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Ciliary dyskinesia, primary, 3(CILD3)

MedGen UID:
325210
Concept ID:
C1837618
Disease or Syndrome
Synonyms: CILD3; CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia; Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: DNAH5
Cytogenetic location: 5p15.2
OMIM: 608644

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 oto-sino-pulmonary 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 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 6%. Approximately 50% of males with PCD are infertile as a result of abnormal sperm motility.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Maimoona A Zariwala  |  Michael R Knowles  |  Margaret W Leigh   view full author information

Additional descriptions

From OMIM
Primary ciliary dyskinesia 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 (Afzelius, 1976; El Zein et al., 2003).  http://www.omim.org/entry/608644
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 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 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 totalis
MedGen UID:
504917
Concept ID:
CN001542
Finding
A left-right reversal (or \

Recent clinical studies

Etiology

Marthin JK, Nielsen KG
PLoS One 2013;8(2):e57262. Epub 2013 Feb 20 doi: 10.1371/journal.pone.0057262. PMID: 23437356Free PMC Article
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
Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó
Arch Bronconeumol 2013 Mar;49(3):99-104. Epub 2012 Dec 23 doi: 10.1016/j.arbres.2012.10.007. [Epub ahead of print] PMID: 23265970
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
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

Mata M, Milian L, Armengot M, Carda C
Curr Allergy Asthma Rep 2014 Mar;14(3):420. doi: 10.1007/s11882-014-0420-1. PMID: 24459089
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. [Epub ahead of print] PMID: 24124045
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S
Am J Hum Genet 2013 Sep 5;93(3):561-70. Epub 2013 Aug 29 doi: 10.1016/j.ajhg.2013.07.013. [Epub ahead of print] PMID: 23993197Free PMC Article
Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA
Hum Mutat 2013 Oct;34(10):1352-6. Epub 2013 Aug 6 doi: 10.1002/humu.22371. [Epub ahead of print] PMID: 23798057Free PMC Article
Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó
Arch Bronconeumol 2013 Mar;49(3):99-104. Epub 2012 Dec 23 doi: 10.1016/j.arbres.2012.10.007. [Epub ahead of print] PMID: 23265970

Therapy

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. [Epub ahead of print] PMID: 24124045
Miller WT Jr, Panosian JS
Chest 2013 Dec;144(6):1883-92. doi: 10.1378/chest.13-1270. PMID: 23948769
Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlén B, Horak E, Köhler G, Nürnberg P, Nürnberg G, Porter ME, Omran H
Nat Genet 2013 Mar;45(3):262-8. Epub 2013 Jan 27 doi: 10.1038/ng.2533. [Epub ahead of print] PMID: 23354437Free PMC Article
Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R
Am J Hum Genet 2011 May 13;88(5):599-607. Epub 2011 Apr 14 doi: 10.1016/j.ajhg.2011.03.018. [Epub ahead of print] PMID: 21496787Free PMC Article
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

Prognosis

Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA
Am J Respir Crit Care Med 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. PMID: 24568568Free PMC Article
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
Shoemark A, Dixon M, Corrin B, Dewar A
J Clin Pathol 2012 Mar;65(3):267-71. Epub 2011 Dec 1 doi: 10.1136/jclinpath-2011-200415. [Epub ahead of print] PMID: 22135026
Olm MA, Kögler JE Jr, Macchione M, Shoemark A, Saldiva PH, Rodrigues JC
J Appl Physiol (1985) 2011 Jul;111(1):295-302. Epub 2011 May 5 doi: 10.1152/japplphysiol.00629.2010. [Epub ahead of print] PMID: 21551013Free PMC Article
Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, Escribano A, Lucas JS, Yiallouros P, Omran H, Eber E, O'Callaghan C, Snijders D, Barbato A; ERS Task Force on Primary Ciliary Dyskinesia in Children
Eur Respir J 2010 Dec;36(6):1248-58. Epub 2010 Jun 7 doi: 10.1183/09031936.00001010. [Epub ahead of print] PMID: 20530032

Clinical prediction guides

Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA
Am J Respir Crit Care Med 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. PMID: 24568568Free PMC Article
Rogers GB, Carroll MP, Zain NM, Bruce KD, Lock K, Walker W, Jones G, Daniels TW, Lucas JS
J Clin Microbiol 2013 Dec;51(12):4029-35. Epub 2013 Sep 25 doi: 10.1128/JCM.02164-13. [Epub ahead of print] PMID: 24068019Free PMC Article
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S
Am J Hum Genet 2013 Sep 5;93(3):561-70. Epub 2013 Aug 29 doi: 10.1016/j.ajhg.2013.07.013. [Epub ahead of print] PMID: 23993197Free PMC Article
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
Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó
Arch Bronconeumol 2013 Mar;49(3):99-104. Epub 2012 Dec 23 doi: 10.1016/j.arbres.2012.10.007. [Epub ahead of print] PMID: 23265970

Recent systematic reviews

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. [Epub ahead of print] PMID: 24124045
Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó
Arch Bronconeumol 2013 Mar;49(3):99-104. Epub 2012 Dec 23 doi: 10.1016/j.arbres.2012.10.007. [Epub ahead of print] PMID: 23265970
Rosenfeld RM, Andes D, Bhattacharyya N, Cheung D, Eisenberg S, Ganiats TG, Gelzer A, Hamilos D, Haydon RC 3rd, Hudgins PA, Jones S, Krouse HJ, Lee LH, Mahoney MC, Marple BF, Mitchell CJ, Nathan R, Shiffman RN, Smith TL, Witsell DL
Otolaryngol Head Neck Surg 2007 Sep;137(3 Suppl):S1-31. doi: 10.1016/j.otohns.2007.06.726. PMID: 17761281

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