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. These are also used to determine any Hereditary gene which can be passed on to children leading to passing on the disorder from parent to child. There are two types of disorders based on the type of Gene. Dominant – Only one copy of the gene is enough to transfer the disorder. In Recessive – Two copies of the gene are required to transfer the disorder from parent to child.

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:

• Polycystic kidney disease

Gastrointestinal:

• Familial polyposes coli

Hematopoietic:

• Hereditary Spherocytoses
• Von Willerbrand disease

Skeletal:

• 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