Rare diseases
From WikiMD's Wellness Encyclopedia
Genetic and Rare Diseases Information Center, is a program of the National Center for Advancing and Translational Sciences in the United States.
Rare diseases[edit | edit source]
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. There are approximately 7,000 rare diseases known to affect humans, and it is estimated that 350 million people worldwide are affected by a rare disease.
Challenges[edit | edit source]
One of the major challenges with rare diseases is their diverse and complex nature. Many rare diseases are genetic in nature and are caused by mutations in specific genes. These genetic mutations can result in a wide range of symptoms and can affect various organ systems in the body. For example, cystic fibrosis, a rare genetic disease, causes chronic lung infections and can affect the pancreas, liver, and intestines, while others like Progeria, a rare genetic disorder characterized by an appearance of accelerated aging.
Lack of awareness[edit | edit source]
Another challenge with rare diseases is the lack of understanding and awareness among healthcare professionals and the general public. Many rare diseases are misdiagnosed or not diagnosed at all, leading to delays in treatment and poor patient outcomes. This is partly due to the fact that many rare diseases are so rare that healthcare professionals may never encounter a case in their careers.
Diagnosis[edit | edit source]
Diagnosis of rare diseases can also be a significant challenge. Many rare diseases have overlapping symptoms with more common diseases, making it difficult to diagnose them accurately. In addition, diagnostic tools such as genetic testing can be expensive and may not be widely available.
Treatment[edit | edit source]
Treatment of rare diseases can also be difficult. Many rare diseases do not have FDA-approved treatments, and many drugs used to treat these diseases are "off-label" or used without FDA approval. This can make it difficult for patients to access appropriate treatment and can also limit the ability of healthcare professionals to provide adequate care.
Research[edit | edit source]
Research into rare diseases is also limited due to the small patient population and lack of funding. This can make it difficult to develop new treatments and therapies for these diseases.
The Orphan Drug Act[edit | edit source]
Despite these challenges, there has been progress in the field of rare disease research in recent years. The Orphan Drug Act, passed in 1983, provides financial incentives for pharmaceutical companies to develop treatments for rare diseases and has led to the approval of hundreds of drugs for rare diseases. In addition, advances in genetic testing have led to a greater understanding of the underlying causes of many rare diseases.
Glossary of rare diseases[edit | edit source]
- 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
- chondrosarcoma - a malignant neoplasm of cartilage cells
- chronic lymphocytic leukemia - chronic leukemia characterized by lymphoblast-like cells; more common in older men
- cyclic neutropenia - neutropenia that occurs periodically
- 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
- gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
- 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
- leonard bernstein - United States conductor and composer (1918-1990)
- 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
- musicogenic epilepsy - reflex epilepsy induced by music
- myotonia congenita - a mild, rare, congenital form of myotonia characterized by muscle stiffness
- nephrogenic diabetes insipidus - diabetes insipidus caused by a failure of the kidney to respond to normal levels of vasopressin
- 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
- rhabdomyosarcoma - a highly malignant neoplasm derived from striated muscle
- 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
- trigeminal neuralgia - intense paroxysmal neuralgia along the trigeminal nerve
- 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[edit | edit source]
A[edit | edit source]
- Acquired hemophilia A
- Acral lentiginous melanoma
- Acromegaly
- Acute intermittent porphyria
- Acute lymphoblastic leukemia
- Acute myeloid leukemia
- Acute promyelocytic leukemia
- Adenosine deaminase deficiency
- Adult-onset citrullinemia type II
- Alpha-1 antitrypsin deficiency
- Alpha-thalassemia
- Alveolar capillary dysplasia
- Amebiasis
- AML with myelodysplasia-related features
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 10
- Amyotrophic lateral sclerosis type 11
- Amyotrophic lateral sclerosis type 2
- Amyotrophic lateral sclerosis type 3
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis type 5
- Amyotrophic lateral sclerosis type 6
- Amyotrophic lateral sclerosis type 7
- Amyotrophic lateral sclerosis type 8
- Amyotrophic lateral sclerosis type 9
- Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
- Anaplastic large cell lymphoma
- Anaplastic thyroid cancer
- Anterior uveitis
- Anthrax
- Aortic aneurysm, familial thoracic 4
- Aplastic anemia
- Arginase deficiency
- Argininosuccinic aciduria
- Aspergillosis
- Atypical hemolytic uremic syndrome
- Autosomal dominant polycystic kidney disease
- Autosomal dominant type B hypercholesterolemia
- Autosomal recessive juvenile Parkinson disease
B[edit | edit source]
- Barrett esophagus
- B-cell lymphoma
- Benign essential blepharospasm
- Beta-thalassemia
- Bidirectional tachycardia
- Bile acid synthesis defect, congenital, 4
- Bladder cancer
- Blastic plasmacytoid dendritic cell
- Botulism
- BRCA1 hereditary breast and ovarian cancer syndrome
- BRCA2 hereditary breast and ovarian cancer syndrome
C[edit | edit source]
- Carbamoyl phosphate synthetase 1 deficiency
- Carcinoid syndrome
- Carcinoid tumor
- Carcinoid tumor childhood
- Cardiomyopathy due to anthracyclines
- Catecholaminergic polymorphic ventricular tachycardia
- CDK4 linked melanoma
- Cerebral palsy
- Chagas disease
- Char syndrome
- Childhood acute lymphoblastic leukemia
- Childhood hypophosphatasia
- Cholesteryl ester storage disease
- Chromophil renal cell carcinoma
- Chromophobe renal cell carcinoma
- Chronic graft versus host disease
- Chronic granulomatous disease
- Chronic inflammatory demyelinating polyneuropathy
- Chronic lymphocytic leukemia
- Chronic myeloid leukemia
- Chronic myeloproliferative disorders
- Citrullinemia type I
- Clear cell renal cell carcinoma
- Coccidioidomycosis
- Colorectal cancer, childhood
- Common variable immunodeficiency
- Congenital bile acid synthesis defect, type 1
- Congenital bile acid synthesis defect, type 2
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy type 2
- Congenital generalized lipodystrophy type 4
- Congenital herpes simplex
- Congenital sucrase-isomaltase deficiency
- Crohn's disease
- Cryopyrin-associated periodic syndrome
- Cryptococcosis
- Cryptosporidiosis
- Cushing's syndrome
- Cutaneous T-cell lymphoma
- Cystic fibrosis
- Cysticercosis
- Cystinosis
- Cystinuria
- Cytomegalovirus retinitis
D[edit | edit source]
- Dermatofibrosarcoma protuberans
- Diffuse gastric cancer
- Diffuse Large B-Cell Lymphoma
- Digestive System Melanoma
- Disseminated infection with mycobacterium avium complex
- Dopamine beta hydroxylase deficiency
- Dravet syndrome
- Duchenne muscular dystrophy
- Duodenal carcinoid syndrome
- Dystonia 2, torsion, autosomal recessive
- DYT-TOR1A
E[edit | edit source]
- Endemic Kaposi sarcoma
- Enthesitis-related juvenile idiopathic arthritis
- Eosinophilic granulomatosis with polyangiitis
- Erdheim-Chester disease
- Esophageal cancer
- Esophageal varices
- Essential thrombocythemia
- Ewing sarcoma
- Ewing's family of tumors
F[edit | edit source]
- Fabry disease
- Factor VII deficiency
- Factor X deficiency
- Factor XIII deficiency
- Fallopian tube cancer
- Familial cold autoinflammatory syndrome
- Familial colorectal cancer
- Familial hypercholesterolemia
- Familial hypertrophic cardiomyopathy
- Familial isolated hyperparathyroidism
- Familial Mediterranean fever
- Familial prostate cancer
- Familial pulmonary arterial hypertension leucopenia and atrial septal defect
- Familial transthyretin amyloidosis
- Familial ventricular tachycardia
- Fibrinogen deficiency, congenital
- Focal dystonia
- Follicular lymphoma
G[edit | edit source]
- Gastro-enteropancreatic neuroendocrine tumor
- Gastrointestinal Stromal Tumors
- Gaucher disease
- Gaucher disease type 1
- Glanzmann thrombasthenia
- Glioblastoma
- Glioma
- Glycogen storage disease type 2
- Gorlin Chaudhry Moss syndrome
- Granulomatosis with polyangiitis
- Growth hormone deficiency
- Growth hormone insensitivity with immunodeficiency
H[edit | edit source]
- Hairy cell leukemia
- Hansen's disease
- Hemangioma
- Hemolytic uremic syndrome, atypical, childhood
- Hemophagocytic lymphohistiocytosis
- Hemophagocytic lymphohistiocytosis, familial, 2
- Hemophagocytic lymphohistiocytosis, familial, 3
- Hemophagocytic lymphohistiocytosis, familial, 4
- Hemophilia A
- Hemophilia B
- Heparin-induced thrombocytopenia
- Hepatic encephalopathy
- Hereditary angioedema
- Hereditary antithrombin deficiency
- Hereditary antithrombin deficiency type 2
- Hereditary antithrombin deficiency type I
- Hereditary diffuse gastric cancer
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary orotic aciduria without megaloblastic anaemia
- Hereditary paraganglioma-pheochromocytoma
- Hereditary renal cell carcinoma
- Herpes simiae (B virus)
- Herpes simplex encephalitis
- Herpes zoster oticus
- Herpesvirus simiae B virus
- Hidradenitis suppurativa
- HIV/AIDS
- Hodgkin lymphoma
- Hodgkin lymphoma, childhood
- Homocystinuria
- Homocystinuria due to CBS deficiency
- Homocystinuria due to defect in methylation cbl e
- Homocystinuria due to defect in methylation cbl g
- Homocystinuria due to MTHFR deficiency
- Huntington disease
- Hurthle cell thyroid cancer
- Hydatidosis
- Hypereosinophilic syndrome
- Hyper-IgD syndrome
- Hyperkalemic periodic paralysis
- Hypokalemic periodic paralysis
- Hypophosphatasia
I[edit | edit source]
- Idiopathic pulmonary fibrosis
- Idiopathic thrombocytopenic purpura
- Infantile apnea
- Interstitial cystitis
- Intraocular melanoma
J[edit | edit source]
K[edit | edit source]
L[edit | edit source]
- Lambert Eaton myasthenic syndrome
- Langer mesomelic dysplasia
- Laron syndrome
- Leber congenital amaurosis
- Leber congenital amaurosis 2
- Leiomyosarcoma
- Leishmaniasis
- Lennox-Gastaut syndrome
- Lentigo maligna melanoma
- Leri Weill dyschondrosteosis
- Leukemia, B-cell, chronic
- Liposarcoma
- Lymphangioleiomyomatosis
- Lymphoblastic lymphoma
- Lynch syndrome
- Lysosomal acid lipase deficiency
M[edit | edit source]
- Malaria
- Malignant hyperthermia
- Malignant melanoma, childhood
- Malignant mesothelioma
- Mantle cell lymphoma
- Marginal zone lymphoma
- Mastocytosis
- Mastocytosis cutaneous with short stature conductive hearing loss and microtia
- Melanoma astrocytoma syndrome
- Melanoma, familial
- Merkel cell carcinoma
- Methylmalonic acidemia and homocysteinemia type cblX
- Methylmalonic acidemia with homocystinuria
- Methylmalonic acidemia with homocystinuria type cblC
- Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic acidemia with homocystinuria type cblF
- Methylmalonic acidemia with homocystinuria type cblJ
- Microscopic polyangiitis
- Mild phenylketonuria
- Muckle-Wells syndrome
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type IVA
- Mucopolysaccharidosis type VI
- Mucopolysaccharidosis type VII
- Multicentric Castleman Disease
- Multiple endocrine neoplasia type 2A
- Multiple myeloma
- Multiple sclerosis
- Myasthenia gravis
- Mycobacterium Avium Complex infections
- Mycosis fungoides
- Myelodysplastic syndromes
- Myelodysplastic/myeloproliferative disease
- Myelofibrosis
- Myopathic carnitine deficiency
N[edit | edit source]
- N-acetylglutamate synthase deficiency
- Narcolepsy
- Natal teeth, intestinal pseudoobstruction and patent ductus
- Neonatal Onset Multisystem Inflammatory disease
- Neonatal severe hyperparathyroidism
- Nephropathic cystinosis
- Neuroblastoma
- Neuronal ceroid lipofuscinosis 2
- Nodular melanoma
- Non 24 hour sleep wake disorder
- Noonan syndrome
- Noonan syndrome 1
- Noonan syndrome 2
- Noonan syndrome 3
- Noonan syndrome 4
- Noonan syndrome 5
- Noonan syndrome 6
O[edit | edit source]
- Ocular melanoma
- Onchocerciasis
- Ornithine transcarbamylase deficiency
- Orotic aciduria type 1
- Oslam syndrome
- Osteopetrosis
- Osteopetrosis and infantile neuroaxonal dystrophy
- Osteopetrosis autosomal dominant type 1
- Osteopetrosis autosomal dominant type 2
- Osteopetrosis autosomal recessive 3
- Osteopetrosis autosomal recessive 5
- Osteopetrosis autosomal recessive 7
- Osteosarcoma
- Ovarian cancer
- Ovarian epithelial cancer
P[edit | edit source]
- Paget disease of bone
- Paget disease of bone, familial
- Pancreatic cancer
- Panuveitis
- Papillary renal cell carcinoma
- Papillary thyroid carcinoma
- Paraganglioma and gastric stromal sarcoma
- Parathyroid carcinoma
- Parkinson disease
- Parkinson disease type 3
- Parkinson disease type 9
- Paroxysmal nocturnal hemoglobinuria
- Pars planitis
- Patent ductus arteriosus
- Pediatric Crohn's disease
- Pediatric hypertension
- Pediatric ulcerative colitis
- Pemphigus vulgaris
- Peripheral T-cell lymphoma
- Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Phenylketonuria
- Pheochromocytoma
- Pheochromocytoma, childhood
- Pheochromocytoma-islet cell tumor syndrome
- Philadelphia-negative chronic myeloid leukemia
- Pneumocystis jirovecii pneumonia
- Polyarticular onset juvenile idiopathic arthritis
- Polycythemia vera
- Posterior uveitis
- Prader-Willi syndrome
- Precocious puberty
- Premature aging Okamoto type
- Primary biliary cholangitis
- Primary carnitine deficiency
- Primary hyperparathyroidism
- Primary liver cancer
- Primary malignant melanoma of the cervix
- Primary malignant melanoma of the conjunctiva
- Protein C deficiency
- Psoriatic juvenile idiopathic arthritis
- Pulmonary arterial hypertension
- Pure autonomic failure
R[edit | edit source]
- Renal cell carcinoma 4
- Respiratory distress syndrome, infant
- Retinitis pigmentosa
- Retinitis Pigmentosa 20
- ROHHAD
S[edit | edit source]
- Scurvy
- Severe combined immunodeficiency
- Sezary syndrome
- Short bowel syndrome
- Sickle cell anemia
- Sjogren syndrome
- Small cell lung cancer
- Soft tissue sarcoma
- Soft tissue sarcoma childhood
- Spinal muscular atrophy
- Spinal muscular atrophy 1
- Spinal muscular atrophy type 2
- Spinal muscular atrophy type 3
- Spinal muscular atrophy type 4
- Squamous cell carcinoma
- Squamous cell carcinoma of the head and neck
- Status epilepticus
- Stomach cancer
- Stomach cancer, childhood
- Subependymal giant cell astrocytoma
- Superficial spreading melanoma
- Systemic mastocytosis
T[edit | edit source]
- T-cell lymphoma 1A
- Testicular cancer
- Therapy related acute myeloid leukemia and myelodysplastic syndrome
- Thrombotic thrombocytopenic purpura, acquired
- Thyroid cancer, follicular
- Thyroid cancer, medullary
- Tièche-Jadassohn nevus
- Tourette syndrome
- Transverse myelitis
- Trichuriasis
- Trypanosomiasis, Human West-African
- Tuberculosis
- Tuberous sclerosis
- Tuberous sclerosis, type 1
- Tuberous sclerosis, type 2
- Tumor necrosis factor receptor-associated periodic syndrome
- Turner syndrome
- Tyrosinemia type 1
U[edit | edit source]
V[edit | edit source]
W[edit | edit source]
X[edit | edit source]
Z[edit | edit source]
Categories of rare diseases[edit | edit source]
Summary[edit | edit source]
Fare diseases are a diverse and complex group of illnesses that affect a small portion of the population. They present many challenges, including the lack of understanding and awareness among healthcare professionals and the general public, difficulty in diagnosis, lack of FDA-approved treatments, and limited research. However, advances in genetic testing and the Orphan Drug Act have led to greater understanding and treatment options for many rare diseases. Further research, increased awareness and collaborations between healthcare professionals, patient advocacy groups, and the industry are necessary to continue making progress in the field of rare disease.
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NIH genetic and rare disease info[edit source]
Rare diseases is a rare disease.
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