Symptoma

Cochleosaccular Degeneration - Cataract Syndrome

Autosomal Dominant Progressive Sensorineural Deafness and Cataract

MYH9_HUMAN Source: PM19886704 PM23856902 BSc_CH PM22954596 Marked as 'Non-membrane protein' Confidence: high (present in two of the MS resources) Search PubMed for (RBC AND this entry) Gene names: MYH9 Protein names and data: MYH9_HUMAN, Myosin-9, Cellular [rbcc.hegelab.org]

The same chance of occurrence is present in a heterozygous patient. [anyflip.com]

DISEASE: Note Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital [pathwaycommons.org]

Note Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications [abcam.com]

Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment. [en.wikipedia.org]

  • Pathologist

    Specialists may include an otologist, an audiologist, a speech-language pathologist, a clinical geneticist, and a genetic counselor. Support groups are also good resources of support and information. [diseaseinfosearch.org]

  • Visual Impairment

    Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment. Congenital cataracts may be unilateral or bilateral. [en.wikipedia.org]

    Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. [mendelian.co]

    Impairment, and Psychomotor Retardation; OMIM:602197 Cerebellar Degeneration-Related Autoantigen 3 OMIM:213000 Cerebellar Hypoplasia OMIM:213002 Cerebellar Hypoplasia with Endosteal Sclerosis OMIM:213010 Cerebellar Vermis Aplasia with Associated Features [informatics.jax.org]

  • Diplopia

    Strabismus Generalized hypotonia Coronary artery atherosclerosis Resting tremor Apathy Mutism Premature ovarian insufficiency Ventricular fibrillation Dysphonia Chronic obstructive pulmonary disease EMG: myopathic abnormalities Exercise intolerance Diplopia [mendelian.co]

  • Hearing Impairment

    Diseases related with Seizures and Progressive hearing impairment In the following list you will find some of the most common rare diseases related to Seizures and Progressive hearing impairment that can help you solving undiagnosed cases. [mendelian.co]

    A five-generation family with hereditary hearing impairment associated with cochleosaccular degeneration has recently been identified. [karger.com]

    Lalwani AK et al. () A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. [ ] 10. [moldiag.com]

    This may be the simple explanation for the observed high-frequency hearing impairment in DFNA17. VI. [studfiles.net]

    Review the patterns of hearing loss in hereditary hearing impairment. [anyflip.com]

  • Progressive Sensorineural Deafness

    1992 : A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. [wwe.geoscience.net]

    DISEASE: Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. [pathwaycommons.org]

    Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. [abcam.com]

    Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. [rbcc.hegelab.org]

  • Progressive Hearing Loss

    People with this disorder have progressive hearing loss as well as progressive cataracts. The type of hearing loss is sensorineural and is due to the breakdown overtime to parts of the cochlea. [diseaseinfosearch.org]

    hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa.[112] Within each subtype, there is genetic heterogeneity, and numerous subtypes are recognized, although the two most common forms are US type 1B (USH1B) and US [anyflip.com]

  • Renal Insufficiency

    insufficiency External ophthalmoplegia Ophthalmoplegia Myalgia Edema Hypertension Cerebral cortical atrophy Myopathy Tics Myoclonus Tremor Cardiomyopathy Diabetes mellitus Encephalopathy Cognitive impairment Rare Symptoms - Less than 30% cases Depressivity [mendelian.co]

  • Jacksonian Seizure

    Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW [Clinical picture and pathogenesis of Jacksonian seizures in cerebral arteriovenous aneurysms]. Bova VE [medicbind.com]

  • Cytopenia

    Clinical Findings Disorder Macro-thrombo-cytopenia Leukocyte inclusions Nephritis Sensorineural deafness Cataract May-Hegglin anomaly Dohle bodies Sebastian syndrome Epstein syndrome Fechtner syndrome Nonsyndromic sensorineural deafness 17 Symptoms Deafness [moldiag.com]

    Laryngoscope 114:10851091.Mhatre AN, Kim Y, Brodie HA, et al. (2003) Macrothrombo-cytopenia and progressive deafness is due to a mutation inMYH9. [myslide.es]

    Mhatre AN, Kim Y, Brodie HA, et al. (2003) Macrothrombo-cytopenia and progressive deafness is due to a mutation inMYH9. Otol Neurotol 24:205209. [docslide.net]

    […] anaemia with excess Wilson Turner mental retardation hypopigmentation GAN type 2 Metatropic dwarfism blasts syndrome Mental retardation X-linked Coarse face hypotonia constipation Neuropathy giant axonal Metatropic dysplasia 2 RAEB syndromic 6 Refractory cytopenia [yumpu.com]

Rukosuev, A.A.; Kotliarov, E.V., 1992: The surgical treatment of cancer of the middle lobe of the lung. The immediate and long-term results of surgical treatment for cancer of the middle lobe of the lung in 84 patients are discussed. [wwe.geoscience.net]

Treatment - Cochleosaccular degeneration of the inner ear and progressive cataracts Not supplied. Resources - Cochleosaccular degeneration of the inner ear and progressive cataracts Not supplied. [checkorphan.org]

Treatment for cataracts usually involves surgery to remove the old lens and replace with an artificial lens. [diseaseinfosearch.org]

Guidelines for the diagnosis and treatment of pulmonary hypertension: The Task Force for the Diagnosis and Treatment of Pulmonary NINDS or IL-12 allows some white blood cells to proliferate and I felt like my insides were on fire for most of my high school [itcfusinieri.eu]

Many of these patients are elderly and have cataracts, and a common treatment of RVO, an intravitreal corticosteroid, increases the risk that a cataract will develop and progress. [aao.org]

[…] inner ear and progressive cataracts These home medical tests may be relevant to Cochleosaccular degeneration of the inner ear and progressive cataracts: * Ear Infections: Home Testing: o Home Ear Infection Tests o Home Ear Tests o Home Hearing Tests Prognosis [checkorphan.org]

Reduced speech discrimination carries a poor prognosis. [anyflip.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiologically based classifications can be broadly divided into genetic versus nongenetic factors. [anyflip.com]

The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). [reference.md]

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.com]

Commonly, a patient with small congenital cataracts that do not affect vision will eventually be affected later in life; generally this will take decades to occur. [3] Epidemiology [ edit ] Congenital cataract are responsible for nearly 10% of all vision [en.wikipedia.org]

Relevant External Links for MYH9 Genetic Association Database (GAD) MYH9 Human Genome Epidemiology (HuGE) Navigator MYH9 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MYH9 No data available for Genatlas for MYH9 Gene Polymorphisms in [genecards.org]

Multiple epidemiological studies suggest that cataract surgery accelerates the progression of AMD. Many of these population-based studies are, however, reports of prevalence, and it is hard to differentiate between association and causation. [aao.org]

Prevention - Cochleosaccular degeneration of the inner ear and progressive cataracts Not supplied. [checkorphan.org]

Categories M.D.C MDC Category Not Assigned For This ICD Code H83.8 Medicare Severity-Diagnosis Related Groups MS-DRG MS-DRG Category Not Assigned For This ICD Code H83.8 Clinical Classifications Software CCS CCS Category Not Assigned For This ICD Code H83.8 Prevention [medicbind.com]

[…] diets keep insulin levels low preventing sodium retention and angiotensin Free Blood Pressure Check Walgreens Decreases Osmotic Volume Increase activation. [itcfusinieri.eu]

For example, a cataract may be removed if it prevents examination or treatment of another eye problem, such as macular degeneration or diabetic retinopathy. [mdfoundation.com.au]