U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chronic sinusitis

MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
Synonyms: Chronic rhinosinusitis; Sinusitis, chronic
SNOMED CT: Chronic infection of sinus (40055000); Chronic rhinosinusitis (897657000); Chronic sinusitis (40055000)
 
HPO: HP:0011109
Monarch Initiative: MONDO:0006031

Definition

A chronic form of sinusitis. [from HPO]

Conditions with this feature

Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
DNA ligase IV deficiency
MedGen UID:
339855
Concept ID:
C1847827
Disease or Syndrome
LIG4 syndrome is an autosomal recessive severe combined immunodeficiency with features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay. Leukemia and dysmorphic facial features have been reported in some patients (summary by van der Burg et al., 2006).
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).
MHC class I deficiency
MedGen UID:
346868
Concept ID:
C1858266
Disease or Syndrome
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.
Primary ciliary dyskinesia 12
MedGen UID:
436379
Concept ID:
C2675228
Disease or Syndrome
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.\n\nIn 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.\n\nSome 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.\n\nApproximately 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.\n\nPrimary 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.\n\nAnother 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.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.
Primary ciliary dyskinesia 10
MedGen UID:
382707
Concept ID:
C2675867
Disease or Syndrome
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.\n\nIn 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.\n\nSome 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.\n\nApproximately 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.\n\nPrimary 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.\n\nAnother 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.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.
Primary ciliary dyskinesia 9
MedGen UID:
390990
Concept ID:
C2676235
Disease or Syndrome
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). For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
MedGen UID:
440716
Concept ID:
C2749137
Disease or Syndrome
X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006).
Agammaglobulinemia 6, autosomal recessive
MedGen UID:
461557
Concept ID:
C3150207
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.
Agammaglobulinemia 4, autosomal recessive
MedGen UID:
462102
Concept ID:
C3150752
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.
Primary ciliary dyskinesia 14
MedGen UID:
462486
Concept ID:
C3151136
Disease or Syndrome
Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 15
MedGen UID:
462487
Concept ID:
C3151137
Disease or Syndrome
Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 16
MedGen UID:
462810
Concept ID:
C3151460
Disease or Syndrome
Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 17
MedGen UID:
762261
Concept ID:
C3542550
Disease or Syndrome
Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 21
MedGen UID:
815417
Concept ID:
C3809087
Disease or Syndrome
Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 27
MedGen UID:
816031
Concept ID:
C3809701
Disease or Syndrome
Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Joubert syndrome 21
MedGen UID:
816542
Concept ID:
C3810212
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Primary ciliary dyskinesia 30
MedGen UID:
863453
Concept ID:
C4015016
Disease or Syndrome
Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.
Primary ciliary dyskinesia 32
MedGen UID:
896106
Concept ID:
C4225311
Disease or Syndrome
Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 35
MedGen UID:
934688
Concept ID:
C4310721
Disease or Syndrome
Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Kartagener syndrome
MedGen UID:
1646059
Concept ID:
C4551906
Disease or Syndrome
Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), 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). Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the CCDC103 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the LRRC6 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the PIH1D3 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11. Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455. Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).
Ciliary dyskinesia, primary, 38
MedGen UID:
1648465
Concept ID:
C4748052
Disease or Syndrome
Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Ciliary dyskinesia, primary, 40
MedGen UID:
1648365
Concept ID:
C4749028
Disease or Syndrome
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).
Ciliary dyskinesia, primary, 43
MedGen UID:
1684675
Concept ID:
C5231466
Disease or Syndrome
Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).
Heterotaxy, visceral, 11, autosomal, with male infertility
MedGen UID:
1794229
Concept ID:
C5562019
Disease or Syndrome
Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility associated with reduced flagellar motility has been reported (Dougherty et al., 2020). For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Heterotaxy, visceral, 10, autosomal, with male infertility
MedGen UID:
1794282
Concept ID:
C5562072
Disease or Syndrome
Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020). For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Immunodeficiency 102
MedGen UID:
1812534
Concept ID:
C5676886
Disease or Syndrome
Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021).
Ciliary dyskinesia, primary, 50
MedGen UID:
1841109
Concept ID:
C5830473
Disease or Syndrome
Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Ciliary dyskinesia, primary, 53
MedGen UID:
1851509
Concept ID:
C5882728
Disease or Syndrome
Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023).

Professional guidelines

PubMed

Expert Panel on Neurological Imaging, Hagiwara M, Policeni B, Juliano AF, Agarwal M, Burns J, Dubey P, Friedman ER, Gule-Monroe MK, Jain V, Lam K, Patino M, Rath TJ, Shian B, Subramaniam RM, Taheri MR, Zander D, Corey AS
J Am Coll Radiol 2022 May;19(5S):S175-S193. doi: 10.1016/j.jacr.2022.02.011. PMID: 35550800
Agarwal A, Spath D, Sherris DA, Kita H, Ponikau JU
Clin Rev Allergy Immunol 2020 Oct;59(2):141-149. doi: 10.1007/s12016-019-08734-z. PMID: 31073812
Scheid DC, Hamm RM
Am Fam Physician 2004 Nov 1;70(9):1697-704. PMID: 15554487

Recent clinical studies

Etiology

Park KS, Lee DH, Lim SC
Braz J Otorhinolaryngol 2022 Nov-Dec;88 Suppl 1(Suppl 1):S128-S132. Epub 2021 May 25 doi: 10.1016/j.bjorl.2021.05.003. PMID: 34112606Free PMC Article
Compton RA, Lonergan AR, Tsillioni I, Conti P, Ronconi G, Lauritano D, Rebeiz EE, Theoharides TC
J Biol Regul Homeost Agents 2021 May-Jun;35(3):901-908. doi: 10.23812/21-35-3-E2. PMID: 34231347
Hlaváčová R, Kuběna T, Černošek P
Cesk Slov Oftalmol 2019 Summer;74(6):245-248. doi: 10.31348/2018/6/5. PMID: 31238693
Segal N, Gluk O, Puterman M
B-ENT 2012;8(4):265-7. PMID: 23409555
Brook I
Proc Am Thorac Soc 2011 Mar;8(1):90-100. doi: 10.1513/pats.201006-038RN. PMID: 21364226

Diagnosis

Bleier BS, Paz-Lansberg M
Med Clin North Am 2021 Sep;105(5):859-870. Epub 2021 Jul 12 doi: 10.1016/j.mcna.2021.05.008. PMID: 34391539
Hlaváčová R, Kuběna T, Černošek P
Cesk Slov Oftalmol 2019 Summer;74(6):245-248. doi: 10.31348/2018/6/5. PMID: 31238693
Expert Panel on Pediatric Imaging:, Tekes A, Palasis S, Durand DJ, Pruthi S, Booth TN, Desai NK, Jones JY, Kadom N, Lam HFS, Milla SS, Mirsky DM, Partap S, Robertson RL, Ryan ME, Saigal G, Setzen G, Soares BP, Trout AT, Whitehead MT, Karmazyn B
J Am Coll Radiol 2018 Nov;15(11S):S403-S412. doi: 10.1016/j.jacr.2018.09.029. PMID: 30392608
Morcom S, Phillips N, Pastuszek A, Timperley D
Aust Fam Physician 2016 Jun;45(6):374-7. PMID: 27622225
Friedman RA, Harris JP
Annu Rev Med 1991;42:471-89. doi: 10.1146/annurev.me.42.020191.002351. PMID: 2035989

Therapy

Bleier BS, Paz-Lansberg M
Med Clin North Am 2021 Sep;105(5):859-870. Epub 2021 Jul 12 doi: 10.1016/j.mcna.2021.05.008. PMID: 34391539
Gomes CA Jr, Andriolo RB, Bennett C, Lustosa SA, Matos D, Waisberg DR, Waisberg J
Cochrane Database Syst Rev 2015 May 22;2015(5):CD008096. doi: 10.1002/14651858.CD008096.pub4. PMID: 25997528Free PMC Article
Stevens WW, Peters AT
Am J Rhinol Allergy 2015 Mar-Apr;29(2):115-8. doi: 10.2500/ajra.2015.29.4144. PMID: 25785751
Fundakowski C, Ojo R, Younis R
Curr Pediatr Rev 2014;10(3):198-201. PMID: 25088340
Tan R, Spector S
Curr Allergy Asthma Rep 2007 Nov;7(6):421-6. doi: 10.1007/s11882-007-0064-5. PMID: 17986371

Prognosis

Cheng L, Dong Y, Liu S
J Cardiothorac Vasc Anesth 2023 Jun;37(6):1021-1025. Epub 2023 Feb 3 doi: 10.1053/j.jvca.2023.01.033. PMID: 36849313
Agarwal A, Spath D, Sherris DA, Kita H, Ponikau JU
Clin Rev Allergy Immunol 2020 Oct;59(2):141-149. doi: 10.1007/s12016-019-08734-z. PMID: 31073812
Hughes CA, McMenamin P, Mehta V, Pillsbury H, Kennedy D
Laryngoscope 2016 Dec;126 Suppl 9:S5-S11. Epub 2016 Aug 31 doi: 10.1002/lary.26238. PMID: 27576957
Ban GY, Trinh TH, Ye YM, Park HS
Curr Opin Allergy Clin Immunol 2016 Jun;16(3):237-43. doi: 10.1097/ACI.0000000000000273. PMID: 27054316
Brook I
Proc Am Thorac Soc 2011 Mar;8(1):90-100. doi: 10.1513/pats.201006-038RN. PMID: 21364226

Clinical prediction guides

Cook KA, Stevenson DD
Expert Rev Respir Med 2016 Dec;10(12):1305-1316. Epub 2016 Nov 17 doi: 10.1080/17476348.2016.1258306. PMID: 27817219
Ban GY, Trinh TH, Ye YM, Park HS
Curr Opin Allergy Clin Immunol 2016 Jun;16(3):237-43. doi: 10.1097/ACI.0000000000000273. PMID: 27054316
Jain R, Douglas R
Curr Opin Otolaryngol Head Neck Surg 2014 Feb;22(1):16-21. doi: 10.1097/MOO.0000000000000010. PMID: 24275799
Shaikh N, Wald ER, Pi M
Cochrane Database Syst Rev 2012 Sep 12;(9):CD007909. doi: 10.1002/14651858.CD007909.pub3. PMID: 22972113
Shaikh N, Wald ER, Pi M
Cochrane Database Syst Rev 2010 Dec 8;(12):CD007909. doi: 10.1002/14651858.CD007909.pub2. PMID: 21154389

Recent systematic reviews

Nimmagadda SV, Schmale IL, Man LX
Am J Rhinol Allergy 2022 Jul;36(4):529-538. Epub 2022 Feb 23 doi: 10.1177/19458924221081235. PMID: 35195469
Jin AJ, Chin CJ
Am J Rhinol Allergy 2019 Mar;33(2):194-202. Epub 2018 Nov 28 doi: 10.1177/1945892418813079. PMID: 30482029
Gomes CA Jr, Andriolo RB, Bennett C, Lustosa SA, Matos D, Waisberg DR, Waisberg J
Cochrane Database Syst Rev 2015 May 22;2015(5):CD008096. doi: 10.1002/14651858.CD008096.pub4. PMID: 25997528Free PMC Article
Shaikh N, Wald ER, Pi M
Cochrane Database Syst Rev 2012 Sep 12;(9):CD007909. doi: 10.1002/14651858.CD007909.pub3. PMID: 22972113
Shaikh N, Wald ER, Pi M
Cochrane Database Syst Rev 2010 Dec 8;(12):CD007909. doi: 10.1002/14651858.CD007909.pub2. PMID: 21154389

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...