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Chronic otitis media

MedGen UID:
75751
Concept ID:
C0271441
Disease or Syndrome
Synonym: Otitis media, chronic
SNOMED CT: Chronic otitis media (21186006)
 
HPO: HP:0000389
Monarch Initiative: MONDO:0021204

Definition

Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. [from HPO]

Term Hierarchy

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
Conductive deafness-ptosis-skeletal anomalies syndrome
MedGen UID:
347428
Concept ID:
C1857340
Disease or Syndrome
A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
7q11.23 microduplication syndrome
MedGen UID:
347562
Concept ID:
C1857844
Disease or Syndrome
7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior problems including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention-deficit/hyperactivity disorder, oppositional disorders, physical aggression, and autism spectrum disorder; and intellectual disability in some individuals. Distinctive facial features are common. Cardiovascular disease includes dilatation of the ascending aorta. Approximately 30% of individuals have one or more congenital anomalies.
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).
Developmental and epileptic encephalopathy, 39
MedGen UID:
414492
Concept ID:
C2751855
Disease or Syndrome
Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
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).
Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).
Granulomatosis with polyangiitis
MedGen UID:
811223
Concept ID:
C3495801
Disease or Syndrome
Granulomatosis with polyangiitis, formerly termed Wegener granulomatosis, is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), which is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active GPA express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Intellectual disability, X-linked, syndromic 33
MedGen UID:
895979
Concept ID:
C4225418
Disease or Syndrome
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).
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).
Ciliary dyskinesia, primary, 36, X-linked
MedGen UID:
1393107
Concept ID:
C4478372
Disease or Syndrome
CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017). 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).
Glycosylphosphatidylinositol biosynthesis defect 17
MedGen UID:
1648437
Concept ID:
C4747891
Disease or Syndrome
Glycosylphosphatidylinositol biosynthesis defect-17 (GPIBD17) is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
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).
Severe combined immunodeficiency due to CARMIL2 deficiency
MedGen UID:
1648422
Concept ID:
C4748304
Disease or Syndrome
Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).
Ciliary dyskinesia, primary, 47, and lissencephaly
MedGen UID:
1794161
Concept ID:
C5561951
Disease or Syndrome
Primary ciliary dyskinesia-47 and lissencephaly (CILD47) is an autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. The disorder results from impaired function of motile ciliopathy and can be classified as 'reduced generation of multiple motile cilia' (RGMC). Situs inversus is not observed (summary by Wallmeier et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
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).

Professional guidelines

PubMed

Wiesen BM, Hafrén L, Einarsdottir E, Kere J, Mattila PS, Santos-Cortez RLP
Genet Test Mol Biomarkers 2019 Nov;23(11):823-827. doi: 10.1089/gtmb.2019.0135. PMID: 31693456Free PMC Article
Perry D, Kolber MR, Korownyk C, Lindblad AJ, Ramji J, Ton J, Allan GM
Can Fam Physician 2018 Apr;64(4):280-285. PMID: 29650603Free PMC Article
Heidemann CH, Lous J, Berg J, Christensen JJ, Håkonsen SJ, Jakobsen M, Johansen CJ, Nielsen LH, Hansen MP, Poulsen A, Schousboe LP, Skrubbeltrang C, Vind AB, Homøe P
Int J Pediatr Otorhinolaryngol 2016 Aug;87:154-63. Epub 2016 Jun 7 doi: 10.1016/j.ijporl.2016.06.003. PMID: 27368465

Recent clinical studies

Etiology

Jolink C, Huijsman A, Dreschler WA, de Wolf MJF, Ebbens FA, van Spronsen E
Am J Otolaryngol 2023 Mar-Apr;44(2):103698. Epub 2022 Nov 25 doi: 10.1016/j.amjoto.2022.103698. PMID: 36470009
Gargula S, Simon F, Bernardeschi D, Kania R, Denoyelle F, Ayache D, Daval M, Alciato L
Int J Audiol 2023 Nov;62(11):1011-1013. Epub 2022 Nov 8 doi: 10.1080/14992027.2022.2140314. PMID: 36345973
Taha A, Pitaro J, Lazarovitch T, Muallem-Kalmovich L, Garti Y, Gavriel H
Eur Arch Otorhinolaryngol 2023 Feb;280(2):891-896. Epub 2022 Sep 30 doi: 10.1007/s00405-022-07677-0. PMID: 36178529
Burgos MA, Pardo A, Rodríguez R, Rodríguez-Balbuena B, Castro D, Piqueras F, Esteban F
Laryngoscope 2022 Jun;132(6):1224-1230. Epub 2021 Sep 29 doi: 10.1002/lary.29882. PMID: 34585755
Kaufman AC, Colquitt L, Ruckenstein MJ, Bigelow DC, Eliades SJ, Xiong G, Lin C, Reed DR, Cohen NA
Otolaryngol Head Neck Surg 2021 Aug;165(2):290-299. Epub 2021 Jan 12 doi: 10.1177/0194599820984788. PMID: 33433247

Diagnosis

Shapiro SB, Noij KS, Naples JG, Samy RN
Med Clin North Am 2021 Sep;105(5):799-811. Epub 2021 Jul 12 doi: 10.1016/j.mcna.2021.05.003. PMID: 34391534
Shirai N, Preciado D
Curr Opin Otolaryngol Head Neck Surg 2019 Dec;27(6):495-498. doi: 10.1097/MOO.0000000000000591. PMID: 31592792
Feldman HM
Pediatr Rev 2019 Aug;40(8):398-411. doi: 10.1542/pir.2017-0325. PMID: 31371633Free PMC Article
Hutz MJ, Moore DM, Hotaling AJ
Curr Neurol Neurosci Rep 2018 Feb 14;18(3):11. doi: 10.1007/s11910-018-0817-7. PMID: 29445883
Wallis S, Atkinson H, Coatesworth AP
Postgrad Med 2015 May;127(4):391-5. doi: 10.1080/00325481.2015.1027133. PMID: 25913599

Therapy

Chong LY, Head K, Webster KE, Daw J, Richmond P, Snelling T, Bhutta MF, Schilder AG, Burton MJ, Brennan-Jones CG
Cochrane Database Syst Rev 2021 Feb 9;2(2):CD013053. doi: 10.1002/14651858.CD013053.pub2. PMID: 33561891Free PMC Article
Brennan-Jones CG, Head K, Chong LY, Burton MJ, Schilder AG, Bhutta MF
Cochrane Database Syst Rev 2020 Jan 2;1(1):CD013051. doi: 10.1002/14651858.CD013051.pub2. PMID: 31896168Free PMC Article
Hutz MJ, Moore DM, Hotaling AJ
Curr Neurol Neurosci Rep 2018 Feb 14;18(3):11. doi: 10.1007/s11910-018-0817-7. PMID: 29445883
Tsilis NS, Vlastarakos PV, Chalkiadakis VF, Kotzampasakis DS, Nikolopoulos TP
Clin Pediatr (Phila) 2013 Sep;52(9):795-802. Epub 2013 Mar 28 doi: 10.1177/0009922813482041. PMID: 23539681
Cope D, Bova R
Laryngoscope 2008 Sep;118(9):1556-60. doi: 10.1097/MLG.0b013e31817c0b4d. PMID: 18677272

Prognosis

Castro A, Sousa F, Costa J, Lino J, Abrunhosa J, Almeida E Sousa C
Acta Otorrinolaringol Esp (Engl Ed) 2022 Nov-Dec;73(6):339-345. doi: 10.1016/j.otoeng.2021.05.004. PMID: 36404097
Jotic AD, Opankovic AM, Radin ZZ, Cvorovic L, Vujovic KRS, Krejovic-Trivic SB, Bukurov BM, Milicic BR, Stojanovic JD
PLoS One 2022;17(7):e0270793. Epub 2022 Jul 1 doi: 10.1371/journal.pone.0270793. PMID: 35776729Free PMC Article
Holcberg M, El-Saied S, Kraus M, Kaplan DM
J Int Adv Otol 2021 Jan;17(1):30-34. doi: 10.5152/iao.2020.8432. PMID: 33605218Free PMC Article
Tarabichi M, Ayache S, Nogueira JF, Al Qahtani M, Pothier DD
Otolaryngol Clin North Am 2013 Apr;46(2):155-63. Epub 2013 Feb 5 doi: 10.1016/j.otc.2012.12.002. PMID: 23566902
Jereczek-Fossa BA, Zarowski A, Milani F, Orecchia R
Cancer Treat Rev 2003 Oct;29(5):417-30. doi: 10.1016/s0305-7372(03)00066-5. PMID: 12972360

Clinical prediction guides

Jolink C, Huijsman A, Dreschler WA, de Wolf MJF, Ebbens FA, van Spronsen E
Am J Otolaryngol 2023 Mar-Apr;44(2):103698. Epub 2022 Nov 25 doi: 10.1016/j.amjoto.2022.103698. PMID: 36470009
Gargula S, Simon F, Bernardeschi D, Kania R, Denoyelle F, Ayache D, Daval M, Alciato L
Int J Audiol 2023 Nov;62(11):1011-1013. Epub 2022 Nov 8 doi: 10.1080/14992027.2022.2140314. PMID: 36345973
Yücel L, Satar B, Serdar MA
Auris Nasus Larynx 2022 Jun;49(3):322-334. Epub 2021 Dec 25 doi: 10.1016/j.anl.2021.12.003. PMID: 34963507
Holcberg M, El-Saied S, Kraus M, Kaplan DM
J Int Adv Otol 2021 Jan;17(1):30-34. doi: 10.5152/iao.2020.8432. PMID: 33605218Free PMC Article
Beutner D, Huttenbrink KB, Stumpf R, Beleites T, Zahnert T, Luers JC, Helmstaedter V
Otol Neurotol 2010 Jan;31(1):105-10. doi: 10.1097/MAO.0b013e3181be6b48. PMID: 19816225

Recent systematic reviews

Brescia G, Frosolini A, Franz L, Daloiso A, Fantin F, Lovato A, Filippis C, Marioni G
Medicina (Kaunas) 2023 Jan 8;59(1) doi: 10.3390/medicina59010123. PMID: 36676746Free PMC Article
Chong LY, Head K, Webster KE, Daw J, Richmond P, Snelling T, Bhutta MF, Schilder AG, Burton MJ, Brennan-Jones CG
Cochrane Database Syst Rev 2021 Feb 9;2(2):CD013053. doi: 10.1002/14651858.CD013053.pub2. PMID: 33561891Free PMC Article
Tsetsos N, Vlachtsis K, Stavrakas M, Fyrmpas G
Eur Arch Otorhinolaryngol 2021 Apr;278(4):917-923. Epub 2020 Jul 7 doi: 10.1007/s00405-020-06182-6. PMID: 32632614
Brennan-Jones CG, Head K, Chong LY, Burton MJ, Schilder AG, Bhutta MF
Cochrane Database Syst Rev 2020 Jan 2;1(1):CD013051. doi: 10.1002/14651858.CD013051.pub2. PMID: 31896168Free PMC Article
Miura MS, Mascaro M, Rosenfeld RM
Otolaryngol Head Neck Surg 2012 Mar;146(3):345-52. Epub 2011 Dec 9 doi: 10.1177/0194599811430809. PMID: 22157391

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