Tag: rare diseases

  • Ohio Type Amyloidosis (Type VII)

    Ohio Type Amyloidosis (Type VII): Definition and Description of Ohio Type Amyloidosis (Type VII): Ohio Type Amyloidosis, also referred to as Type VII, is a rare form of amyloidosis characterized by the deposition of amyloid protein in various tissues and organs within the body, leading to impairment of normal function. It is part of a…

  • Non-Scarring Epidermolysis Bullosa

    Non-Scarring Epidermolysis Bullosa: Definition and Description of Non-Scarring Epidermolysis Bullosa: Non-Scarring Epidermolysis Bullosa (non-scarring EB) is a rare genetic skin disorder characterized by fragile skin that blisters easily, particularly in response to injury or friction. Unlike other forms of epidermolysis bullosa, non-scarring EB does not lead to permanent scarring on the skin. The condition results…

  • Nocardiosis

    Nocardiosis: Definition and Description of Nocardiosis: Nocardiosis is a rare infectious disease caused by bacteria belonging to the genus Nocardia. These are gram-positive, aerobic actinomycetes found in soil, decaying organic matter, and water. The disease primarily affects the lungs but can also impact the brain, skin, and other organs. Nocardiosis can manifest as a pulmonary…

  • NDI

    NDI: Definition and Description of NDI: NDI, or Nephrogenic Diabetes Insipidus, is a rare disorder characterized by the kidney’s inability to concentrate urine in response to the hormone vasopressin (also known as antidiuretic hormone, ADH). This condition leads to an inability to retain water, resulting in excessive urination (polyuria) and thirst (polydipsia). Unlike diabetes mellitus,…

  • Multiple Sulfatase Deficiency

    Multiple Sulfatase Deficiency: Definition and Description of Multiple Sulfatase Deficiency: Multiple Sulfatase Deficiency (MSD) is a rare lysosomal storage disorder characterized by the deficient activity of arylsulfatase enzymes, which are essential for the breakdown of sulfated compounds in the body. This condition leads to the accumulation of unmetabolized substrates in various tissues, resulting in a…

  • MPS

    MPS: Definition and Description of MPS: MPS, or Mucopolysaccharidosis, refers to a group of inherited metabolic disorders caused by the body’s inability to properly break down certain types of carbohydrates known as glycosaminoglycans (GAGs). These complex molecules are essential for the structure and function of connective tissues. In individuals with MPS, the accumulation of GAGs…

  • MPS Disorder

    MPS Disorder: Definition and Description of MPS Disorder: MPS Disorder, or mucopolysaccharidosis, is a group of inherited metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes responsible for breaking down mucopolysaccharides, also known as glycosaminoglycans. These complex carbohydrates accumulate in the body and lead to progressive damage in various organs and tissues. Symptoms…

  • Mucopolysaccharidosis Type II

    Mucopolysaccharidosis Type II: Definition and Description of Mucopolysaccharidosis Type II: Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which plays a crucial role in breaking down glycosaminoglycans (GAGs).…

  • Multiple Lentigines Syndrome

    Multiple Lentigines Syndrome: Definition and Description of Multiple Lentigines Syndrome: Multiple Lentigines Syndrome, also known as Leopard Syndrome, is a rare genetic condition characterized by the appearance of multiple lentigines, which are small, flat, brown or black spots that resemble freckles. These pigmented lesions primarily appear on the face, neck, and upper body but can…

  • Mixed Hepatic Porphyria

    Mixed Hepatic Porphyria: Definition and Description of Mixed Hepatic Porphyria: Mixed Hepatic Porphyria is a rare genetic disorder that affects the body’s ability to produce heme, an essential component of hemoglobin in red blood cells. This condition results from mutations that disrupt the enzymatic processes involved in heme synthesis, particularly affecting the liver. Individuals with…