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Genetic Disorders
A reference to genetic disorders, covering inheritance patterns, associated genes, chromosome locations, symptoms, diagnosis, treatment availability and prognosis.
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A reference to genetic disorders, covering inheritance patterns, associated genes, chromosome locations, symptoms, diagnosis, treatment availability and prognosis.
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148records
12columns
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Columns
| # | TextNo. | TextDisorder Name | TextInheritance Pattern | TextGene(s) Involved | LocationChromosome Location | TextPrevalence | TextAge of Onset | TextKey Symptoms | TextAffected Body Systems | TextDiagnostic Method | TextTreatment Availability | TextPrognosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 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 | HTT CAG repeat testing: 36–39 repeats have reduced penetrance; >=40 repeats have full penetrance within a typical lifespan; interpret with clinical findings and genetic counseling | Symptomatic treatment (tetrabenazine for chorea, antidepressants) | Fatal, typically 15–20 years after onset |
| 02 | 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 |
| 03 | 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 |
| 04 | 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 |
| 05 | 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 |
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