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1,531 Possible Causes for Menkes Disease, Onset of Disease between 25 and 40 Years of Age

  • Disorder of Copper Metabolism

    Onset is slow and begins between 11 and 25 years of age. Signs and Symptoms In about 40 to 50% of patients, the disease first affects the central nervous system (CNS).[diagnose-me.com] Abstract 105 patients with Menkes disease have been diagnosed from 64Cu-uptake studies in fibroblasts.[ncbi.nlm.nih.gov] About Menkes Disease and Related Copper Metabolism Disorders Menkes disease is a rare X-linked pediatric disease caused by gene mutations of copper transporter ATP7A, which[globenewswire.com]

  • Wilson Disease

    Onset is slow and begins between 11 and 25 years of age. Signs and Symptoms In about 40 to 50% of patients, the disease first affects the central nervous system (CNS).[diagnose-me.com] Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1.[ncbi.nlm.nih.gov] Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20–25 (1993). 16 Adams, M.D. et al.[oadoi.org]

  • Menkes Disease

    Menkes disease Other names Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease ATP7A Specialty Endocrinology Menkes disease ( MNK ), also[en.wikipedia.org] We report two infants with Menkes' disease who developed ischemic cerebrovascular disease early in infancy.[ncbi.nlm.nih.gov] The onset and evolution of epilepsy in Menkes disease is marked by different stages.[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Deficiency of Ceruloplasmin

    Onset is slow and begins between 11 and 25 years of age. Signs and Symptoms In about 40 to 50% of patients, the disease first affects the central nervous system (CNS).[diagnose-me.com] […] gene is a copper transporting ATPase with homology to the Menkes disease gene.[link.springer.com] Google Scholar Tanzi RE, Petrukhin K, Chernov L et al. 1993 The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.[link.springer.com]

  • Benign Adult Familial Myoclonic Epilepsy

    Celiac disease (or gluten sensitive enteropathy): The age of onset may vary between 40 - 80 years and the mean duration of ataxia between 3 to 25 years.[neuroweb.us] Meningococcal meningitis Menkes disease Menkes syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever Mental retardation-truncal obesity-retinal[orpha.net] Half of the patients do not present with gastrointestinal symptoms (gluten-sensitive enteropathy or celiac disease).[neuroweb.us]

  • Hypocupremia

    Three prior surveys indicated clinical seizures and electroencephalographic (EEG) abnormalities in a combined 27 of 29 (93%) symptomatic Menkes disease patients diagnosed[doi.org] In Menke's disease a defect in enterocyte transport of absorbed copper results in increased copper content in the duodenal mucosa and hypocupremia.[ncbi.nlm.nih.gov] Menkes Disease: This is also called Kinky Hair Syndrome, a hereditary disease, which occurs due to a defective gene.[medindia.net]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Pili Torti

    , title "PILI TORTI AS MARKER FOR CARRIERS OF MENKES DISEASE", author "WilliamR Collie and CharleenM Moore and ThomasJ Goka and R.[miami.pure.elsevier.com] Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol . 1999. 3(4):147-58. [Medline] .[emedicine.medscape.com] Menkes disease is also known as copper transport disease, Menkes syndrome, kinky hair disease, Menkes kinky hair syndrome or steely hair disease.[wisegeek.com]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Cutis Laxa

    Menkes disease was the first metabolic disease reported with old-looking, wrinkled skin. Cutis laxa has recently been found in patients with abnormal glycosylation.[ncbi.nlm.nih.gov] IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive ATP6V0A2 Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome ATP7A Menkes[asperbio.com] Differential Diagnosis Menkes disease.[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Distal Hereditary Motor Neuropathy

    The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mutated in patients with Menkes disease, a severe infantile-onset neurodegenerative[ncbi.nlm.nih.gov] Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome.[ncbi.nlm.nih.gov] Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Gastroesophageal Reflux Disease

    The complication of Menkes disease (MD) and gastroesophageal reflux disease (GERD) is extremely rare.[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age

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