Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

Deafness can present as part of a syndrome, for example Usher, Pendred, Jervell and Lange-Nielsen and Waardenburg syndromes. [centogene.com]

Delivery is via cesarean delivery because of breech presentation at onset of labor. [pedsinreview.aappublications.org]

In our family, the presentation of the optic atrophy and the bilateral progressive sensorineural hearing loss is similar to the presentation of the families with autosomal dominant optic neuropathy and deafness and a mutation in OPA1. [molvis.org]

Vestibular schwannomas can present with hearing loss, particularly in individuals with NF-2. [ajnr.org]

• Anemia

  Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever, aphthous stomatitis, pharyngitis and adenitis Sickle cell anemia [checkrare.com]

  Another OPA1 mutation (p.Tyr582Cys) is responsible for progressive hearing loss that necessitated cochlear implantation, macrocytic anemia, and hypogonadism [ 16 ]. [molvis.org]

  […] syndrome AD 21 56 SEMA3E CHARGE syndrome AD 1 4 SERPINB6 Deafness AR 2 3 SIX1 Deafness, Branchiootic syndrome, Branchiootorenal syndrome AD 11 19 SIX5 Branchiootorenal syndrome AD 3 10 SLC17A8 Deafness AD 1 8 SLC19A2 Thiamine-responsive megaloblastic anemia [blueprintgenetics.com]

  a blood disorder which may involve chronic anemia, impairment of growth and development, leg ulcers, and painful crises caused by the obstruction of small blood vessels (27). [www2.loras.edu]

• Pathologist

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Night Blindness

  During the second decade, night blindness and loss of peripheral vision become evident and inexorably progress. Three types of Usher syndrome are recognized based on the degree of hearing impairment and result of vestibular function testing. [consilieregenetica.org]

  […] disease type 9 Kaposi sarcoma Spondylocostal dysostosis Spinocerebellar degeneration and corneal dystrophy Sugarman brachydactyly Familial osteochondritis dissecans Neuropathy, hereditary motor and sensory, Russe type X-linked congenital stationary night [checkrare.com]

• Hyperkeratosis

  […] cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 [en.wikipedia.org]

  In a previous report, the p.R75Q mutation is shown to cause HL and congenital diffuse palmoplantar hyperkeratosis [14]. [docksci.com]

  […] deletion syndrome Scott syndrome Syndactyly type 9 Cogan-Reese syndrome Bannayan-Riley-Ruvalcaba syndrome Congenital absence of the sternocleidomastoid muscle Levy-Yeboa syndrome Eunuchoidism familial hypogonadotropic Pfeiffer Tietze Welte syndrome Hyperkeratosis [checkrare.com]

• Skin Disease

  Nicholson, The role of connexins in ear and skin physiology – functional insights from disease-associated mutations, Biochim. Biophys. Acta 1828 (2013) 167–178. [4] Y. Yuan, Y. You, D. Huang, J. Cui, Y. Wang, Q. [docksci.com]

• Tinnitus

  Tinnitus was reported by some of the affected members, but no other consistent medical or physical abnormalities were detected. [nejm.org]

  Patient III:12 referred to episodes of bilateral tinnitus. Figure 2 Audiograms showing the air conduction values obtained from six different affected subjects. Each graph point represents the average hearing loss for the right and left ears. [jmg.bmj.com]

  Up to 18% of individuals with NF-2 present before 15 years of age, and hearing loss or tinnitus is the initial symptom in 20% of children who are ultimately diagnosed with the condition. 45, 46 The hearing loss in these cases is usually progressive and [ajnr.org]

  Tinnitus was reported by 41.2%." [dizziness-and-balance.com]

For example if a KNCQ1 mutation is found, additional cardiac workup may be warranted since mutations in this gene are also associated with cardiac rhythm abnormalities. [bcidaho.com]

Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. [rarediseases.org]

Treatment Treatment Options: No information on treatment has been reported. [disorders.eyes.arizona.edu]

Considerable strides have been made in the treatment of fungal diseases (onychomycoses) with the appearance of new therapeutic agents. [books.google.ro]

Standard Therapies Treatment The treatment of Alport syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Stroke 41 (10), 2309-2315, 2010 194 2010 Substance abuse among patients with treatment-resistant schizophrenia: characteristics and implications for clozapine therapy. [scholar.google.com]

"Mid-frequency sensorineural hearing loss: aetiology and prognosis." J Laryngol Otol 119 (7): 529-33. Steel KP. A new era in the genetics of deafness. NEJM 1998 Stojkovic and others. [dizziness-and-balance.com]

Okada M, Iwasaki S, et al: The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol Mar 31:1-4, 2017. [mita.iuhw.ac.jp]

Prognosis Mitral valve prolapse (MVP) is not progressive in childhood, and specific therapy is not indicated for the vast majority of patients. Progression to significant mitral regurgitation (MR) or sudden death is rare. [emedicine.medscape.com]

These factors lend credence to the theory that patients with GJB2 and GJB6 mutations may have a favorable prognosis following cochlear implantation, and that patients with other mutations or without a documented mutation may have a less favorable prognosis [bcidaho.com]

The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. [soar-rd.shinshu-u.ac.jp]

Current physiology-based hearing screening protocol generates high false positive rate and is unable to detect early-onset hearing loss and provide a diagnosis that defines underlying etiology. [grantome.com]

Single-gene testing may be warranted in cases in which the medical or family history, or presentation of the hearing loss, suggests a specific etiology. [bcidaho.com]

It is due to seeding from the bloodstream and is most commonly viral in etiology. [ajnr.org]

Of note, there’s some debate about the molecular etiology of nonsyndromic sensorineural hearing loss in subjects with only one detectable GJB2 mutation. A minority of such cases is explained by digenic etiology of GJB2 with GJB3 or GJB6. [bredagenetics.com]

Etiologic heterogeneity and cardiac findings. Am J Dis Child. 1991 Jan. 145(1):90-3. [Medline]. Terechtchenko L, Doronina SA, Pochinok EM, Riftine A. [emedicine.medscape.com]

Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations. [books.google.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.es]

Hearing screening—aspects of epidemiology and identification of hearing impaired children. Int J Pediatr Otorhinolaryngol 1999, 49 (suppl 1):S287-292. [yumpu.com]

From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]

Nikolopoulos TP: Auditory dyssynchrony or auditory neuropathy: understanding the pathophysiology and exploring methods of treatment. Int J Pediatr Otorhinolaryngol 2014;78:171-173. [karger.com]

Reports of more families with hearing impairment linked to this novel locus should contribute to the identification of the responsible gene, providing insights into the auditory function and the molecular pathophysiology of age related hearing loss. [jmg.bmj.com]

Pathophysiology Mitral valve prolapse (MVP) is a heterogeneous disorder and may originate from various underlying causes affecting one or more portions of the mitral valve leaflets, chordae tendineae, papillary muscle, and/or valve annulus. [emedicine.medscape.com]

See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980). [www2.loras.edu]

[…] but not sufficient to prevent eventual hearing loss. [consilieregenetica.org]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

WHO activities for prevention of deafness and hearing impairment in children. Scand Audiol Suppl 2001, (53):93-100. [yumpu.com]

These drugs are blood pressure medications that prevent (inhibit) an enzyme in the body from producing angiotensin II. Angiotensin II is a chemical that acts to narrow blood vessels and can raise blood pressure. [rarediseases.org]