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Genetic Disorders Dataset – Inherited Diseases & Genetic Conditions Database
Genetic Disorders Dataset
The Genetic Disorders Dataset is a structured medical database containing a comprehensive list of inherited diseases and genetic conditions.
Genetic disorders are caused by abnormalities in genes or chromosomes and can be inherited or occur due to mutations. These conditions play a major role in genomics research, personalised medicine, and biotechnology.
This dataset provides organised information about genetic disorders, including key clinical and genetic details that are valuable for research, analysis, and application development.
Each record includes structured data such as disease descriptions, affected genes, symptoms, severity levels, and inheritance patterns.
The dataset has been cleaned and formatted for easy integration into spreadsheets, databases, and bioinformatics tools.
It is ideal for genomics researchers, healthcare developers, educators, and data scientists working in genetic and biomedical fields.
Dataset Contents
The dataset includes fields such as:
- Disease / Condition Name
- Description
- Affected Gene(s)
- Inheritance Pattern (Autosomal Dominant, Recessive, X-linked, etc.)
- Common Symptoms
- Severity Level
- Age of Onset
- Notes / Additional Information
Example Conditions Included
- Cystic Fibrosis
- Down Syndrome
- Sickle Cell Disease
- Huntington’s Disease
- Hemophilia
- Tay-Sachs Disease
- Marfan Syndrome
- Fragile X Syndrome
- Duchenne Muscular Dystrophy
- Phenylketonuria (PKU)
...and many more genetic disorders.
Data Preview
12 columns
25 rows shown
| No. | Disorder Name | Inheritance Pattern | Gene(s) Involved | Chromosome Location | Prevalence | Age of Onset | Key Symptoms | Affected Body Systems | Diagnostic Method | Treatment Availability | Prognosis | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Huntington Disease | Autosomal Dominant | HTT | 4p16.3 | 1 in 10,000–20,000 | Adulthood (30–50 years) | Chorea, cognitive decline, psychiatric disturbances, motor dysfunction, personality changes | Nervous System | Genetic testing (CAG repeat expansion >36) | Symptomatic treatment (tetrabenazine for chorea, antidepressants) | Fatal, typically 15–20 years after onset |
| 2 | 2 | Marfan Syndrome | Autosomal Dominant | FBN1 | 15q21.1 | 1 in 5,000–10,000 | Childhood to Adolescence | Tall stature, long limbs, aortic root dilation, lens subluxation, joint hypermobility | Musculoskeletal, Cardiovascular, Ocular | Clinical diagnosis (Ghent nosology), genetic testing | Beta-blockers/ARBs, surgical aortic repair, lens surgery | Near-normal lifespan with treatment |
| 3 | 3 | Neurofibromatosis Type 1 | Autosomal Dominant | NF1 | 17q11.2 | 1 in 3,000 | Childhood | Cafe-au-lait spots, neurofibromas, Lisch nodules, optic gliomas, learning disabilities | Nervous System, Skin | Clinical diagnosis (NIH criteria), genetic testing | Symptomatic treatment, surgical tumor removal, MEK inhibitors (selumetinib) | Variable, reduced lifespan in some |
| 4 | 4 | Neurofibromatosis Type 2 | Autosomal Dominant | NF2 (merlin) | 22q12.2 | 1 in 25,000–33,000 | Adolescence to Adulthood | Bilateral vestibular schwannomas, meningiomas, hearing loss, tinnitus, balance problems | Nervous System, Auditory | MRI (gadolinium-enhanced), audiometry, genetic testing | Surgical tumor removal, bevacizumab, radiation therapy | Reduced lifespan, depends on tumor burden |
| 5 | 5 | Autosomal Dominant Polycystic Kidney Disease | Autosomal Dominant | PKD1, PKD2 | 16p13.3, 4q22.1 | 1 in 400–1,000 | Adulthood (30–50 years) | Bilateral renal cysts, hypertension, abdominal pain, hematuria, renal failure | Renal, Cardiovascular | Ultrasound imaging, genetic testing | Tolvaptan, blood pressure management, dialysis, kidney transplant | Variable, many progress to end-stage renal disease |
| 6 | 6 | Achondroplasia | Autosomal Dominant | FGFR3 | 4p16.3 | 1 in 15,000–40,000 | Birth | Short limbs, macrocephaly, frontal bossing, midface hypoplasia, spinal stenosis | Musculoskeletal | Clinical/radiographic diagnosis, genetic testing | Vosoritide (C-type natriuretic peptide analog), limb lengthening surgery | Normal lifespan with management |
| 7 | 7 | Osteogenesis Imperfecta (Type I) | Autosomal Dominant | COL1A1, COL1A2 | 17q21.33, 7q21.3 | 1 in 15,000–20,000 | Birth to Childhood | Bone fragility, fractures, blue sclerae, hearing loss, dental abnormalities | Musculoskeletal, Auditory | Clinical diagnosis, DEXA scan, genetic testing | Bisphosphonates, physical therapy, surgical rodding | Near-normal lifespan (Type I) |
| 8 | 8 | Familial Hypercholesterolemia | Autosomal Dominant | LDLR, APOB, PCSK9 | 19p13.2, 2p24.1, 1p32.3 | 1 in 200–250 (heterozygous) | Childhood to Adulthood | Elevated LDL cholesterol, tendon xanthomas, corneal arcus, premature atherosclerosis | Cardiovascular | Lipid panel, genetic testing, clinical criteria (Dutch/Simon Broome) | Statins, PCSK9 inhibitors, ezetimibe, LDL apheresis | Reduced without treatment; normal with early treatment |
| 9 | 9 | Retinoblastoma (Hereditary) | Autosomal Dominant | RB1 | 13q14.2 | 1 in 15,000–20,000 | Infancy to Early Childhood | Leukocoria (white pupil), strabismus, eye pain, vision loss, retinal tumors | Ocular | Fundoscopy, retinal imaging, genetic testing | Chemotherapy, laser therapy, cryotherapy, enucleation | Good if detected early, >95% survival |
| 10 | 10 | Tuberous Sclerosis Complex | Autosomal Dominant | TSC1, TSC2 | 9q34.13, 16p13.3 | 1 in 6,000 | Infancy to Childhood | Cortical tubers, facial angiofibromas, seizures, intellectual disability, renal angiomyolipomas | Nervous System, Skin, Renal | Clinical criteria, MRI brain, genetic testing | mTOR inhibitors (everolimus), anti-epileptics, surgical tumor removal | Variable, depends on organ involvement |
| 11 | 11 | Von Hippel-Lindau Disease | Autosomal Dominant | VHL | 3p25.3 | 1 in 36,000 | Adolescence to Adulthood | Hemangioblastomas (CNS/retina), clear cell renal carcinoma, pheochromocytoma, pancreatic cysts | Nervous System, Renal, Endocrine | MRI surveillance, genetic testing | Surgical tumor removal, belzutifan (HIF-2alpha inhibitor) | Variable, depends on tumor burden |
| 12 | 12 | Li-Fraumeni Syndrome | Autosomal Dominant | TP53 | 17p13.1 | 1 in 5,000–20,000 | Childhood to Adulthood | Multiple primary cancers (sarcomas, breast, brain tumors, leukemia, adrenocortical carcinoma) | Multiple Systems | Genetic testing, family history analysis | Cancer surveillance protocols (Toronto protocol), prophylactic surgery | Reduced lifespan due to multiple cancers |
| 13 | 13 | Hereditary Breast and Ovarian Cancer | Autosomal Dominant | BRCA1, BRCA2 | 17q21.31, 13q13.1 | 1 in 400 (BRCA carriers) | Adulthood | Breast cancer, ovarian cancer, prostate cancer, pancreatic cancer | Reproductive, Multiple Systems | Genetic testing, family history assessment | Prophylactic mastectomy/oophorectomy, PARP inhibitors, surveillance | Variable, depends on cancer type and stage |
| 14 | 14 | Ehlers-Danlos Syndrome (Vascular Type) | Autosomal Dominant | COL3A1 | 2q32.2 | 1 in 50,000–200,000 | Childhood to Adulthood | Arterial/organ rupture, thin translucent skin, easy bruising, characteristic facial features | Cardiovascular, Skin, Musculoskeletal | Clinical diagnosis, genetic testing | Celiprolol, surgical management, avoidance of trauma | Reduced lifespan, median survival ~50 years |
| 15 | 15 | Hereditary Spherocytosis | Autosomal Dominant | ANK1, SLC4A1, SPTB | 8p11.21, 17q21.31, 14q23.3 | 1 in 2,000–5,000 | Childhood | Hemolytic anemia, jaundice, splenomegaly, gallstones, fatigue | Hematologic | Osmotic fragility test, EMA binding test, genetic testing | Folic acid, splenectomy, blood transfusions | Normal lifespan with treatment |
| 16 | 16 | Hereditary Hemorrhagic Telangiectasia | Autosomal Dominant | ENG, ACVRL1 | 9q34.11, 12q13.13 | 1 in 5,000–8,000 | Childhood to Adulthood | Recurrent nosebleeds, telangiectasias, AVMs (lung, brain, liver), iron deficiency anemia | Cardiovascular, Respiratory, Hepatic | Clinical criteria (Curacao), genetic testing | Iron supplementation, laser treatment, embolization of AVMs, bevacizumab | Near-normal lifespan with management |
| 17 | 17 | Noonan Syndrome | Autosomal Dominant | PTPN11, SOS1, RAF1, KRAS | 12q24.13, 2p22.1, 3p25.2, 12p12.1 | 1 in 1,000–2,500 | Birth | Short stature, congenital heart defects, characteristic facies, webbed neck, bleeding disorders | Cardiovascular, Musculoskeletal | Clinical diagnosis, genetic testing | Growth hormone therapy, cardiac surgery if needed | Generally normal lifespan |
| 18 | 18 | Familial Adenomatous Polyposis | Autosomal Dominant | APC | 5q22.2 | 1 in 8,000–14,000 | Adolescence | Hundreds to thousands of colorectal polyps, colorectal cancer risk, desmoid tumors, osteomas | Gastrointestinal | Colonoscopy, genetic testing | Prophylactic colectomy, COX-2 inhibitors, cancer surveillance | Normal lifespan with prophylactic surgery |
| 19 | 19 | Lynch Syndrome (HNPCC) | Autosomal Dominant | MLH1, MSH2, MSH6, PMS2 | 3p22.2, 2p21, 2p16.3, 7p22.1 | 1 in 279–440 | Adulthood | Colorectal cancer, endometrial cancer, ovarian cancer, gastric cancer, urinary tract cancer | Gastrointestinal, Reproductive | Microsatellite instability testing, IHC, genetic testing | Cancer surveillance, prophylactic surgery, immunotherapy (pembrolizumab) | Variable, depends on cancer detection |
| 20 | 20 | Myotonic Dystrophy Type 1 | Autosomal Dominant | DMPK (CTG repeat) | 19q13.32 | 1 in 8,000 | Variable (congenital to adulthood) | Myotonia, progressive muscle weakness, cataracts, cardiac conduction defects, insulin resistance | Musculoskeletal, Cardiovascular, Ocular | Genetic testing (CTG repeat expansion >50), EMG | Mexiletine for myotonia, cardiac monitoring, cataract surgery | Reduced lifespan, respiratory/cardiac complications |
| 21 | 21 | Myotonic Dystrophy Type 2 | Autosomal Dominant | CNBP/ZNF9 (CCTG repeat) | 3q21.3 | 1 in 10,000 (estimated) | Adulthood (20–60 years) | Proximal muscle weakness, myotonia, muscle pain, cataracts, cardiac conduction defects | Musculoskeletal, Cardiovascular, Ocular | Genetic testing (CCTG repeat expansion), EMG | Symptomatic treatment, cardiac monitoring, pain management | Near-normal lifespan |
| 22 | 22 | Charcot-Marie-Tooth Disease Type 1A | Autosomal Dominant | PMP22 | 17p12 | 1 in 2,500 | Childhood to Adolescence | Distal muscle weakness, foot drop, pes cavus, sensory loss, areflexia | Nervous System, Musculoskeletal | Nerve conduction studies, genetic testing | Physical therapy, orthotics, pain management | Normal lifespan, progressive disability |
| 23 | 23 | Waardenburg Syndrome | Autosomal Dominant | PAX3, MITF, SOX10 | 2q36.1, 3p13, 22q13.1 | 1 in 42,000 | Birth | Sensorineural hearing loss, heterochromia iridis, white forelock, dystopia canthorum | Auditory, Skin, Ocular | Audiometry, clinical examination, genetic testing | Hearing aids, cochlear implants | Normal lifespan |
| 24 | 24 | Treacher Collins Syndrome | Autosomal Dominant | TCOF1 | 5q32-q33.1 | 1 in 50,000 | Birth | Mandibulofacial dysostosis, downslanting palpebral fissures, micrognathia, conductive hearing loss | Craniofacial, Auditory | Clinical examination, CT scan, genetic testing | Surgical reconstruction, hearing aids, speech therapy | Normal lifespan with management |
| 25 | 25 | Stickler Syndrome | Autosomal Dominant | COL2A1, COL11A1 | 12q13.11, 1p21.1 | 1 in 7,500–9,000 | Birth to Childhood | Myopia, retinal detachment, cleft palate, joint hypermobility, sensorineural hearing loss | Ocular, Musculoskeletal, Auditory | Clinical examination, genetic testing | Prophylactic retinal treatment, joint protection, hearing aids | Normal lifespan |
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