Autosomal genes
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Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians. It is caused by mutations in the CFTR gene, leading to poor hydration of mucus and impairment of the respiratory, digestive, and reproductive organ functions. Advancements in medical care have led to markedly increased longevity of patients with cystic fibrosis, but new complications have emerged, such as early onset of colorectal cancer.
15p vibransone 28-03-2024 2 2 Download
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Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from the left ventricle (LV, n = 76) before and after ischemia, and tested the utility of differential ASE to identify genes associated with postoperative atrial fibrillation (poAF) and myocardial ischemia.
11p vioraclene 31-03-2024 3 2 Download
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In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.
24p viellison 28-03-2024 3 2 Download
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Genetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are important across biomedical fields including genetic counselling, disease research, and gene therapy. However, existing approaches for penetrance estimation require, for instance, large family pedigrees or availability of large databases of people affected and not affected by a disease.
13p vicwell 29-02-2024 3 1 Download
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Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). As per literature, most patients with ARCS died of persistent infections and bleeding by the age of 1 year.
6p vigojek 02-02-2024 6 1 Download
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Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It is mainly characterized by chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly, hepatomegaly, pallor, fatigue, iron overload, shortness of breath, hyperbilirubinemia, and gallstones might also prevail.
7p vigojek 02-02-2024 3 1 Download
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Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene.
5p vilazada 31-01-2024 2 2 Download
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Factor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is commonly known as Hageman trait and is inherited in both autosomal recessive or dominant patterns.
4p vitiki 30-01-2024 4 2 Download
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Situs inversus with levocardia is a rare anomaly in which the heart is present in the left chest but the abdominal viscera are transposed. It is caused by a single incomplete penetration of an autosomal recessive gene.
5p vitiki 30-01-2024 7 2 Download
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Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene. According to its severity, patients may present with skin nodules or visceral infiltration, which carries a poor prognosis.
6p vitiki 30-01-2024 5 2 Download
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Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness.
5p vitiki 30-01-2024 5 2 Download
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Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due to severe neurological complications.
5p vitiki 30-01-2024 7 2 Download
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Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.
197p oursky09 08-11-2023 7 3 Download
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Part 1 book "Genetics in medicine" includes content: Introduction to the human genome; the human genome, human genetic diversity - mutation and polymorphism; principles of clinical cytogenetics and genome analysis; the chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes; patterns of single gene inheritance,.... and other contents.
197p oursky05 20-09-2023 4 1 Download
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Part 1 book "Medical genetics " includes contents: Background and history; basic cell biology - Structure and function of genes and chromosomes, genetic variation - Its origin and detection, autosomal dominant and recessive inheritance, sex linked and nontraditional modes of inheritance, clinical cytogenetics - The chromosomal basis of human disease; biochemical genetics - Disorders of metabolism.
163p oursky01 17-07-2023 3 2 Download
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Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris. There are four types of Waardenburg syndrome (1–4) with different characteristics.
11p vigamora 23-05-2023 5 3 Download
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Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy.
5p vigamora 23-05-2023 3 2 Download
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Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus.
6p vidoctorstrange 06-05-2023 4 2 Download
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Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns in Japanese families with MO.
7p vinarcissa 21-03-2023 4 1 Download
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Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject’s species.
6p vinarcissa 21-03-2023 3 1 Download