List of Autosomal Dominant and Recessive Disorders

Autosomal dominant and recessive disorders play a major role in determining the transfer of disease from parents to children.

What is Autosomal Dominant?

If the disorder is Autosomal dominant only one infected gene from any one parent is enough to cause the disease in the child.

What is Autosomal Recessive ?

If the disorder is Autosomal recessive there should be transfer of both affected genes from both the parents to cause the disease. If gene from only one parent is transferred then the child becomes a carrier but does not get the disease.

 

List of Autosomal Dominant disorders:

Nervous:

• Huntingtons disease
• Neurofibromatosis
• Myotonic dystrophy
• Tuberous Sclerosis

Urinary:

• Polycysrtic kidney disease

Gastrointestinal:

• Familial polyposes coli

Hematopoietic:

• Hereditary Spherocytoses
• Von Willerbrand disease

Skletal:

• Marfan syndrome
• Ehlers Danlos Syndrome
• Osteogenesis Imperfecta
• Achondroplasia

Metabolic:

• Familial hypercholestrolemia
• Acute intermittent porphyria

List of Autosomal Recessive Disorders:

Metabolic:

• Cystic fibrosis
• Phenylketonurea
• Galactosemia
• Homocystinuria
• Lysosomal storage disease
• Alpha 1 Antitrypsin deficiency
• Wilsons disease
• Hemochromatoses
• Glycogen storage disease

Hematopoietic:

• Sickle cell Anemia
• Thalassemias

Endocrine:

• Congenital adrenal hyperplasia

Skeletal:

• Ehlers Danlos Syndrome
• Alkaptonurea

Nervous:

• Neurogenic muscular atrophies
• Friedrich ataxia
• Spinal muscular atrophy