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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.
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.
Right aortic arch
MedGen UID:
48474
Concept ID:
C0035615
Congenital Abnormality
Aorta descends on right instead of on the left.
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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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.
Wheezing
MedGen UID:
21917
Concept ID:
C0043144
Sign or Symptom
A high-pitched whistling sound associated with labored breathing.
Rhinorrhea
MedGen UID:
226777
Concept ID:
C1260880
Sign or Symptom
Increased discharge of mucus from the nose.
Chronic rhinitis
MedGen UID:
3086
Concept ID:
C0008711
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.

Term Hierarchy

Professional guidelines

PubMed

Wucherpfennig L, Wuennemann F, Eichinger M, Schmitt N, Seitz A, Baumann I, Roehmel JF, Stahl M, Hämmerling S, Chung J, Schenk JP, Alrajab A, Kauczor HU, Mall MA, Wielpütz MO, Sommerburg O
Ann Am Thorac Soc 2024 Mar;21(3):438-448. doi: 10.1513/AnnalsATS.202305-453OC. PMID: 38206973
Caliskan AB, Horani A, Manion M, Brody SL
Pediatr Pulmonol 2022 Apr;57(4):1072-1075. Epub 2022 Jan 28 doi: 10.1002/ppul.25836. PMID: 35043594
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

Shafiq I, Wahla AS, Uzbeck MH, Zoumot Z, Abuzakouk M, Elkhalifa S, Bodi G, Almazrouei KM, Bodi K, Isse S
BMC Pulm Med 2023 Jul 10;23(1):250. doi: 10.1186/s12890-023-02543-z. PMID: 37430275Free PMC Article
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
Gargula S, Luscan R, Drummond D, Denoyelle F, Couloigner V, Leboulanger N, Simon F
Int J Pediatr Otorhinolaryngol 2021 Jun;145:110706. Epub 2021 Apr 6 doi: 10.1016/j.ijporl.2021.110706. PMID: 33862327
Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S
Fertil Steril 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007. PMID: 28577616
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. PMID: 24420929

Diagnosis

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
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
Shafiq I, Wahla AS, Uzbeck MH, Zoumot Z, Abuzakouk M, Elkhalifa S, Bodi G, Almazrouei KM, Bodi K, Isse S
BMC Pulm Med 2023 Jul 10;23(1):250. doi: 10.1186/s12890-023-02543-z. PMID: 37430275Free PMC Article
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
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

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
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
Ferreux L, Bourdon M, Chargui A, Schmitt A, Stouvenel L, Lorès P, Ray P, Lousqui J, Pocate-Cheriet K, Santulli P, Dulioust E, Toure A, Patrat C
Hum Reprod 2021 Oct 18;36(11):2848-2860. doi: 10.1093/humrep/deab200. PMID: 34529793
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
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

Prognosis

Wucherpfennig L, Wuennemann F, Eichinger M, Schmitt N, Seitz A, Baumann I, Roehmel JF, Stahl M, Hämmerling S, Chung J, Schenk JP, Alrajab A, Kauczor HU, Mall MA, Wielpütz MO, Sommerburg O
Ann Am Thorac Soc 2024 Mar;21(3):438-448. doi: 10.1513/AnnalsATS.202305-453OC. PMID: 38206973
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
Shafiq I, Wahla AS, Uzbeck MH, Zoumot Z, Abuzakouk M, Elkhalifa S, Bodi G, Almazrouei KM, Bodi K, Isse S
BMC Pulm Med 2023 Jul 10;23(1):250. doi: 10.1186/s12890-023-02543-z. PMID: 37430275Free PMC Article
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
Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S
Fertil Steril 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007. PMID: 28577616

Clinical prediction guides

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
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
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
Gargula S, Luscan R, Drummond D, Denoyelle F, Couloigner V, Leboulanger N, Simon F
Int J Pediatr Otorhinolaryngol 2021 Jun;145:110706. Epub 2021 Apr 6 doi: 10.1016/j.ijporl.2021.110706. PMID: 33862327
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. PMID: 24420929

Recent systematic reviews

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
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
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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