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5,604 Possible Causes for Autosomal Dominant

  • Ichthyosis Vulgaris

    Wells RS, Kerr CB (1966) Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.[] Abstract Five patients with autosomal dominant ichthyosis vulgaris (ADI) were studied to see whether the abnormal keratinization was associated with disturbances of the appearance[] This condition is inherited in an autosomal dominant pattern.[]

  • Heterozygous Familial Hypercholesterolemia

    HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited.[] In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth.[] As a genetic condition, it runs in the family–specifically, FH is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his[]

  • Familial Adenomatous Polyposis

    Abstract Familial Adenomatous Polyposis (FAP) is an autosomal dominant disorder characterized by colonic polyps in early adult life.[] English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[] Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation.[]

  • Familial Hypercholesterolemia

    Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[] Abstract Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[]

  • Lynch Syndrome

    Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance.[] Abstract Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations[] Lynch syndrome is an autosomal-dominant cancer syndrome that can be identified with microsatellite instability molecular tests or immunohistochemical stains on pathologic[]

  • Hereditary Leiomyomatosis and Renal Cell Cancer

    The clinical diagnosis of the autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome was confirmed by identification of a fumarate hydratase gene[] HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene.[] HLRCC syndrome is a rare autosomal dominant disease, with patients at increased risk for cutaneous leiomyomas, early-onset uterine leiomyomas and aggressive renal carcinoma[]

  • Hypercholesterolemia

    RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[] Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive[] Alagille syndrome is a rare autosomal-dominant genetic disorder caused by defects in the Notch signaling pathway, which involves multiple organ systems.[]

  • Retinitis Pigmentosa

    In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.[] Our data identified two new autosomal dominant mutations in PRPF31, expanding the mutational spectrum of this gene.[] Genetic heterogeneity is present in autosomal dominant retinitis pigmentosa.[]

  • Autosomal Dominant Rhegmatogenous Retinal Detachment

    PURPOSE: To investigate the clinical features and molecular causes of autosomal dominant rhegmatogenous retinal detachment (RRD) in two large families.[] Saari KM (1986) Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment. Int Ophthalmol 9:45–60 PubMed Google Scholar 18.[] Genetics This is an autosomal dominant disease of collagen formation as a result of mutations in the COL2A1 gene (12q13.11-q13.2).[]

  • Benign Familial Neonatal Epilepsy

    Mutations in KCNQ2 or KCNQ3 cause benign familial neonatal convulsions (BFNC), a rare autosomal-dominant generalized epilepsy of newborns, by reducing the maximal current[] Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant generalized epilepsy of the newborn infant.[] Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in KCNQ2 and KCNQ3, two genes encoding for potassium channel subunits.[]

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