Tag: rare diseases

  • Childhood Giant Axonal Neuropathy

    Childhood Giant Axonal Neuropathy Definition and Description of Childhood Giant Axonal Neuropathy Childhood Giant Axonal Neuropathy (CGAN) is a rare inherited neurological disorder primarily affecting children. It is characterized by the abnormal growth of axons—long projections of nerve cells that transmit signals—resulting in progressive muscle weakness and atrophy. The condition is caused by mutations in…

  • CHILD Naevus

    CHILD Naevus Definition and Description of CHILD Naevus CHILD Naevus is a rare congenital skin condition characterized by the presence of large, pigmented nevi or moles on the skin. The term “CHILD” stands for Congenital Hemidysplasia with Ichthyosiform Naevus and Limb Defects. It involves an abnormal growth of skin cells and can also affect other…

  • Chanarin Dorfman Disease

    Chanarin Dorfman Disease Definition and Description of Chanarin Dorfman Disease Chanarin Dorfman Disease, also known as Chanarin-Dorfman syndrome, is a rare inherited condition characterized by a specific combination of symptoms. This disorder primarily affects the metabolism of lipids—fats in the body—leading to various manifestations including adipose tissue abnormalities and ocular problems. The condition is usually…

  • Canavan Disease

    Canavan Disease Definition and Description of Canavan Disease Canavan Disease is a rare genetic disorder categorized as a type of leukodystrophy, characterized by the progressive degeneration of the brain’s white matter. It occurs due to a deficiency of the enzyme aspartoacylase, which is essential for metabolizing N-acetyl aspartate (NAA), a compound found in myelin and…

  • Bullosa Hereditaria

    Bullosa Hereditaria Definition and Description of Bullosa Hereditaria Bullosa Hereditaria, also known as Epidermolysis Bullosa (EB), is a group of rare genetic skin disorders characterized by fragile skin that blisters easily. The term refers to a set of inherited conditions where mutations in specific genes cause the skin to be unable to withstand normal friction…

  • C1-INH

    C1-INH Definition and Description of C1-INH C1-INH, or C1 inhibitor, is a crucial protein in the human body that plays a vital role in regulating the complement and coagulation systems. It is responsible for inhibiting various enzymes involved in inflammation and blood clotting, thereby maintaining homeostasis. A deficiency or dysfunction in C1-INH can lead to…

  • Bartter’s Syndrome

    Bartter’s Syndrome Definition and Description of Bartter’s Syndrome Bartter’s Syndrome is a rare, inherited kidney disorder characterized by a defect in the tubules of the kidneys. This defect impairs the body’s ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes. Patients with Bartter’s Syndrome typically experience symptoms of hypokalemia (low potassium levels),…

  • Batten Disease

    Batten Disease Definition and Description of Batten Disease Batten Disease, scientifically known as Neuronal Ceroid Lipofuscinosis (NCL), is a rare genetic disorder that primarily affects the nervous system. It is characterized by the accumulation of lipopigments in the body’s tissues, causing progressive neurological degeneration. This condition is most commonly diagnosed in children and leads to…

  • Arginase Deficiency

    Arginase Deficiency Definition and Description of Arginase Deficiency Arginase Deficiency is a rare inherited metabolic disorder that prevents the body from breaking down a specific amino acid called arginine. This condition belongs to a group of disorders known as urea cycle disorders, which interfere with the body’s ability to remove ammonia, a toxic byproduct of…

  • Argininemia

    Argininemia Definition and Description of Argininemia Argininemia is a rare autosomal recessive disorder primarily affecting the metabolism of the amino acid arginine. It is classified as a urea cycle disorder, wherein the body is unable to adequately process nitrogen, leading to an accumulation of toxic substances. This condition is caused by a deficiency of the…