List of Rare Diseases | A-Z Database | NORD
WebA rare disorder is a disease or condition that affects fewer than 200,000 Americans. Cumulatively, there are more than 10,000 rare diseases affecting more than 30 million Americans. NORD is committed to the identification, treatment, and cure of rare …
Acquired Aplastic Anemia
Aplastic anemia may also occur as part of an inherited disorder such as Fanconi …
Abetalipoproteinemia
Previous section; Next section > Causes. Abetalipoproteinemia is caused by …
Ablepharon-Macrostomia Sy…
Previous section; Next section > Causes. AMS is caused by changes (mutations) …
Achalasia
Achalasia is a rare disorder that typically …Aceruloplasminemia
Previous section; Next section > Causes. Aceruloplasminemia is caused by …
Aarskog Syndrome
Previous section; Next section > Causes. Although Aarskog syndrome is a …
Acoustic Neuroma
Headaches may also occur in the absence of hydrocephalus and in some rare …
Angelman Syndrome
Disease Overview. Summary. Angelman syndrome is a rare genetic and …
Acid Sphingomyelinase Defic…
Previous section; Next section > Causes. Acid sphingomyelinase deficiency is …
Diseases - Genetic and Rare Diseases Information Center
WebExplore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy …
Home - Genetic and Rare Diseases Information Center
WebDid you know there are over 10,000 rare diseases? In fact, rare diseases are estimated to affect more than 30 million people in the United States. Each disease may be rare …
Rare diseases
A disease that affects only 5 to 6 % of the population, usually being chronic and/or genetic.
Symptoms : Symptoms vary depending upon the type of disease.
Causes : Causes include genetic disorders, metabolic disorders.
Treatment : Treatment includes novel medications, therapies, which vary widely depending upon the disease.
Common Types
Scleroderma
A group of diseases causing hardening and tightening of skin and connective tissues. It occurs due to over production of the protein called collagen in the sk...
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAcute myeloid leukemia
A type of blood cancer where excess of immature white blood cells or myeloid line of blood-forming cells is made by the bone marrow.
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAddison's disease
A long-term endocrine disorder resulting from insufficient amounts of hormones released by the adrenal glands, a pair of walnut-sized organs above the kidneys.
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAlbinism
An inherited disorder that presents with little or no melanin production, which results in either little or no color to skin, eyes or hair.
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAmyloidosis
A condition in which amyloid proteins build up on organs like heart, kidney and liver. Amyloid is an abnormal protein, and its deposit on the organ c...
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAcromegaly
A rare condition which results from excessive production of growth hormone by the pituitary gland. This causes enlarged bones in face, feet and hands.
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAplastic anemia
A rare disease condition in which the bone marrow does not produce adequate number of new blood cells. This causes tiredness, shortness of breath, rapid hea...
Symptoms · Causes · Diagnosis · Treatment · SpecialistsWilliams syndrome
A rare genetic disorder that causes developmental and learning disabilities.
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAchondroplasia
A type of bone growth disorder. Due to genetic mutations, the cartilage does not convert into a bone during fetal development, resulting in dwarfism.
Symptoms · Causes · Diagnosis · Treatment · SpecialistsAutoimmune hepatitis
A chronic disease that causes inflammation in liver when the body’s immune system attacks liver cells. This results in scarring of the liver and finally ...
Symptoms · Causes · Diagnosis · Treatment · Specialists- People also ask
Dr. Anet Varghese
Doctor of Medicine (MBBS) · 1 years of exp
Ischemic means that an organ (eg, the heart) is not getting enough blood and oxygen. Ischemic heart disease, also called coronary heart disease (CHD) or coronary artery disease, is the term given to heart problems caused by narrowed heart (coronary) arteries that supply blood to the heart muscle. Peripheral vascular disease is the reduced circulation of blood to a body part, other than the brain or heart, due to a narrowed or blocked blood vessel. Risk factors include diabetes, obesity, smoking and a sedentary lifestyle. Treatment may include procedures to widen the artery, medications to reduce the build-up of fatty deposits within blood vessels, and lifestyle changes such as weight loss and regular exercise.Q&A: Ischemiamicrosoftstart.msn.com WebAs new scientific knowledge arises, the Orphanet nomenclature of rare diseases is updated via the regular addition of new diseases or the modification of existing diseases. The …
National Organization for Rare Disorders | NORD
WebMay 10, 2024 · List of Rare Diseases; Gene Therapy for Rare Disease; Find Clinical Trials & Research Studies; For researchers. Request for Proposals; Research Grant Programs; …
Rare disease - Wikipedia
WebRare disease. A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose …
RARe-SOURCE | Browse Diseases - National Institutes of Health
WebBrowse Rare Disease Information. The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features …
About - Genetic and Rare Diseases Information Center
WebGARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases. This includes names, synonyms, …
Rare Diseases: MedlinePlus
WebJun 5, 2017 · Summary. A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases: May involve …
Orphanet : Diseases
WebThe Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. A …
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