Autosomal recessive diseasesAutosomal recessive diseases are genetic diseases that are passed to a child by both parents’ chromosomes. A disease is autosomal when errors occur on chromosomes 1 to 22, rather than on the 23rd sex-linked X chromosome, and it is recessive because it only occurs when a person has two copies of the bad gene. Autosomal recessive diseases include Tay-Sachs disease, cystic fibrosis, sickle cell disease, autosomal recessive polycystic kidney disease (ARPKD), and phenylketonuria (PKU).

Recessive diseases frequently occur in genes that produce an enzyme. A carrier with only one bad copy has low probabilities of developing a disease, because the second gene can effectively “pick up the slack” and preserve health. It is also possible for the carrier to develop a mild form of some diseases.

Autosomal recessive diseases are relatively rare, since to get the disease, one most inherit a bad gene from both parents, which means that each parent has to have a bad gene. Nevertheless, parents can carry a bad gene without having the disease, because the usually have only one gene themselves.


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Inheritance of an autosomal recessive disease

If both parents carry the gene, there’s a 25% chance in each pregnancy that the child will inherit the changed gene from each parent (two genes) and have the disease. There’s also a 50% chance that their child will receive only one changed gene and become a carrier. Another possibility, around 25% in each pregnancy, is that the child won’t receive the changed gene and be neither a carrier nor have the disease.

If only one parent carries the gene, there is a 50% chance in each pregnancy that the child will: receive the changed gene and be a carrier; not receive the changed gene and be neither a carrier nor have the disease; if neither parent carries the gene, the child will not have this type of disease.

If neither of the parents have a bad gene and their child still develops a genetic disease, this sort of case, known as a “sporadic genetic disease,” might have appeared from random genetic mutations in the DNA. However, a sporadic genetic mutation is not a probable cause for an autosomal recessive disease, as it would need two identical random mutations at the same time, one in each copy of the gene.

Autosomal recessive disease through generations and gender

If parents have one affected child, the odds of a second are usually 25%. The principle is the same as the inheritance: if the child has the disease,  both parents are most likely carriers, so the chances of having a second child with the disease are the same. Men and women have the same chances of getting autosomal recessive disease, because an autosomal error is not related to the sex chromosomes.

In general, the inheritance for autosomal recessive diseases tends to be “horizontal:” a generation, like many siblings for the same parents, is affected, but their parents and children are not. In this case, there is a probability that parents and the next-generation children will be the carriers.

List of autosomal recessive diseases

  • Abetalipoproteinemia
  • Acute fatty liver of pregnancy
  • Alkaptonuria
  • Bernard-Soulier syndrome
  • Bloom syndrome
  • Carpenter syndrome
  • Chediak-Higashi syndrome
  • Chondrodystrophy
  • CAH
  • Congenital hepatic fibrosis
  • Cystic Fibrosis
  • Cystinosis, Cystinuria
  • Dubin-Johnson syndrome
  • Endocardial Fibroelastosis
  • Familial Mediterranean Fever
  • Fanconi Anemia
  • Friedrech’s Ataxia
  • Gastroschisis
  • Gaucher’s disease
  • Glanzman’s Thromasthenia
  • Glycogen storage diseases
  • Hartnup Disease
  • Krabbe Disease
  • Leukocyte Adhesion Defect
  • Nieman Pick Disease
  • Rotor syndrome
  • Shwaman Diamond syndrome
  • Situs Inversus
  • Sickle cell Disease and Trait
  • Tay-Sachs
  • Thalasemia
  • Werner syndrome
  • Wilson’s Disease
  • Xeroderma pigmentosa

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