genetic disease

Introduction

Also see genetic counseling.

Epidemiology

• risk of developing a genetic disease declines with age

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
  • close biologic relationship between parents
  • presence of associated conditions
    • breast cancer
    • ovarian cancer
  • disease in the absence of other known risk factors
  • 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
• patients with possible inherited disease should be referred for genetic testing only in the context of genetic counseling

More general terms

• disease

More specific terms

• ablepharon-macrostomia syndrome
• channelopathy
• congenital diarrhea
• epigenetic disease
• 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 cardiovascular system
• 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 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
• hyperornithinemia
• idiopathic infantile arterial calcification; generalized arterial calcification of infancy
• inborn error of metabolism
• ossification of the posterior longitudinal ligament
• pharmacogenetic disease
• posterior column ataxia with retinitis pigmentosa (PCARP)
• proliferative vasculopathy & hydranencephaly-hydrocephaly syndrome
• tetra-amelia
• transient familial neonatal hyperbilirubinemia
• trinucleotide repeat expansion disease
• X-linked disease

Additional terms

• genetic counseling
• genetic screening