monogenic disease


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Noun1.monogenic disease - an inherited disease controlled by a single pair of genesmonogenic disease - an inherited disease controlled by a single pair of genes
monogenic disorder
SCID, severe combined immunodeficiency, severe combined immunodeficiency disease - a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited genetically
cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis, CF - the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia
dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
neurofibromatosis, von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease - a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
infantile amaurotic idiocy, Sachs disease, Tay-Sachs, Tay-Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia - an inherited form of anemia caused by faulty synthesis of hemoglobin
familial hypercholesterolemia - congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
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References in periodicals archive ?
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
Ophthotech announced that it has entered into an exclusive global license agreement with the University of Florida Research Foundation and the University of Pennsylvania to develop and commercialize a novel adeno-associated virus, or AAV, gene therapy product for the treatment of rhodopsin-mediated autosomal dominant retinitis pigmentosa, or RHO-adRP, an orphan monogenic disease that is characterized by progressive and severe loss of vision leading to blindness.
Ophthotech enters license agreements with University of Florida, Pennsylvania
While we have experience in underwriting and assessing risk for disorders where there is a single gene error (monogenic disease), genomics is now looking at diseases where there are complex and multiple gene variants that may contribute to a person developing a disease or disorder.
Looking Within: The medical community is studying individuals' genomes to not only cure diseases but also assess and prevent illnesses before they occur
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic disease. The mutation is in PKD1 or PKD2 gene (85%, 15%) respectively.
AN INTERESTING CASE OF ABDOMINAL MASS
Even though the recent advances in human research methods are more promising than using animals, still some difficulties exist as the lessons learned from monogenic disease are not readily translatable to polygenic diabetes [13].
Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity
Amaryan et al., "Results from a multicentre international registry of Familial Mediterranean fever: Impact of environment on the expression of a monogenic disease in children," Annals of the Rheumatic Diseases, vol.
Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?
CF is the most frequent monogenic disease in Caucasians but is rare in Asian.
Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in CFTR
VHL disease is a rare, autosomal dominant, monogenic disease arising from heterozygous mutations of the VHL gene, located on chromosome 3p25.3.
Von Hippel-Lindau disease: The importance of retinal hemangioblastomas in diagnosis
Alpha (a) thalassemia is a monogenic disease that characterized by decrease or absent synthesis of the a-globin chains due to deletion or mutation in a-globin gene.
Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population
Phenotype-genotype relationships in monogenic disease: lessons from the Thalassemias.
Prevalence of variant hemoglobins and thalassemias in a maroon community in Sergipe, Brazil/Prevalencia de hemoglobinas variantes e talassemia em uma comunidade quilombola em Sergipe, Brasil
A Mendelian or monogenic disease is caused by a change in a single letter out of the 3.2 billion.
Breakthrough in Qatari genome mapping to help doctors tackle hereditary disorders
In the former case, discovery efforts continue globally, and over time we will understand the primary genetic lesions that cause all monogenic disease. Because we now have the ability to sequence the entire coding region of the human genome (all ~23,000 genes) and the flanking regions of those genes, or the "exome," in a single assay for the same price as using Sanger sequencing for only one or two genes, we now have the ability to correctly diagnose 100% of patients who have monogenic disease.
Integrating clinical genomics into the standard of care for medical providers

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