Rare diseases

From WikiMD Wellnesspedia & World Directory

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


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

List of rare diseases

























Categories of rare diseases


Latest articles - Rare diseases

Clinical trials

NIH genetic and rare disease info

Rare diseases is a rare disease.

WikiMD - Poll
Do you like WikiMD?
You voted for "Yes, this wiki is awesome." on 10 September 2022 at 03:33. You can change your vote by clicking a different answer below.
You are not entitled to view results of this poll.
There were 3 votes since the poll was created on 22:09, 3 September 2022.
poll-id 416D03F84C2DCFE212974D85DB270D9E

Navigation: Health Encyclopedia - Health topics - Disease Index‏‎ - Cases - Drugs - Rare diseases - Gray's Anatomy - USMLE - All Pages

Wellness: Obesity - W8MD weight loss diet - Metabolic syndrome - Insulin resistance - Weight loss - Wellness

Directories: Doctors - Hospitals - Medical schools - Residency programs - Pharmaceutical companies

WikiMD's articles are provided for informational purposes only with no expressed or implied warranties.
The articles may contain errors or omissions and is not a substitute for professional medical advice. See full disclaimer.

Tired of being Overweight? Want to lose weight with insurance?
W8MD's physician weight loss available in PA, NJ & NY. Call (718)946-5500