Dominant and recessive

Autosomal Dominant diseases

Frequently asked:

  1. Hereditary Non Polyposis Colon Cancer.
  2. Hereditary Spherocytosis
  3. Hypertrophic cardiomyopathy
  4. Hereditary Hemorrhagic Telengectasia


  1. Familial breast and Ovarian cancer
  2. Familial Adenomatous Polyposis
  3. Familial Hypercholesterolemia
  4. Familial Polyposis coli
  5. Familial melanoma
  6. Familial hypocalciuric hypercalcemia
  7. Familial parkinson’s disease


  1. Von Willebrand’s Disease
  2. Factor V Leiden

Connective tissue:

  1. Marfans syndrome
  2. Neurofibromatosis type I and II
  3. Achondroplasia
  4. Osteogenesis Imperfecta
  1. Wilm’s tumour
  2. Long QT syndrome
  3. Basal cell nevus syndrome
  4. Retinoblastoma
  5. Huntington’s diseaese
  6. Maturity onset Diabetes Insipidus
  7. Adult PCKD
  8. Maturity onset diabetes of young
  9. Primary pulmonary hypertension

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