Tag: genetic mutation

  • Transthyretin Methionine-30 Amyloidosis (Type I)

    Transthyretin Methionine-30 Amyloidosis (Type I): Definition and Description of Transthyretin Methionine-30 Amyloidosis (Type I): Transthyretin Methionine-30 Amyloidosis (ATTR-M30), a hereditary form of amyloidosis, is characterized by the deposition of misfolded transthyretin (TTR) protein in tissues and organs. The disease arises from a mutation in the TTR gene on chromosome 18, specifically within the codon for…

  • Icelandic Type Amyloidosis (Type VI)

    Icelandic Type Amyloidosis (Type VI) Definition and Description of Icelandic Type Amyloidosis (Type VI) Icelandic Type Amyloidosis, also known as Type VI amyloidosis, is a rare form of systemic amyloidosis characterized by the deposition of amyloid fibrils primarily composed of mutated transthyretin (TTR) protein. This condition primarily affects individuals of Icelandic descent, due to a…

  • Hutchinson-Gilford Syndrome (HGPS)

    Hutchinson-Gilford Syndrome (HGPS) Definition and Description of Hutchinson-Gilford Syndrome (HGPS) Hutchinson-Gilford Syndrome (HGPS), also known as progeria, is a rare genetic disorder characterized by rapid aging in children. Affected individuals usually appear normal at birth but begin to show signs of accelerated aging within the first two years of life. This condition primarily arises from…

  • Huntington’s Chorea (HD)

    Huntington’s Chorea (HD) Definition and Description of Huntington’s Chorea (HD) Huntington’s Chorea, also known as Huntington’s Disease (HD), is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms. This condition is caused by a genetic mutation in the HTT gene, which leads to the production of an abnormal form of…

  • Huntington’s Disease (HD)

    Huntington’s Disease (HD) Definition and Description of Huntington’s Disease (HD) Huntington’s Disease (HD) is a progressive neurodegenerative disorder caused by a genetic mutation in the HTT gene. This mutation leads to the production of a toxic protein, which gradually damages brain cells, particularly in areas that control movement, mood, and cognition. The condition typically manifests…

  • Gunther Disease

    Gunther Disease Definition and Description of Gunther Disease Gunther Disease, also known as congenital erythropoietic porphyria (CEP), is a rare autosomal recessive disorder caused by a deficiency in the enzyme uroporphyrinogen III synthase. This enzyme is crucial for the proper breakdown of porphyrins, which are important for the functioning of hemoglobin in the blood. Individuals…

  • Gilbert’s Disease

    Gilbert’s Disease Gilbert’s Disease Definition and Description of Gilbert’s Disease Gilbert’s Disease, also known as Gilbert’s syndrome, is a common and usually harmless liver disorder. It is characterized by a mild increase in the level of bilirubin in the blood, a substance that is produced from the breakdown of red blood cells. Medically, Gilbert’s Disease…

  • Gaucher-Schlagenhaufer

    Gaucher-Schlagenhaufer Definition and Description of Gaucher-Schlagenhaufer Gaucher-Schlagenhaufer is a rare genetic disorder stemming from the deficiency of the enzyme glucocerebrosidase. This deficiency leads to the accumulation of harmful substances in various organs, particularly the spleen, liver, bones, and, in some cases, the brain. The disease can manifest in various forms, primarily categorized into Type 1…