Tag: genetic disorders

  • Sphingomyelinase Deficiency

    Sphingomyelinase Deficiency: Definition and Description of Sphingomyelinase Deficiency: Sphingomyelinase Deficiency, also known as Niemann-Pick Disease type A and B, is a rare genetic disorder characterized by a deficiency of the enzyme sphingomyelinase. This enzyme plays a critical role in lipid metabolism, particularly in breaking down sphingomyelin, a type of lipid found in cell membranes. When…

  • Spherocytic Anemia

    Spherocytic Anemia: Definition and Description of Spherocytic Anemia: Spherocytic Anemia, also known as hereditary spherocytosis, is a type of hemolytic anemia characterized by the presence of spherocytes in the bloodstream. These spherocytes are abnormally shaped red blood cells that are more spherical than the typical disc shape. This shape causes them to be less flexible…

  • Sphingolipidosis 1

    Sphingolipidosis 1: Definition and Description of Sphingolipidosis 1: Sphingolipidosis 1, often referred to as sphingolipidosis, is a group of inherited metabolic disorders that affect the brain, spinal cord, and other organs. These conditions are characterized by the accumulation of sphingolipids—complex lipids that play vital roles in cell signaling and the protective coatings of nerve cells.…

  • Sphingolipidosis, Krabbe’s Type

    Sphingolipidosis, Krabbe’s Type: Definition and Description of Sphingolipidosis, Krabbe’s Type: Sphingolipidosis, Krabbe’s Type, commonly referred to as Krabbe disease, is a rare and inherited neurological disorder that primarily affects the nervous system. It is classified as a lysosomal storage disease, caused by a deficiency of the enzyme galactocerebrosidase (GALC). This deficiency leads to the accumulation…

  • Schereshevkii-Turner Syndrome

    Schereshevkii-Turner Syndrome: Definition and Description of Schereshevkii-Turner Syndrome: Schereshevkii-Turner Syndrome, often referred to simply as Turner Syndrome, is a chromosomal condition that affects development in females. It results from a complete or partial absence of one of the two X chromosomes, which can lead to various physical and developmental traits. Individuals with Turner Syndrome typically…

  • RS, X-Linked

    RS, X-Linked: Definition and Description of RS, X-Linked: RS, X-Linked, commonly known as Rieger syndrome, is a genetic condition characterized by abnormalities in the development of the eyes, teeth, and other organs. This disorder is associated with mutations on the X chromosome, leading to a spectrum of developmental anomalies. Individuals with Rieger syndrome may display…

  • Primary Ciliary Dyskinesia

    Primary Ciliary Dyskinesia: Definition and Description of Primary Ciliary Dyskinesia: Primary Ciliary Dyskinesia (PCD) is a genetic disorder characterized by abnormal ciliary function, which affects the movement of cilia—tiny hair-like structures on the surface of cells. In healthy individuals, cilia play a crucial role in clearing mucus and pathogens from the respiratory tract, assisting in…

  • Pulmonary Lymphangiomyomatosis

    Pulmonary Lymphangiomyomatosis: Definition and Description of Pulmonary Lymphangiomyomatosis: Pulmonary Lymphangiomyomatosis (LAM) is a rare lung disease characterized by the abnormal proliferation of smooth muscle-like cells in the lungs and lymphatic system. This condition primarily affects women, especially during their reproductive years, and leads to the destruction of lung tissue, resulting in progressive respiratory impairment. LAM…

  • Prader-Labhart-Willi Fancone Syndrome

    Prader-Labhart-Willi Fancone Syndrome: Definition and Description of Prader-Labhart-Willi Fancone Syndrome: Prader-Labhart-Willi Fancone Syndrome (PLWFS) is a rare neurogenetic disorder characterized by a combination of symptoms that significantly impact both physical and cognitive aspects of individuals affected by it. This syndrome is associated with genetic anomalies that occur due to the deletion of specific genes on…

  • Pfeiffer Syndrome Type I

    Pfeiffer Syndrome Type I: Definition and Description of Pfeiffer Syndrome Type I: Pfeiffer Syndrome Type I, also known as classic Pfeiffer syndrome, is a genetic disorder characterized by the early fusion of certain skull bones, which affects head shape and can result in a number of associated physical symptoms. This condition is classified as a…