH1 (3p21.1)
 
Monarch Initiative: MONDO:0033204
OMIM®: 617577

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Dextrocardia
MedGen UID:
4255
•Concept ID:
C0011813
•
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
See: Feature record | Search on this feature
Right aortic arch
MedGen UID:
48474
•Concept ID:
C0035615
•
Congenital Abnormality
Aorta descends on right instead of on the left.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Wheezing
MedGen UID:
21917
•Concept ID:
C0043144
•
Sign or Symptom
A high-pitched whistling sound associated with labored breathing.
See: Feature record | Search on this feature
Rhinorrhea
MedGen UID:
226777
•Concept ID:
C1260880
•
Sign or Symptom
Increased discharge of mucus from the nose.
See: Feature record | Search on this feature
Chronic rhinitis
MedGen UID:
3086
•Concept ID:
C0008711
•
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
See: Feature record | Search on this feature
Goiter
MedGen UID:
42270
•Concept ID:
C0018021
•
Disease or Syndrome
An enlargement of the thyroid gland.
See: Feature record | Search on this feature
Hypothyroidism
MedGen UID:
6991
•Concept ID:
C0020676
•
Disease or Syndrome
Deficiency of thyroid hormone.
See: Feature record | Search on this feature
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Term Hierarchy

Professional guidelines

PubMed

A systematic review of lung clearance index in non-cystic fibrosis, non-primary ciliary dyskinesia bronchiectasis.
Hine C, Desai M, Davies J, Sapey E, Nagakumar P
Respir Med 2022 Sep;201:106937. Epub 2022 Jul 21 doi: 10.1016/j.rmed.2022.106937. PMID: 35926429
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.
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
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Recent clinical studies

Etiology

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
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
Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia.
Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, Dell SD, Shapiro AJ
Pediatr Pulmonol 2022 May;57(5):1318-1324. Epub 2022 Feb 21 doi: 10.1002/ppul.25853. PMID: 35122416Free PMC Article
Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Changing epidemiology of non-cystic fibrosis bronchiectasis.
Bahçeci S, Karaman S, Nacaroğlu HT, Yazıcı S, Girit S, Ünsal-Karkıner Ş, Can D
Turk J Pediatr 2016;58(1):19-26. doi: 10.24953/turkjped.2016.01.003. PMID: 27922232
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Diagnosis

Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study.
Pieters ALP, van der Veer T, Meerburg JJ, Andrinopoulou ER, van der Eerden MM, Ciet P, Aliberti S, Burgel PR, Crichton ML, Shoemark A, Goeminne PC, Shteinberg M, Loebinger MR, Haworth CS, Blasi F, Tiddens HAWM, Caudri D, Chalmers JD
Am J Respir Crit Care Med 2024 Jul 1;210(1):87-96. doi: 10.1164/rccm.202311-2109OC. PMID: 38635862
Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
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
PRO: Primary Ciliary Dyskinesia: Genes are all you need!
Shirlow R, Fitzgerald DA
Paediatr Respir Rev 2021 Mar;37:32-33. Epub 2020 Apr 14 doi: 10.1016/j.prrv.2020.04.005. PMID: 32653464
CON: Primary Ciliary Dyskinesia diagnosis: Genes are all you need!
Hogg C, Bush A
Paediatr Respir Rev 2021 Mar;37:34-36. Epub 2020 Apr 14 doi: 10.1016/j.prrv.2020.04.004. PMID: 32439130
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article

Therapy

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
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
Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Changing epidemiology of non-cystic fibrosis bronchiectasis.
Bahçeci S, Karaman S, Nacaroğlu HT, Yazıcı S, Girit S, Ünsal-Karkıner Ş, Can D
Turk J Pediatr 2016;58(1):19-26. doi: 10.24953/turkjped.2016.01.003. PMID: 27922232
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.
Storm van's Gravesande K, Omran H
Ann Med 2005;37(6):439-49. doi: 10.1080/07853890510011985. PMID: 16203616

Prognosis

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
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
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
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
Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Alternative inert gas washout outcomes in patients with primary ciliary dyskinesia.
Nyilas S, Schlegtendal A, Singer F, Goutaki M, Kuehni CE, Casaulta C, Latzin P, Koerner-Rettberg C
Eur Respir J 2017 Jan;49(1) Epub 2017 Jan 25 doi: 10.1183/13993003.00466-2016. PMID: 28122863
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Clinical prediction guides

Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study.
Pieters ALP, van der Veer T, Meerburg JJ, Andrinopoulou ER, van der Eerden MM, Ciet P, Aliberti S, Burgel PR, Crichton ML, Shoemark A, Goeminne PC, Shteinberg M, Loebinger MR, Haworth CS, Blasi F, Tiddens HAWM, Caudri D, Chalmers JD
Am J Respir Crit Care Med 2024 Jul 1;210(1):87-96. doi: 10.1164/rccm.202311-2109OC. PMID: 38635862
Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
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
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
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
Motile Ciliary Disorders of the Nasal Epithelium in Adults With Bronchiectasis.
Zhang RL, Pan CX, Tang CL, Cen LJ, Zhang XX, Huang Y, Lin ZH, Li HM, Zhang XF, Wang L, Guan WJ, Wang Y
Chest 2023 May;163(5):1038-1050. Epub 2022 Nov 24 doi: 10.1016/j.chest.2022.11.022. PMID: 36435264
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article

Recent systematic reviews

A systematic review of lung clearance index in non-cystic fibrosis, non-primary ciliary dyskinesia bronchiectasis.
Hine C, Desai M, Davies J, Sapey E, Nagakumar P
Respir Med 2022 Sep;201:106937. Epub 2022 Jul 21 doi: 10.1016/j.rmed.2022.106937. PMID: 35926429
Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761Free PMC Article
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.
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

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      OMIM records containing genes associated with phenotypes registered in MedGen
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