Güncel & Güvenilir

Kategori: Diseases & Conditions

Forbes Disease

Synonyms of Forbes Disease Amylo-1,6-Glucosidase Deficiency Cori Disease Debrancher Deficiency Glycogenosis Type III Glycogen Storage Disease III Limit Dextrinosis Disorder Subdivisions General DiscussionForbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme […]


Synonyms of Fucosidosis Alpha-L-Fucosidase Deficiency Disorder Subdivisions Fucosidosis Type 1 Fucosidosis Type 2 Fucosidosis Type 3 (proposed) General DiscussionFucosidosis is a rare genetic disorder characterized by deficiency of the enzyme alpha-L-fucosidase, which is required to break down (metabolize) certain complex compounds (e.g., fucose-containing glycolipids or fucose-containing glycoproteins). Fucose is a type of the sugar required […]


Synonyms of Gastroschisis Abdominal Wall Defect Aparoschisis Disorder Subdivisions General DiscussionGastroschisis is a rare congenital disorder in which a defect is present in the wall of the abdomen. Typically there is a small abdominal cavity with herniated abdominal organs that usually appear on the right side of the abdomen. There is no membranous sac covering […]

Glutaricaciduria II

Synonyms of Glutaricaciduria II Electron Transfer Flavoprotein, Deficiency of Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase, Deficiency of GA II Glutaricacidemia II Glutaric Acidemia II Glutaric Aciduria II MADD Multiple Acyl-Co-A Dehydrogenation Deficiency Disorder Subdivisions General DiscussionGlutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an […]

Granulomatous Disease, Chronic

Synonyms of Granulomatous Disease, Chronic CGD Chronic Dysphagocytosis Chronic Granulomatous Disease Congenital Dysphagocytosis Fatal Granulomatous Disease of Childhood Granulomatosis, Chronic, Familial Granulomatosis, Septic, Progressive Impotent Neutrophil Syndrome Disorder Subdivisions General DiscussionChronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood corpuscles (neutrophils, monocytes, macrophages, eosinophils). The disorder is […]

Hajdu Cheney Syndrome

Synonyms of Hajdu Cheney Syndrome acro-dento-osteo-dysplasia acroosteolysis dominant type acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia Cheney syndrome HCS Disorder Subdivisions General DiscussionHajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost […]

Hematuria, Benign, Familial

Synonyms of Hematuria, Benign, Familial Hematuria, Benign, Recurrent Hematuria, Essential Nephropathy, Thin-Basement-Membrane Nephropathy, Thin Glomerular Basement Membrane Disease Disorder Subdivisions General DiscussionBenign familial hematuria, also known as thin-basement-membrane nephropathy, is a kidney disease that usually begins during childhood. The disorder is characterized by the presence of red blood cells in the urine (hematuria). The blood […]

Hermansky Pudlak Syndrome

Synonyms of Hermansky Pudlak Syndrome Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells Delta Storage Pool Disease HPS Disorder Subdivisions General DiscussionHermansky-Pudlak Syndrome is a rare, hereditary disorder that consists of three characteristics: lack of skin pigmentation (albinism), blood platelet dysfunction with prolonged bleeding, and visual impairment. Some patients have lung fibrosis, colitis, or an […]

Human Granulocytic Ehrlichiosis (HGE)

Synonyms of Human Granulocytic Ehrlichiosis (HGE) HGE Human Ehrlichial Infection, Human Granulocytic Type Disorder Subdivisions General DiscussionHuman Granulocytic Ehrlichiosis (HGE) is a rare infectious disease that belongs to a group of diseases known as the Human Ehrlichioses. The Ehrlichioses are infectious diseases caused by bacteria in the Ehrlichia family. Several forms of Human Ehrlichial infection […]

Hyperhidrosis, Primary

Synonyms of Hyperhidrosis, Primary Disorder Subdivisions Generalized Hyperhidrosis General DiscussionPrimary hyperhidrosis is a rare disorder characterized by excessive sweating without known cause on the palms of the hands, the soles of the feet, in the armpits (axillary), in the groin area, and/or under the breasts. The exact cause of primary hyperhidrosis is not known. When […]

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