autosomal recessive

Examples of autosomal recessive in the following topics:

• Polycystic Kidney Disease

  • There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD), and the less-common autosomal recessive polycystic kidney disease (ARPKD).
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most common of all the hereditary cystic kidney diseases, with an incidence of 1:1,000 to 2:1,000 live births.
  • Studies show that the incidence of autosomal recessive polycystic kidney disease (ARPKD) is 1:20,000 live births, and is typically identified in the first few weeks after birth.

• Phenylketonuria (PKU)

  • Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder due to a mutation in the phenylalanine hydroxylasegene gene.
  • Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
  • Because PKU is an autosomal recessive genetic disorder, both parents must have at least one mutated allele of the PAH gene.

• Congenital Adrenal Hyperplasia

  • Congenital adrenal hyperplasia refers to an autosomal recessive disease caused by mutated genes for enzymes that produce cortisol from cholesterol.
  • Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).
  • Since CAH is a recessive gene, both the mother and father must be recessive carriers of CAH for a child to have CAH .
  • Due to advances in modern medicine, those couples with the recessive CAH genes have an option to prevent CAH in their offspring through preimplantation genetic diagnosis (PGD).
  • Since CAH is a recessive gene, both the mother and father must be recessive carriers of CAH for a child to have CAH (the child in red).

• Cystic Fibrosis

  • Cystic fibrosis (CF) is an autosomal recessive disorder leading to respiratory congestion, multiple organ failure, and metabolic changes.
  • Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs and also the pancreas, liver, and intestine.
  • Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder's recessive nature.
  • CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.

• Sickle-Cell Disease

  • Sickle-cell disease is an autosomal recessive genetic blood disorder in which red blood cells assume a rigid sickle shape.
  • Sickle-cell disease (SCD), or sickle-cell anemia, is an autosomal recessive genetic blood disorder with overdominance characterized by red blood cells that assume an abnormal, rigid, and sickle shape.

• Glucosuria

  • When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive trait.

• Galactosemia and Glycogen Storage Disease

  • Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.

• Iron Overload and Tissue Damage

  • Hereditary hemochromatosis is an autosomal recessive disease with estimated prevalence in the population of 1 in 500 among patients with European ancestry, with lower incidence in other ethnic groups.

• Ataxia

  • Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, as well as autosomal recessive disorders such as Friedreich's ataxia.

• Congenital Defects

  • Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder).