Tag: genetic disorders

  • Hydrocephalus, Congenital

    Hydrocephalus, Congenital Definition and Description of Hydrocephalus, Congenital Hydrocephalus, Congenital is a neurological condition characterized by the accumulation of cerebrospinal fluid (CSF) within the cavities of the brain, known as ventricles. This condition occurs at birth or develops soon after due to malformations in the brain’s structure, leading to an imbalance between the production and…

  • Hyperammonemia due to Ornithine Transcarbamylase Deficiency

    Hyperammonemia due to Ornithine Transcarbamylase Deficiency Definition and Description of Hyperammonemia due to Ornithine Transcarbamylase Deficiency Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood, which can lead to serious neurological issues if left untreated. One specific cause of hyperammonemia is Ornithine Transcarbamylase (OTC) deficiency. OTC is an enzyme that plays…

  • Homozygous Alpha-1-Antitrypsin Deficiency

    Homozygous Alpha-1-Antitrypsin Deficiency Definition and Description of Homozygous Alpha-1-Antitrypsin Deficiency Homozygous Alpha-1-Antitrypsin Deficiency (AAT deficiency) is a genetic disorder characterized by the lack of a protein called alpha-1-antitrypsin (AAT) that protects the lungs and liver from damage. Individuals with this deficiency have significantly lower levels of AAT, which can lead to various health issues, particularly…

  • Hereditary Angioedema

    Hereditary Angioedema Definition and Description of Hereditary Angioedema Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body. These episodes can span from the face, limbs, gastrointestinal tract, to the airways, leading to potential life-threatening complications. The swelling results from an imbalance in…

  • Hirschsprung’s Disease

    Hirschsprung’s Disease Definition and Description of Hirschsprung’s Disease Hirschsprung’s Disease, also known as congenital aganglionic megacolon, is a serious condition that affects the large intestine (colon) and causes problems with passing stool. It results from the absence of nerve cells (ganglia) in a segment of the colon, leading to the inability to relax, which prevents…

  • HD

    HD Definition and Description of HD Huntington’s Disease (HD) is a progressive neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and emotional disturbances. It typically emerges between the ages of 30 and 50, although symptoms can manifest at any age. Medical definitions describe HD as an autosomal dominant disorder caused by a genetic mutation in…

  • Guenther Porphyria

    Guenther Porphyria Definition and Description of Guenther Porphyria Guenther Porphyria, also known as Erythropoietic Protoporphyria (EPP), is a rare genetic disorder that affects the body’s ability to produce heme, a vital component of hemoglobin in red blood cells. This condition leads to the accumulation of protoporphyrin in the skin and liver, causing various symptoms. Individuals…

  • Glioma-Polyposis Syndrome

    Glioma-Polyposis Syndrome Definition and Description of Glioma-Polyposis Syndrome Glioma-Polyposis Syndrome is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and gliomas in the brain. This syndrome is often linked to hereditary conditions, particularly familial adenomatous polyposis (FAP), which leads to an increased risk of colorectal cancer. The presence of…

  • Giant Axonal Disease

    Giant Axonal Disease Definition and Description of Giant Axonal Disease Giant Axonal Disease (GAD) is a rare, inherited neurological disorder characterized primarily by the presence of giant axons—enlarged nerve fibers—within the peripheral and central nervous systems. It is caused by mutations in the ABCD1 gene, which is responsible for the production of a protein involved…

  • Gardner Syndrome

    Gardner Syndrome Definition and Description of Gardner Syndrome Gardner Syndrome is a genetic disorder that is classified as a type of familial adenomatous polyposis (FAP). It is characterized by the presence of multiple colorectal adenomatous polyps, which have a high risk of progressing to colorectal cancer if left untreated. Besides polyps, individuals may experience soft…