Autosomal recessive


Also found in: Acronyms.

autosomal recessive

adjective Referring to a mode of inheritance of a trait or disorder which is passed from one generation to the next in the face of homozygosity.

In autosomal recessive inheritance, both genes of interest (i.e., one from each parent) on a paired chromosome have the same defect; if both parents have the recessive gene of interest, the likelihood of expression in progeny is 1:4. Men and women are affected equally.
 
Examples
Cystic fibrosis, most forms of mucopolysaccharidosis (except Hunter syndrome), sickle cell anaemia, Tay-Sachs disease, thalassemia.

autosomal recessive

Genetics Referring to a mode of inheritance, in which the phenotypic expression of a gene of interest requires its presence on both paired chromosomes–ie, a homozygous state; if both parents have the recessive gene of interest, the likelihood of expression in progeny is 1:4; ♂ and ♀ are affected equally. Cf Autosomal dominant, X-linked recessive.

autosomal recessive

Pert. to or characteristic of an autosomal recessive gene. See: autosomal recessive gene

Autosomal recessive

A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. When both parents have one abnormal copy of the same gene, they have a 25% chance with each pregnancy that their offspring will have the disorder.
Mentioned in: Hemoglobinopathies, Muscular Dystrophy, Polyhydramnios and Oligohydramnios, Porphyrias, Prolonged QT Syndrome, Von Willebrand Disease
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References in periodicals archive ?
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USH2A-related IRDs include retinitis pigmentosa associated with Usher syndrome type 2A and USH2A-associated autosomal recessive nonsyndromatic retinitis pigmentosa.
Iveric bio Advances LCA10 Minigene Programme and Expansion of Orphan Gene Therapy Portfolio with USH2A-Related Inherited Retinal Diseases Programme
Genetic counseling should be offered to BSS affected families.23 BSS like all autosomal recessive disorders is common in communities where incidence of consanguineous marriages is high emphasizing the need of identification of genetic mutations.
Bernard Soulier Syndrome: 10 years' experience at a tertiary care hospital
(3) Based on the Mendelian modes of inheritance, the HA are classified as autosomal recessive, autosomal dominant, and X-linked.
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
Hyperimmunoglobulinemia D with periodic fever syndrome is an autosomal recessive disorder that is associated with the MVK gene.
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses
Wilson's disease is an autosomal recessive disorder associated with copper metabolism and clinical findings arise from the damage that copper deposits cause at certain tissues like brain, liver and eyes.
Hereditary Disorders Mimicking Progressive Multiple Sclerosis
After mutational analysis, clinical re-evaluation revealed that both families were segregating autosomal recessive achromatopsia.
Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by severe reduction in the brain volume that affects especially the neocortex, and intellectual disability.
Homozygous Nonsense Mutation in the ASPM Gene Causes MCPH in Consanguineous Pakistani Families
Harlequin ichthyosis is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules.
Harlequin ichthyosis - a disturbing disorder
The final diagnosis was considered as CHF accompanied by autosomal recessive polycystic kidney disease (ARPKD).
An infant with cholestasis, acholic stool and high GGT levels
Netherton Syndrome is an autosomal recessive monogenic disease caused by mutations in the SPINK5 gene that encodes a serine peptidase inhibitor.
LifeMax Acquires Worldwide Right to Clinical Stage Orphan Asset

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