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Rare diseases

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Genetic and Rare Diseases Information Center, is a program of the National Center for Advancing and Translational Sciences in the United States.

Diseases

GARD maintains a list of rare diseases and related terms to help people find reliable information. In the United States, a rare disease is defined as one that affects fewer than 200,000 people. The prevalence of a rare disease usually is an estimate and may change over time. Inclusion in GARD's list does not serve as official recognition by the NIH as a rare disease and should not be used to assume that a disease is rare.

Glossary of rare diseases

  • abetalipoproteinemia -  a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
  • achondroplasia -  an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
  • amyotrophic lateral sclerosis -  thickening of tissue in the motor tracts of the lateral columns and anterior horns of the spinal cord; results in progressive muscle atrophy that starts in the limbs
  • carcinosarcoma -  a malignant neoplasm composed of carcinoma and sarcoma extensively intermixed
  • cystic fibrosis -  the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; there is no cure
  • diabetes insipidus -  a rare form of diabetes resulting from a deficiency of vasopressin (the pituitary hormone that regulates the kidneys); characterized by the chronic excretion of large amounts of pale dilute urine which results in dehydration and extreme thirst
  • diethylstilbestrol -  a potent estrogen used in medicine and in feed for livestock and poultry
  • dracunculiasis -  a painful and debilitating infestation contracted by drinking stagnant water contaminated with Guinea worm larvae that can mature inside a human's abdomen until the worm emerges through a painful blister in the person's skin
  • ewing's sarcoma -  malignant tumor in bone marrow (usually in the pelvis or in long bones)
  • friedreich's ataxia -  sclerosis of the posterior and lateral columns of the spinal cord; characterized by muscular weakness and abnormal gait; occurs in children
  • hemoglobinemia -  presence of excessive hemoglobin in the blood plasma
  • hermaphrodite - adj. of animal or plant; having both male female reproductive organs* ;  one having both male and female sexual characteristics and organs; at birth an unambiguous assignment of male or female cannot be made
  • hirschsprung's disease -  congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
  • hypoparathyroidism -  inadequate secretion of parathyroid hormone resulting in abnormally low levels of calcium in the blood
  • immunodeficiency -  immunological disorder in which some part of the body's immune system is inadequate and resistance to infectious diseases is reduced
  • kaposi's sarcoma -  a sarcoma that starts with purplish spots on the feet and legs and spreads from the skin to lymph nodes and internal organs; a common manifestation of AIDS
  • keratomalacia -  softening and drying and ulceration of the cornea resulting from vitamin A deficiency; symptom of cystic fibrosis or sprue
  • klinefelter syndrome -  syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male
  • leiomyosarcoma -  sarcoma of smooth muscle; occurs most often digestive tract or uterus or bladder or prostate
  • lymphocytopenia -  an abnormally small number of lymphocytes in the circulating blood
  • malignant hyperthermia -  hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
  • maple syrup urine disease -  an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
  • mesothelioma -  a rare form of carcinoma of the mesothelium lining lungs or abdomen or heart; usually associated with exposure to asbestos dust
  • myotonia congenita -  a mild, rare, congenital form of myotonia characterized by muscle stiffness
  • neuroblastoma -  malignant tumor containing embryonic nerve cells; usually metastasizes quickly
  • oculopharyngeal muscular dystrophy -  a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant
  • osteogenesis imperfecta -  autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
  • osteopetrosis -  an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
  • phenylketonuria -  a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
  • pheochromocytoma -  a vascular tumor of the adrenal gland; hypersecretion of epinephrine results in intermittent or sustained hypertension
  • pick's disease -  a progressive form of presenile dementia found most often in middle-aged and elderly women and characterized by degeneration of the frontal and temporal lobes with loss of intellectual ability and transitory aphasia
  • pre-eclampsia -  abnormal state of pregnancy characterized by hypertension and fluid retention and albuminuria; can lead to eclampsia if untreated
  • progressive vaccinia -  a severe or even fatal form of vaccinia that occurs mainly in persons with an immunological deficiency; characterized by progressive enlargement of the initial lesion
  • pseudohermaphroditism -  congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex
  • pycnodysostosis -  a form of dwarfism accompanied by fragile bones and bad teeth
  • retinoblastoma -  malignant ocular tumor of retinal cells; usually occurs before the third year of life; composed of primitive small round retinal cells
  • sachs disease -  a hereditary disorder of lipid metabolism occuring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
  • salivary gland -  any of three pairs of glands in the mouth and digestive system that secrete saliva for digestion
  • scarlet fever -  an acute communicable disease (usually in children) characterized by fever and a red rash
  • severe combined immunodeficiency -  a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
  • small cell carcinoma -  highly malignant carcinoma composed of small round or egg-shaped cells with little cytoplasm; lung cancers are frequently oat cell carcinomas
  • subacute sclerosing panencephalitis -  a rare chronic progressive encephalitis caused by the measles virus and occurring primarily in children and young adults; death usually occurs within three years; characterized by primary measles infection before the age of two years
  • williams syndrome -  a rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary
  • wilms' tumor -  malignant renal tumor of young children characterized by hypertension and blood in the urine and the presence of a palpable mass
  • wilson's disease -  a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
  • xeroderma pigmentosum -  a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processes are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light

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