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Rare Diseases Dataset – Orphan Diseases & Rare Conditions Database
Rare Diseases Dataset
The Rare Diseases Dataset is a structured medical database containing a comprehensive list of rare and orphan diseases.
Rare diseases are conditions that affect a small percentage of the population, yet collectively impact millions of people worldwide. These conditions are often genetic, complex, and under-researched, making structured data highly valuable for research and analysis.
This dataset provides organised information about rare diseases, helping researchers, healthcare developers, and data scientists better understand and analyse these conditions.
Each record includes key clinical details such as disease descriptions, affected systems, symptoms, severity levels, and general management approaches.
The dataset has been cleaned and structured for easy integration into spreadsheets, databases, and analytical tools.
It is ideal for medical researchers, healthcare developers, educators, and data scientists working in rare disease research and healthcare innovation.
Dataset Contents
The dataset includes fields such as:
- Disease / Condition Name
- Description
- Affected System
- Common Symptoms
- Severity Level
- Disease Category
- Genetic or Non-Genetic Classification
- Treatment / Management
Example Conditions Included
- Huntington’s Disease
- Cystic Fibrosis
- Amyotrophic Lateral Sclerosis (ALS)
- Gaucher Disease
- Fabry Disease
- Marfan Syndrome
- Prader-Willi Syndrome
- Ehlers-Danlos Syndrome
- Tay-Sachs Disease
- Wilson’s Disease
...and many more rare conditions.
Data Preview
17 columns
25 rows shown
| ID | Disease Name | Category | Prevalence | Inheritance Pattern | Affected Gene(s) | Chromosome Location | Key Symptoms | Typical Age of Onset | Diagnosis Methods | Available Treatments | Orphan Drug Designation | ICD-10 Code | OMIM Number | Affected System(s) | Disease Severity | Life Expectancy Impact | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Gaucher Disease (Type 1) | Metabolic/Lysosomal Storage | 1/40,000-1/60,000 (1/800 Ashkenazi Jews) | Autosomal Recessive | GBA1 | 1q22 | Hepatosplenomegaly, anemia, thrombocytopenia, bone pain, fatigue | Childhood to adulthood | Beta-glucocerebrosidase enzyme assay, genetic testing, bone marrow biopsy | ERT (imiglucerase, velaglucerase alfa, taliglucerase alfa), SRT (eliglustat, miglustat) | Yes | E75.22 | 230800 | Hematologic, Skeletal, Hepatic | Moderate | Near-normal with treatment |
| 2 | 2 | Fabry Disease | Metabolic/Lysosomal Storage | 1/40,000-1/117,000 | X-linked Recessive | GLA | Xq22.1 | Acroparesthesias, angiokeratomas, corneal dystrophy, renal failure, cardiomyopathy, stroke | Childhood (males); later in females | Alpha-galactosidase A enzyme assay, genetic testing, kidney biopsy | ERT (agalsidase beta, agalsidase alfa), chaperone therapy (migalastat) | Yes | E75.21 | 301500 | Renal, Cardiac, Neurological, Dermatologic | Moderate-Severe | Reduced without treatment |
| 3 | 3 | Pompe Disease | Metabolic/Lysosomal Storage | 1/40,000 (combined forms) | Autosomal Recessive | GAA | 17q25.3 | Progressive muscle weakness, respiratory insufficiency, cardiomegaly (infantile), difficulty walking | Infantile to adult onset | Acid alpha-glucosidase enzyme assay, genetic testing, muscle biopsy, newborn screening | ERT (alglucosidase alfa, avalglucosidase alfa), respiratory support, physical therapy | Yes | E74.02 | 232300 | Muscular, Respiratory, Cardiac | Severe (infantile); Moderate (late-onset) | Fatal in infancy without treatment; variable in late-onset |
| 4 | 4 | Niemann-Pick Disease (Type A) | Metabolic/Lysosomal Storage | 1/250,000 (1/40,000 Ashkenazi Jews) | Autosomal Recessive | SMPD1 | 11p15.4 | Hepatosplenomegaly, neurodegeneration, cherry-red spot, failure to thrive, lung disease | Infancy | Acid sphingomyelinase activity assay, genetic testing, bone marrow biopsy | Supportive/palliative care; no effective treatment for Type A; olipudase alfa for Type B | Yes | E75.240 | 257200 | Neurological, Hepatic, Pulmonary | Severe | Fatal by age 3 (Type A) |
| 5 | 5 | Niemann-Pick Disease (Type C) | Metabolic/Lysosomal Storage | 1/120,000-1/150,000 | Autosomal Recessive | NPC1, NPC2 | 18q11.2, 14q24.3 | Vertical supranuclear gaze palsy, ataxia, dystonia, dementia, hepatosplenomegaly, seizures | Variable (neonatal to adult) | Filipin staining, oxysterol levels, genetic testing | Miglustat (substrate reduction), supportive care, seizure management | Yes | E75.242 | 257220 | Neurological, Hepatic | Severe | Significantly reduced |
| 6 | 6 | Tay-Sachs Disease | Neurological/Lysosomal Storage | 1/320,000 (1/3,600 Ashkenazi Jews) | Autosomal Recessive | HEXA | 15q23 | Developmental regression, cherry-red spot, seizures, blindness, paralysis, macrocephaly | 3-6 months (infantile form) | Hexosaminidase A enzyme assay, genetic testing, carrier screening | No cure; supportive/palliative care, seizure management | No | E75.02 | 272800 | Neurological | Severe | Fatal by age 4-5 (infantile) |
| 7 | 7 | Krabbe Disease | Neurological/Lysosomal Storage | 1/100,000 | Autosomal Recessive | GALC | 14q31.3 | Irritability, spasticity, developmental regression, peripheral neuropathy, blindness, deafness | Infancy (most common) | Galactocerebrosidase enzyme assay, genetic testing, newborn screening, MRI | HSCT (pre-symptomatic), supportive care | Yes | E75.23 | 245200 | Neurological | Severe | Fatal by age 2 (infantile) |
| 8 | 8 | Metachromatic Leukodystrophy | Neurological/Lysosomal Storage | 1/40,000-1/160,000 | Autosomal Recessive | ARSA | 22q13.33 | Motor regression, spasticity, peripheral neuropathy, cognitive decline, seizures | Late infantile (1-2 yrs), juvenile, or adult | Arylsulfatase A enzyme assay, urine sulfatides, genetic testing, MRI | Atidarsagene autotemcel (gene therapy), HSCT (pre-symptomatic), supportive care | Yes | E75.25 | 250100 | Neurological | Severe | Significantly reduced |
| 9 | 9 | Mucopolysaccharidosis Type I (Hurler) | Metabolic/Lysosomal Storage | 1/100,000 | Autosomal Recessive | IDUA | 4p16.3 | Coarse facies, corneal clouding, hepatosplenomegaly, skeletal dysplasia, intellectual disability, cardiac valve disease | 6-24 months | Urine GAGs, alpha-L-iduronidase enzyme assay, genetic testing, newborn screening | ERT (laronidase), HSCT (severe form), supportive care | Yes | E76.01 | 607014 | Skeletal, Neurological, Cardiac, Hepatic | Severe | Fatal in childhood without treatment |
| 10 | 10 | Mucopolysaccharidosis Type II (Hunter) | Metabolic/Lysosomal Storage | 1/100,000-1/170,000 males | X-linked Recessive | IDS | Xq28 | Coarse facies, hepatosplenomegaly, skeletal dysplasia, hearing loss, cardiac disease, intellectual disability | 2-4 years | Urine GAGs, iduronate-2-sulfatase enzyme assay, genetic testing | ERT (idursulfase), intrathecal ERT (investigational), HSCT under investigation | Yes | E76.1 | 309900 | Skeletal, Neurological, Cardiac, Hepatic | Moderate-Severe | Reduced (10-20 yrs severe; longer attenuated) |
| 11 | 11 | Mucopolysaccharidosis Type III (Sanfilippo) | Metabolic/Lysosomal Storage | 1/70,000 | Autosomal Recessive | SGSH, NAGLU, HGSNAT, GNS | 17q25.3, 17q21.2, 8p11.21, 12q14.3 | Severe behavioral disturbance, sleep disorders, progressive dementia, mild somatic features | 2-6 years | Urine GAGs, specific enzyme assays, genetic testing | Supportive care, behavioral management; gene therapy trials underway | Yes | E76.22 | 252900 | Neurological | Severe | Death typically in teens-20s |
| 12 | 12 | Mucopolysaccharidosis Type IV (Morquio A) | Metabolic/Lysosomal Storage | 1/200,000-1/300,000 | Autosomal Recessive | GALNS | 16q24.3 | Severe skeletal dysplasia, short trunk dwarfism, odontoid hypoplasia, corneal clouding, normal intelligence | 1-3 years | Urine keratan sulfate, GALNS enzyme assay, genetic testing, skeletal survey | ERT (elosulfase alfa), cervical stabilization surgery, supportive care | Yes | E76.210 | 253000 | Skeletal, Ophthalmologic | Moderate-Severe | Reduced (20s-40s) |
| 13 | 13 | Phenylketonuria (PKU) | Metabolic/Amino Acid | 1/10,000-1/15,000 | Autosomal Recessive | PAH | 12q23.2 | Intellectual disability (untreated), seizures, behavioral problems, musty odor, light pigmentation | Neonatal (detected by screening) | Newborn screening (blood phenylalanine), genetic testing | Low-phenylalanine diet, sapropterin (BH4/Kuvan), pegvaliase (Palynziq) | Yes | E70.0 | 261600 | Neurological | Mild with treatment | Normal with treatment |
| 14 | 14 | Maple Syrup Urine Disease | Metabolic/Amino Acid | 1/185,000 (higher in Mennonites) | Autosomal Recessive | BCKDHA, BCKDHB, DBT | 19q13.2, 6q14.1, 1p21.2 | Sweet-smelling urine, poor feeding, vomiting, lethargy, seizures, metabolic crisis | Neonatal | Newborn screening, plasma amino acids, genetic testing | Dietary restriction of branched-chain amino acids, thiamine (responsive forms), liver transplant | Yes | E71.0 | 248600 | Neurological, Metabolic | Severe | Fatal if untreated; good with early treatment |
| 15 | 15 | Homocystinuria | Metabolic/Amino Acid | 1/58,000-1/1,000,000 | Autosomal Recessive | CBS | 21q22.3 | Lens dislocation (downward), Marfanoid habitus, intellectual disability, thromboembolism, osteoporosis | Childhood | Plasma homocysteine/methionine, urine homocystine, genetic testing | Pyridoxine (B6-responsive forms), low-methionine diet, betaine, folate, B12 | No | E72.11 | 236200 | Ophthalmologic, Skeletal, Neurological, Vascular | Moderate | Reduced without treatment |
| 16 | 16 | Galactosemia (Classic) | Metabolic | 1/30,000-1/60,000 | Autosomal Recessive | GALT | 9p13.3 | Jaundice, hepatomegaly, vomiting, poor feeding, E. coli sepsis, cataracts, intellectual disability | Neonatal | Newborn screening, GALT enzyme assay, galactose-1-phosphate levels, genetic testing | Galactose-restricted diet (lifelong), calcium/vitamin D supplementation | No | E74.21 | 230400 | Hepatic, Neurological, Ophthalmologic | Moderate | Good with early dietary treatment |
| 17 | 17 | Biotinidase Deficiency | Metabolic | 1/61,000 | Autosomal Recessive | BTD | 3p25.1 | Seizures, hypotonia, skin rash, alopecia, hearing loss, optic atrophy, developmental delay | Infancy to early childhood | Newborn screening (biotinidase activity), genetic testing | Oral biotin supplementation (5-20 mg/day); complete prevention if treated early | No | E53.8 | 253260 | Neurological, Dermatologic | Moderate untreated; Mild treated | Normal with treatment |
| 18 | 18 | Wilson Disease | Metabolic/Hepatic | 1/30,000 | Autosomal Recessive | ATP7B | 13q14.3 | Liver disease (hepatitis, cirrhosis), Kayser-Fleischer rings, neuropsychiatric symptoms, tremor, dysarthria | 5-35 years | Serum ceruloplasmin, 24-hr urine copper, liver biopsy, slit-lamp exam, genetic testing | D-penicillamine, trientine (chelation), zinc (blocks absorption), liver transplant | No | E83.01 | 277900 | Hepatic, Neurological, Psychiatric | Moderate-Severe | Good with treatment |
| 19 | 19 | Hemochromatosis (Type 1) | Metabolic/Hepatic | 1/200-1/500 homozygous (European descent); clinical disease much rarer | Autosomal Recessive | HFE | 6p22.2 | Iron overload, cirrhosis, diabetes, cardiomyopathy, arthritis, hypogonadism, skin bronzing | 40-60 years (symptoms) | Serum ferritin, transferrin saturation, genetic testing (C282Y), liver biopsy/MRI | Therapeutic phlebotomy, chelation therapy (if phlebotomy not tolerated) | No | E83.110 | 235200 | Hepatic, Cardiac, Endocrine | Moderate | Normal with early treatment |
| 20 | 20 | Alpha-1 Antitrypsin Deficiency | Metabolic/Pulmonary | 1/1,500-1/3,500 (European descent) | Autosomal Codominant | SERPINA1 | 14q32.13 | Emphysema, COPD, liver disease (cirrhosis), panniculitis | 30+ years (pulmonary); variable (hepatic) | Serum AAT level, AAT phenotyping/genotyping, pulmonary function tests, liver function tests | Augmentation therapy (IV AAT: Prolastin, Zemaira, Glassia, Aralast), standard COPD care, liver transplant | Yes | E88.01 | 613490 | Pulmonary, Hepatic | Moderate-Severe | Reduced without treatment |
| 21 | 21 | Acute Intermittent Porphyria | Metabolic/Hepatic | 1/75,000 (symptomatic) | Autosomal Dominant (reduced penetrance) | HMBS | 11q23.3 | Acute abdominal pain, nausea/vomiting, tachycardia, hypertension, neuropsychiatric symptoms, dark urine | 20-40 years | Urine PBG and ALA, genetic testing, enzyme assay | Hemin (IV), glucose loading, givosiran (RNAi therapy), avoidance of triggers | Yes | E80.21 | 176000 | Hepatic, Neurological | Moderate | Normal with management |
| 22 | 22 | Tyrosinemia Type 1 | Metabolic/Amino Acid | 1/100,000 (1/16,000 in Quebec) | Autosomal Recessive | FAH | 15q25.1 | Liver failure, renal tubular dysfunction, rickets, porphyria-like crises, hepatocellular carcinoma risk | Infancy | Newborn screening (succinylacetone), plasma amino acids, urine succinylacetone, genetic testing | Nitisinone (NTBC), low-tyrosine/phenylalanine diet, liver transplant (refractory cases) | Yes | E70.21 | 276700 | Hepatic, Renal | Severe without treatment | Good with nitisinone |
| 23 | 23 | Alkaptonuria | Metabolic | 1/250,000-1/1,000,000 | Autosomal Recessive | HGD | 3q13.33 | Dark urine (ochronosis), pigmentation of cartilage/connective tissue, arthritis, cardiac valve disease | Childhood (dark urine); adulthood (arthritis) | Urine homogentisic acid, genetic testing, clinical features | Nitisinone (reduces HGA), physical therapy, joint replacement surgery | Yes | E70.29 | 203500 | Musculoskeletal, Cardiac | Moderate | Near-normal |
| 24 | 24 | Cystinosis (Nephropathic) | Renal/Metabolic | 1/100,000-1/200,000 | Autosomal Recessive | CTNS | 17p13.2 | Renal Fanconi syndrome, growth failure, rickets, photophobia, corneal crystals, progressive renal failure | 6-12 months | WBC cystine levels, slit-lamp exam, genetic testing, renal function tests | Cysteamine (oral and ophthalmic), electrolyte/vitamin D replacement, kidney transplant, growth hormone | Yes | E72.04 | 219800 | Renal, Ophthalmologic, Endocrine | Severe | Improved with cysteamine |
| 25 | 25 | Cystinuria | Metabolic/Renal | 1/7,000 | Autosomal Recessive | SLC3A1, SLC7A9 | 2p21, 19q13.11 | Recurrent kidney stones (cystine), renal colic, urinary tract infections | Childhood to young adulthood | Urine amino acid analysis, stone analysis, genetic testing, cyanide-nitroprusside test | High fluid intake, urine alkalinization, tiopronin/D-penicillamine, surgical stone removal | No | E72.01 | 220100 | Renal | Moderate | Normal with management |
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