Tag: rare diseases

  • Kawasaki Disease

    Kawasaki Disease Definition and Description of Kawasaki Disease Kawasaki Disease is a rare but serious illness that primarily affects children under the age of five. It is characterized by inflammation of blood vessels throughout the body, particularly the coronary arteries. The condition was first described by Dr. Tomisaku Kawasaki in 1967 and is also known…

  • Jakob-Creutzfeldt Disease

    Jakob-Creutzfeldt Disease Definition and Description of Jakob-Creutzfeldt Disease Jakob-Creutzfeldt Disease (JCD), also known as Creutzfeldt-Jakob Disease (CJD), is a rare and degenerative brain disorder classified as a prion disease. It causes rapid neurodegeneration in humans, leading to severe cognitive impairment and physical disability. This condition is characterized by the accumulation of misfolded proteins, known as…

  • Jansen Disease

    Jansen Disease Definition and Description of Jansen Disease Jansen Disease is a rare genetic disorder that affects bone metabolism, primarily resulting in a condition known as hyperphosphatasia. It is characterized by elevated levels of alkaline phosphatase in the blood, which can lead to abnormal bone development. This condition is typically caused by mutations in the…

  • Johnson-Stevens Disease

    Johnson-Stevens Disease Definition and Description of Johnson-Stevens Disease Johnson-Stevens Disease is a rare but serious neurological condition characterized by a combination of symptoms that can affect an individual’s physical and mental health. It typically manifests with neurological signs and can lead to various complications if not diagnosed and treated promptly. The disease may involve inflammation…

  • Immunodeficiency with Ataxia Telangiectasia

    Immunodeficiency with Ataxia Telangiectasia Definition and Description of Immunodeficiency with Ataxia Telangiectasia Immunodeficiency with Ataxia Telangiectasia (A-T) is a rare genetic condition that primarily affects the immune system and is characterized by progressive neurological decline. A-T results from mutations in the ATM gene, which is crucial for DNA repair and cellular response to stress. This…

  • Infantile Gaucher Disease

    Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…

  • Inherited Lipodystrophy

    Inherited Lipodystrophy Definition and Description of Inherited Lipodystrophy Inherited Lipodystrophy is a rare genetic disorder characterized by the abnormal distribution of body fat. It results in a significant loss of adipose tissue in some regions of the body while causing an accumulation in others, often leading to metabolic disorders. The condition can be classified as…

  • Iceland Disease

    Iceland Disease Definition and Description of Iceland Disease Iceland Disease, often referred to in medical circles as a rare hereditary disorder, is characterized by the presence of specific genetic mutations that result in unique phenotypic expressions. This condition is primarily associated with changes in the skin and connective tissues. Those affected by Iceland Disease may…

  • 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 Progeria Syndrome (HGPS)

    Hutchinson-Gilford Progeria Syndrome (HGPS) Definition and Description of Hutchinson-Gilford Progeria Syndrome (HGPS) Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder characterized by accelerated aging in children. The term “progeria” comes from Greek, meaning “prematurely old.” HGPS is caused by a mutation in the LMNA gene, which produces the Lamin A protein essential for…