Genetic Disease

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Introduction 3 Genetics 4 Laboratory 5 More General Terms 6 Additional Terms 7 References

More Specific Terms

• genetic disease of blood vessels
• genetic disease of bone/skeletal system
• genetic disease of connective tissue
• genetic disease of muscle (inherited myopathy)
• genetic disease of the auditory system
• genetic disease of the blood/bone marrow
• genetic disease of the endocrine system
• genetic disease of the exocrine function
• genetic disease of the eye
• genetic disease of the gastrointestinal tract
• genetic disease of the gums; hereditary periodontal disease
• genetic disease of the hair
• genetic disease of the heart
• genetic disease of the immune system
• genetic disease of the kidney
• genetic disease of the liver
• genetic disease of the lung
• genetic disease of the lymphatic system
• genetic disease of the nervous system
• genetic disease of the skin (genodermatosis)
• genetic disease of the teeth
• genetic disease of the urogenital system
• genetic syndrome (multisystem disorder)
• glutathione reductase deficiency
• idiopathic infantile arterial calcification; generalized arterial calcification of infancy
• inborn error of metabolism
• neurodegeneration with brain iron accumulation
• ossification of the posterior longitudinal ligament
• pharmacogenetic disease
• trinucleotide repeat expansion disease
• X-linked disease

Introduction

• Also see genetic counseling.

Genetics

• autosomal dominant

• multiple generations of affected individuals
• both male & female affected

• autosomal recessive

• siblings more likely to be affected than parents

• X-linked recessive

• only males affected
• inheritance through mothers

• X-linked dominant

• half of male & female children of affected mothers will be affected
• no affected male children of affected fathers
• all daughters of affected fathers will be affected
• some X-linked dominant conditions are fatal to males, so only females will survive

• other factors

• multiple affected individuals in multiple generations
• occurrence of disease at early age
• close degree of relatedness of affected relative
• presence of associated conditions

• breast cancer
• ovarian cancer

• unusual presentation

• bilateral breast cancer
• breast cancer in males

Laboratory

• genetic testing

• prenatal genetic testing
• preconception genetic testing
• neonatal screening

• avoid genetic testing in other circumstances in unselected patient population

• low predictive value of positive test
• genetic labeling

More General Terms

• disease

Additional Terms

• genetic counseling

References

- Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009 genetic disease