- Adrenoleukodystrophy.
- Alpha-1 Antitrypsin Deficiency.
- Bare Lymphocyte Syndrome (BLS)
- Bone Marrow Failure Disorders.
- Byler Disease.
- CANDLE Syndrome.
- Chronic Granulomatous Disease (CGD)
- Chronic & Acute Recurrent Pancreatitis.
People also ask
What are the most rare diseases?
Some of the most well-known rare diseases are:
Ehlers –Danlos Syndrome (EDS)
Sickle Cell.
Cystic Fibrosis.
Duchenne Muscular Dystrophy (DMD)
Haemophilia.
What is every life rare disease?
The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.
Are 72% of rare diseases genetic?
72% of rare diseases are of genetic origin of which 80% of mutations are inherited, mostly associated with rare cancers, whereas the remaining percentage are caused by infections, allergens, or other environmental factors.
How many rare diseases are there globally?
By definition, rare diseases affect a small number of individuals (fewer than 1 in 2000 people in any WHO region); yet, with more than 7000 types of rare disease in existence, the burden worldwide is not insignificant. To date, approximately 300 million people live with rare diseases.
Need more help? · 47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog ...
Rare Diseases · Acquired Hemophilia · Acute Intermittent Porphyria · ALA Dehydratase Deficiency Porphyria · Aplastic Anemia · Bernard-Soulier Syndrome · Chester ...
Rare Disease Database · Acquired Aplastic Anemia · Acquired Hemophilia · Acquired Lipodystrophy · Acquired Neuromyotonia · Acrocallosal Syndrome, Schinzel Type.
Browse by Disease - Genetic and Rare Diseases Information Center
rarediseases.info.nih.gov › diseases
Browse by Disease. Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD ...
Rare Disease List · 15q 26.2 Deletion · 48,XXYY Syndrome · Abetalipoproteinemia · Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP) · Acute Flaccid ...
B · Bachmann-Bupp syndrome · Balo concentric sclerosis · Banki syndrome · Batten disease ; D · D-Glyceric acidemia · Danon disease · Darier's disease · GLUT1 ...
Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems ...
What are the most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.
Related searches
Related conditions
For informational purposes only. Consult your local medical authority for advice.