Tag: rare diseases

  • Hypercalcemia-Supravalvar Aortic Stenosis

    Hypercalcemia-Supravalvar Aortic Stenosis Definition and Description of Hypercalcemia-Supravalvar Aortic Stenosis Hypercalcemia-Supravalvar Aortic Stenosis is a rare cardiovascular condition characterized by the narrowing of the aorta just above the aortic valve, often associated with elevated calcium levels in the blood (hypercalcemia). This condition can lead to significant cardiovascular complications, affecting blood flow and potentially resulting in…

  • Hunter Syndrome

    Hunter Syndrome Definition and Description of Hunter Syndrome Hunter Syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is caused by the deficiency of an enzyme called iduronate-2-sulfatase, which is essential for the breakdown of complex carbohydrates known as glycosaminoglycans (GAGs). When this enzyme is…

  • 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…

  • HHT

    HHT Definition and Description of HHT Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder affecting blood vessels, characterized by the presence of abnormal vascular malformations. Individuals with HHT experience telangiectasias, or small, dilated blood vessels, which can lead to recurrent nosebleeds and other bleeding complications. Medically, HHT is classified as an autosomal dominant condition, meaning…

  • Hemophilia B

    Hemophilia B Definition and Description of Hemophilia B Hemophilia B, also known as Christmas disease, is a rare genetic bleeding disorder caused by a deficiency in clotting factor IX. This condition results in the impaired ability of blood to clot, leading to prolonged bleeding after injuries, surgeries, or sometimes even spontaneously. Individuals with Hemophilia B…

  • 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…

  • 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…

  • 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…

  • Granuloma Fungoides

    Granuloma Fungoides: An In-Depth Overview Granuloma Fungoides Definition and Description of Granuloma Fungoides Granuloma Fungoides is a rare and chronic skin condition that falls under the category of cutaneous T-cell lymphoma (CTCL). It primarily affects the skin, leading to red or brown patches and raised lesions. The name “Granuloma” indicates a localized inflammatory response, while…

  • 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…