Famous Rare Diseases
Famous Rare Diseases is a structured health & wellness dataset with 20 entries. Its fields include Disease, Cause, Prevalence. The source values are preserved as a structured reference table.
Every row is shown below and is also available as CSV, JSON, or Excel.
Dataset details
- Table scope
- All 20 rows
- Fields
- 6 columns
- Source
- Community curated
- Data updated
- Apr 9, 2026
Included fields: Disease, Cause, Prevalence, Typical Onset, Life Expectancy, and 1 more.
The table contains every record in this dataset; the same records are available in each download format.
Preview observations
No reliable range or grouping can be calculated from the loaded rows without interpreting the source data.
Useful for
- Comparing Disease, Cause, and Prevalence across health & wellness entries
- Building reference tables, charts, or analyses from 20 downloadable records
Disease↕ | Cause↕ | Prevalence↕ | Typical Onset↕ | Life Expectancy↕ | Known For↕ |
|---|---|---|---|---|---|
Progeria (Hutchinson-Gilford) | LMNA gene mutation (lamin A) | ~1 in 4 million | First year of life | ~14-15 years | Accelerated aging in children, featured in Sam Berns TED talk, lonafarnib first approved treatment |
Fatal Familial Insomnia | PRNP prion protein mutation | ~40 families worldwide | Middle age | ~7-18 months after onset | Prion disease causing progressive insomnia and death, no treatment, chronicled in book The Family That Couldn't Sleep |
Fibrodysplasia Ossificans Progressiva (FOP) | ACVR1 gene mutation | ~1 in 2 million | Early childhood | ~40 years | Stone man syndrome - muscles and connective tissue turn to bone, any injury triggers more ossification |
Huntington's Disease | HTT gene CAG repeat expansion | ~5-10 per 100,000 | 30-50 years old | ~15-20 years after onset | Dominantly inherited neurodegeneration, chorea movements, Woody Guthrie famous sufferer |
Amyotrophic Lateral Sclerosis (ALS) | Motor neuron degeneration (often idiopathic) | ~2 per 100,000 per year | 50-70 years | ~2-5 years | Lou Gehrig's disease, Stephen Hawking exception, ice bucket challenge fundraising phenomenon |
Cystic Fibrosis | CFTR gene mutation | ~1 in 2,500 births in Caucasians | Birth/early life | ~50 years with modern care | Thick mucus in lungs and pancreas, CFTR modulators (Trikafta) transformed prognosis |
Sickle Cell Disease | HBB gene point mutation | ~100,000 in US, millions globally | Infancy | ~40-60 years | Crescent-shaped red blood cells, pain crises, CRISPR gene therapy approved in 2023 (Casgevy) |
Duchenne Muscular Dystrophy | DMD gene (dystrophin) | ~1 in 3,500 male births | Ages 2-5 | ~25-30 years | X-linked, progressive muscle weakness in boys, wheelchair by teens, exon-skipping drugs emerging |
Tay-Sachs Disease | HEXA gene (hexosaminidase A) | Higher in Ashkenazi Jewish and French-Canadian populations | 6 months | ~4-5 years (infantile form) | Cherry-red spot on retina, progressive neurological decline, prevented by carrier screening |
Creutzfeldt-Jakob Disease | Prion protein misfolding | ~1 per million per year | Average 60 years | ~1 year after diagnosis | Rapidly progressive dementia, mad cow disease is variant CJD, transmitted via surgical instruments historically |
Krabbe Disease | GALC gene (galactocerebrosidase) | ~1 in 100,000 | Typically before 6 months | ~2 years (infantile form) | Lysosomal storage disease, destroys myelin, bone marrow transplant only treatment if caught early |
Alkaptonuria (Black Urine Disease) | HGD gene deficiency | ~1 in 250,000 | Variable | Near normal | First human disease shown to follow Mendelian inheritance, urine turns black on exposure to air |
Epidermolysis Bullosa | Skin anchoring protein mutations | ~1 in 50,000 | Birth | Variable, some severe forms fatal in childhood | Butterfly children - skin as fragile as butterfly wings, blisters from minor friction |
Morgellons Disease | Disputed (possibly Borrelia related) | Unknown, considered rare/controversial | Adults | Normal | Patients report fibers emerging from skin, CDC study found no infectious cause, controversial diagnosis |
Kuru | Prion from cannibalism | Historically confined to Fore people of Papua New Guinea | Months to years after exposure | ~1-2 years after onset | Laughing death, eliminated after cannibalism ended, won Gajdusek the 1976 Nobel Prize |
Stone Man Syndrome (FOP) | ACVR1 mutation | ~1 in 2 million | Childhood | ~40 years | Second skeleton forms from soft tissue, historical patient Harry Eastlack's skeleton studied at Mutter Museum |
Methemoglobinemia | Inherited or drug-induced | Very rare (inherited form) | Congenital or acquired | Normal if managed | Blue skin color, famous Blue Fugates of Kentucky, treated with methylene blue |
Trimethylaminuria (Fish Odor Syndrome) | FMO3 gene deficiency | Rare, exact frequency unknown | Any age | Normal | Body smells like rotting fish due to inability to metabolize trimethylamine |
Water Allergy (Aquagenic Urticaria) | Unknown | ~100 known cases | Puberty | Normal | Hives on contact with any water, extremely rare, not a true IgE allergy |
Highlander Syndrome (Laron Syndrome) | GHR gene mutation | ~350 known cases | Infancy | Normal or extended | Growth hormone insensitivity causes dwarfism, patients nearly immune to cancer and diabetes |
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Frequently asked questions
How is Famous Rare Diseases organized?
The table starts in the source data's default order. You can sort and filter the loaded rows by the displayed fields.
How much data is available on this page?
This dataset contains 20 entries, and every row is available in the table and in the downloadable files.
Can I download the complete dataset?
Yes. CSV, JSON, and Excel downloads contain all 20 rows. Before republishing the data, review the source and any usage terms listed on this page; dtbse does not replace the original source's licensing terms.
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