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3,558 Possible Causes for Mutation in the VPS53 Gene, Nystagmus

  • Valinemia

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Clinical symptoms of the patient consist of vomiting, nystagmus, hyperkinesia, muscular hypotony, failure to thrive, and mental retardation. 1 Routine laboratory examinations[doi.org] Enterovesical fistula Vessel’s syndrome - See Proximal symphalangism Vestibular schwannoma - See Acoustic neuroma Vestibulocerebellar disorder with predominant ocular signs - See Nystagmus[herenciageneticayenfermedad.blogspot.com]

  • Acute Alcohol Intoxication

    The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[ncbi.nlm.nih.gov] One (or more) of the following signs, developing during, or shortly after, alcohol use: (1) slurred speech (2) incoordination (3) unsteady gait (4) nystagmus (5) impairment[hamsnetwork.org] Due to their shared symptoms including double vision, nystagmus, dysarthria, and ataxia, the differential diagnosis of alcohol intoxication and vertebrobasilar stroke may[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Meniere's Disease

    Periodic alternating nystagmus (PAN) is a spontaneous horizontal nystagmus that reverses direction periodically. PAN has been reported in acquired and congenital forms.[ncbi.nlm.nih.gov] Periodic alternating nystagmus is a rare central nervous system disorder in which the eyes undergo a horizontal jerk nystagmus that periodically reverses direction.[ncbi.nlm.nih.gov] Three patients developed a spontaneous "irritative" nystagmus during the early post-treatment period.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Traumatic Brain Injury

    Appetite changes Partial or total loss of vision Weakness of eye muscles and/or double vision (diplopia) Blurred vision Problems judging distance Involuntary eye movements (nystagmus[northeastern.edu] Hinoki MTerayama K Physiological role of neck muscles in the occurrence of optic eye nystagmus: relationship of optic head nystagmus to optic eye nystagmus in case of procanization[dx.doi.org] A labyrinthine concussion is often manifested by vertigo, nystagmus, and nausea that occur after rapid changes in head position.[dx.doi.org]

    Missing: Mutation in the VPS53 Gene
  • Benign Paroxysmal Positional Vertigo

    A 50-year-old woman with BPPV who showed an 18 degree spontaneous nystagmus treated with Epley maneuver and a 53-year-old man with 3 degree spontaneous nystagmus.[ncbi.nlm.nih.gov] Down-beating positional nystagmus is typically associated with central nervous system disease.[ncbi.nlm.nih.gov] […] torsional nystagmus in SSC BPPV versus up-beating torsional nystagmus in PSC BPPV.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Familial Infantile Bilateral Striatal Necrosis

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy.[ncbi.nlm.nih.gov] Untreated children showed signs of developmental arrest with onset at age 7 to 15 months, choreoathetosis and dysphagia, and a later onset of pendular nystagmus.[pediatricneurologybriefs.com]

  • Stroke

    The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[ncbi.nlm.nih.gov] Posterior cerebral artery Monocular loss of vision (amaurosis) Ophthalmic artery (a branch of the internal carotid artery) Unilateral or bilateral cranial nerve deficits (eg, nystagmus[msdmanuals.com] Know that cerebellar strokes also may cause vertigo, nausea and vomiting, headache, nystagmus, and slurred speech.[americannursetoday.com]

    Missing: Mutation in the VPS53 Gene
  • Moderate and Severe Traumatic Brain Injury

    […] meaningful data Vision Partial or total loss of vision Weakness of eye muscles and double vision (diplopia) Blurred vision Problems judging distance Involuntary eye movements (nystagmus[traumaticbraininjury.com] Partial or total loss of vision Diplopia, which is weakness of eye muscles that causes double vision Blurred vision Problems judging distance Involuntary eye movements, called nystagmus[brainline.org]

    Missing: Mutation in the VPS53 Gene
  • Alcohol Withdrawal

    Monitor for disorientation, diaphoresis, agitation, tremulousness, hyper-reflexia, ataxia, and nystagmus. C.[clinicaladvisor.com] […] therapeutic range for phenobarbital (64-172 micromol/L 15-40 ug/ml), an orange line indicating the level at which mild signs of toxicity are usually noted such as ataxia and nystagmus[emcrit.org] Exam findings suggestive of withdrawal can include disorientation, diaphoresis, agitation, tremulousness, hyper-reflexia, ataxia, and nystagmus.[clinicaladvisor.com]

    Missing: Mutation in the VPS53 Gene
  • Cerebellar Stroke

    Remaining 8 patients were also symptomatic for vertigo, but they had spontaneous nystagmus. The latter group was called "disease control."[ncbi.nlm.nih.gov] It is important to observe the nystagmus periodically after onset.[ncbi.nlm.nih.gov] Patients with symptoms commonly peripheral in etiology (nystagmus, tinnitus, gait instability, etc.) were included in the study.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene

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