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3,087 Possible Causes for Cerebellar Ataxia, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    ataxia NO Abnormality of the basal ganglia NO Agenesis of cerebellar vermis NO Progressive encephalopathy NO Abnormality of the cerebral white matter NO Loss of ability to[playground.phenotips.org] Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov]

  • Progressive Supranuclear Palsy

    His principal symptom was cerebellar ataxia for several years.[ncbi.nlm.nih.gov] Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Some of the main symptoms of MSA, such as cerebellar ataxia and orthostatic hypotension, are not rare parts of the clinical picture of PSP.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Cerebellotrigeminal Dermal Dysplasia

    Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords symmetrical scalp alopecia; craniosynostosis; cerebellar ataxia; rhombencephalosynapsis[onlinelibrary.wiley.com] WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2a-kinase (EIF2AK3), an ER transmembrane protein, which plays a key role in translation[docksci.com] كلمات كليدي: cerebellum , congenital , cranial nerve agenesis , ectodermal defect , ectodermal dysplasia , neurocutaneous syndrome , Cerebellar ataxia مخچه , مادرزادی , فقدان[scipers.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Classic Progressive Supranuclear Palsy Syndrome

    Patients have poor levodopa response or cerebellar syndrome (gait ataxia, limb ataxia, cerebellar oculomotor dysfunction etc.)[lecturio.com] Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] PSP with predominant cerebellar ataxia (PSP-C): this presents with cerebellar ataxia as the initial symptom, eventually accompanied by cardinal features of RS.[patient.info]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Chronic Alcoholism

    There was a progressive development of parkinsonism, cerebellar ataxia, and mental deterioration by the time he was 32.[ncbi.nlm.nih.gov] Others develop for non-hereditary reasons, such as alcoholic cerebellar ataxia. What Is Cerebellar Ataxia? Cerebellar ataxia is a symptom, not a distinct disorder.[promises.com] * Affects nearly every organ system: NEURO – Affects both peripheral nervous system (peripheral neuropathy) and central nervous sytem : Cognitive dysfunction, Cerebellar degeneration[errolozdalga.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Infectious Mononucleosis

    Infectious mononucleosis (IM) complicated with a neurological manifestation, including acute cerebellar ataxia, Guillain-Barre syndrome, meningitis, encephalitis, cranial[ncbi.nlm.nih.gov] Ataxia Guillain-Barre syndrome Pancreatitis Myocarditis Pneumonia Lung disease Lymphocytosis Weakened immune system To find out more about these other possible illnesses,[americanpregnancy.org] ataxia. 4 The role of plasmapheresis in treating Guillain—Barré variants is not clear.[nejm.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Hypothyroidism

    Rarely it can present with neurologic problems like reversible cerebellar ataxia, dementia, peripheral neuropathy, psychosis and coma.[ncbi.nlm.nih.gov] Cerebellar ataxia. Psychosis. Encephalopathy. Patients can go on to develop myxoedema coma (see below).[patient.info] Hypothyroidism should be considered in all cases of cerebellar ataxia as it is a reversible cause of ataxia. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Strabismus

    […] autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria,[orpha.net] These patients presented with a form of cerebellar ataxia with slow saccadic eye movements4.[scielo.br] Keywords: Spinocerebellar ataxia, ataxic dysarthria, perceptual analysis, acoustic analysis, cerebellar degenerative disorders, cognitive impairment, language impairment,[openarchive.ki.se]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Bronchogenic Carcinoma

    Neurological examination revealed left cerebellar ataxia. Neuroimaging showed multiple cerebellar metastases with cerebellar hemorrhage adjacent to the tentorium.[ncbi.nlm.nih.gov] A 58-year-old male presented with a rare case of brain metastatic bronchogenic carcinoma with human chorionic gonadotropin (hCG) production causing cerebellar hemorrhage with[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Cerebellar Hemorrhage

    Thirty-two months later, he was readmitted with complaints of occipital, neck, and shoulder pain as well as cerebellar ataxia.[ncbi.nlm.nih.gov] Neurological examination revealed left cerebellar ataxia. Neuroimaging showed multiple cerebellar metastases with cerebellar hemorrhage adjacent to the tentorium.[ncbi.nlm.nih.gov] Subsequent magnetic resonance imaging demonstrated cerebellar hemorrhage and progression in the downward herniation of the tonsils.[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood

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