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Ciliary dyskinesia, primary, 6(CILD6)

MedGen UID:
370930
Concept ID:
C1970506
Disease or Syndrome
Synonyms: CILD6; Primary Ciliary Dyskinesia; Primary Ciliary Dyskinesia 6: NME8-Related Primary Ciliary Dyskinesia; Primary Ciliary Dyskinesia 6: TXNDC3-Related Primary Ciliary Dyskinesia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): NME8 (7p14.1)
OMIM®: 610852

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 otosinopulmonary 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 40%-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 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility. [from GeneReviews]
Authors:
Maimoona A Zariwala  |  Michael R Knowles  |  Margaret W Leigh   view full author information

Additional description

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 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.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.  https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia

Clinical features

Primary ciliary dyskinesia
MedGen UID:
3467
Concept ID:
C0008780
Disease or Syndrome
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 otosinopulmonary 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 40%-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 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Absent/shortened outer dynein arms
MedGen UID:
413238
Concept ID:
C2750161
Finding
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.
Abnormal ciliary motility
MedGen UID:
868584
Concept ID:
C4022983
Anatomical Abnormality
Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
Abnormal respiratory motile cilium morphology
MedGen UID:
870646
Concept ID:
C4025100
Anatomical Abnormality
Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
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.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.

Recent clinical studies

Etiology

Hosie PH, Fitzgerald DA, Jaffe A, Birman CS, Rutland J, Morgan LC
J Paediatr Child Health 2015 Jul;51(7):722-6. Epub 2014 Dec 15 doi: 10.1111/jpc.12791. [Epub ahead of print] PMID: 25510893
Alanin MC, Johansen HK, Aanaes K, Høiby N, Pressler T, Skov M, Nielsen KG, von Buchwald C
Acta Otolaryngol 2015 Jan;135(1):58-63. Epub 2014 Nov 5 doi: 10.3109/00016489.2014.962185. [Epub ahead of print] PMID: 25370419
Raidt J, Wallmeier J, Hjeij R, Onnebrink JG, Pennekamp P, Loges NT, Olbrich H, Häffner K, Dougherty GW, Omran H, Werner C
Eur Respir J 2014 Dec;44(6):1579-88. Epub 2014 Sep 3 doi: 10.1183/09031936.00052014. [Epub ahead of print] PMID: 25186273
Boon M, De Boeck K, Jorissen M, Meyts I
Respir Med 2014 Jun;108(6):931-4. Epub 2014 Apr 2 doi: 10.1016/j.rmed.2014.03.009. [Epub ahead of print] PMID: 24768622
Santamaria F, Esposito M, Montella S, Cantone E, Mollica C, De Stefano S, Mirra V, Carotenuto M
Respirology 2014 May;19(4):570-5. Epub 2014 Mar 24 doi: 10.1111/resp.12273. [Epub ahead of print] PMID: 24661455

Diagnosis

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548
Hosie PH, Fitzgerald DA, Jaffe A, Birman CS, Rutland J, Morgan LC
J Paediatr Child Health 2015 Jul;51(7):722-6. Epub 2014 Dec 15 doi: 10.1111/jpc.12791. [Epub ahead of print] PMID: 25510893
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S
Pediatrics 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808. PMID: 25422025Free PMC Article
Wartchow EP, Jaffe R, Mierau GW
Pediatr Dev Pathol 2014 Nov-Dec;17(6):465-9. Epub 2014 Oct 9 doi: 10.2350/14-06-1504-OA.1. [Epub ahead of print] PMID: 25299134
Santamaria F, Esposito M, Montella S, Cantone E, Mollica C, De Stefano S, Mirra V, Carotenuto M
Respirology 2014 May;19(4):570-5. Epub 2014 Mar 24 doi: 10.1111/resp.12273. [Epub ahead of print] PMID: 24661455

Therapy

Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators
BMC Res Notes 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x. [Epub ahead of print] PMID: 25869032Free PMC Article
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S
Pediatrics 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808. PMID: 25422025Free PMC Article
Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW
Chest 2014 Nov;146(5):1176-86. doi: 10.1378/chest.13-1704. PMID: 24577564Free PMC Article
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238

Prognosis

Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators
BMC Res Notes 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x. [Epub ahead of print] PMID: 25869032Free PMC Article
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S
Pediatrics 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808. PMID: 25422025Free PMC Article
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
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238
Wolter NE, Dell SD, James AL, Campisi P
Int J Pediatr Otorhinolaryngol 2012 Nov;76(11):1565-8. Epub 2012 Aug 9 doi: 10.1016/j.ijporl.2012.07.011. [Epub ahead of print] PMID: 22883987

Clinical prediction guides

Alanin MC, Johansen HK, Aanaes K, Høiby N, Pressler T, Skov M, Nielsen KG, von Buchwald C
Acta Otolaryngol 2015 Jan;135(1):58-63. Epub 2014 Nov 5 doi: 10.3109/00016489.2014.962185. [Epub ahead of print] PMID: 25370419
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S
Pediatrics 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808. PMID: 25422025Free PMC Article
Santamaria F, Esposito M, Montella S, Cantone E, Mollica C, De Stefano S, Mirra V, Carotenuto M
Respirology 2014 May;19(4):570-5. Epub 2014 Mar 24 doi: 10.1111/resp.12273. [Epub ahead of print] PMID: 24661455
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. [Epub ahead of print] PMID: 24420929
Gokdemir Y, Karadag-Saygi E, Erdem E, Bayindir O, Ersu R, Karadag B, Sekban N, Akyuz G, Karakoc F
Pediatr Pulmonol 2014 Jun;49(6):611-6. Epub 2013 Aug 30 doi: 10.1002/ppul.22861. [Epub ahead of print] PMID: 24039238

Recent systematic reviews

Kouis P, Papatheodorou SI, Yiallouros PK
BMC Pulm Med 2015 Dec 3;15:153. doi: 10.1186/s12890-015-0147-3. [Epub ahead of print] PMID: 26634346Free PMC Article
Collins SA, Gove K, Walker W, Lucas JS
Eur Respir J 2014 Dec;44(6):1589-99. Epub 2014 Oct 16 doi: 10.1183/09031936.00088614. [Epub ahead of print] PMID: 25323224
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
Schidlow DV
Ann Allergy 1994 Dec;73(6):457-68; quiz 468-70. PMID: 7998657

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