recessive disorder

recessive disorder

Any disease passed from one generation to the next by the inheritance of recessive genes.
References in periodicals archive ?
It is a rare autosomal recessive disorder. The skin development is altered in utero due to defective lipid metabolism in lamellar granules of the keratinocytes.
Although the gene was not discovered until 1996, recognition that FA is an autosomal recessive disorder occurred in 1976 (11).
MDM is a rare autosomal recessive disorder characterized by abnormal thickening of the skin of palms and soles with sharp demarcation that appears soon after birth and progresses with age on to the dorsal surface of hands and feet.
An example of an autosomal recessive disorder is Unverricht-Lundborg disease, which begins near the end of the first decade of life.
Hemochromatosis may be the most common autosomal recessive disorder in whites, she observed, but it is not clear what proportion of affected individuals actually develop severe disease.
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder. Endocr J 2014;61:629-633.
DISCUSSION: Hyalinosis cutis et mucosae is a rare autosomal recessive disorder due to mutations in the extracellular matrix protein 1 (EMC 1) gene.
Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid- Schiff-positive diastase resistant material in skin mucous membrane and internal organs.
Hemochromatosis is an autosomal recessive disorder of iron metabolism affecting 0.2%-0.5% of white populations.
The most common form of Ectodermal Dysplasias, Christ-Siemens-Touraine syndrome {MIM 305100}, commonly known as anhidrotic/hypohidrotic ectodermal dysplasia (HED), is an X-linked recessive disorder characterized by heat intolerance, absence of sweat glands and abnormal spiky or absent teeth.
ACD was initially considered to be synonymous with Fabry's disease, first described by Anderson and Fabry independently in 1898.9 It is a rare X-linked recessive disorder, with an incidence of about 1:40 000,10 caused by the mutation in a-galactosidase, a gene on long arm of X chromosome11 and subsequent deficiency of lysosomal hydrolase, alpha-galactosidase, which results in the progressive deposition of uncleaved neutral glycosphingolipids, predominantly a-galactosyl-lactosyl ceramide (trihexosyl ceramide) within the lysosomes of endothelial, perithelial, smooth muscle cells, autonomic nervous system, kidneys, eyes and heart.12
The syndrome, also known as chondro-ectodermal dysplasia, is an autosomal recessive disorder with mutations of the EVC-1 and EVC-2 genes located on chromosome 4P16.