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1,122 Possible Causes for Autosomal Recessive Inheritance Is Most Common

  • Oral Candidiasis

    Most cases are sporadic, although, an autosomal recessive inheritance pattern has been noted and can be correlated with the severity of the lesion.[] common presentation clinically.[] […] a poor response to treatment with topical antifungal agents. [44] Candidal infections usually present within the first few years of life. [9] Hyperplastic lesion is the most[]

  • Restless Legs Syndrome

    […] significant results in our previous study, 13 namely, the inheritance pattern was considered to be more likely as autosomal recessive with a common disease allele and a reduced[] Although a brief inspection of most pedigrees suggests a mode of transmission compatible with an autosomal dominant mode of inheritance, in agreement with our original findings[] , 13 a recessive model with common disease alleles consistently yielded higher lod scores compared with dominant models with either common or rare disease alleles or a recessive[]

  • Acidosis

    PDC deficiency can be inherited as an autosomal recessive or X-linked recessive trait.[] It is generally considered to be the most common cause of biochemically proven cases of congenital lactic acidosis.[]

  • Hypercholesterolemia

    recessive hypercholesterolemia (ARH) adaptor protein may also lead to elevation of LDL-C to variable levels. 2 FH is among the most common inherited metabolic disorders,[] […] concentration of low-density lipoprotein cholesterol (LDL-C). 1 Less common defects in apolipoprotein B 100 (Apo B-100), proprotein convertase subtilisin/kexin 9 (PCSK9), and the autosomal[]

  • Anxiety Disorder

    Ornithine transcarbamylase (OTC) deficiency is the most common as it is an X-linked recessive condition, while the other deficiencies have an autosomal recessive pattern of[] inheritance.[]

  • Hemochromatosis

    autosomal recessive mutations C282Y allele is most common Prognosis produces arthritis and chondrocalcinosis in 50% of patients treatment returns life expectancy to normal[] It is the most common autosomal-recessive inherited disease. Hemochromatosis usually occurs in men above the age of 50 years.[] Hemochromatosis inherited as an autosomal recessive disorder is the most common genetic iron overload disorder.[]

  • Stroke

    This disorder is inherited in an autosomal recessive manner. Symptoms usually manifest early in life.[] Patients have a marfanoid habitus, ectopia lentis, and myopia and generally have intellectual disability. [29] Thromboembolic events are the most common cause of death for[]

  • Hypertrophic Cardiomyopathy

    […] as autosomal recessive traits; most common metabolic disorders with hypertrophy are Anderson-Fabry disease, (mutations in the γ2 subunit of the adenosine monophosphate activated[] Penetrance In the United States, HCM is one of the most common monogenic (single gene) inherited cardiovascular conditions; it is also the most common cause of sudden cardiac[] […] enlarged LV cavity, normal diastolic function, pattern of LV hypertrophy is contiguous with decrease in wall thickness during short deconditioning periods Metabolic disorders: Inherited[]

  • Familial Hypercholesterolemia

    What is the most common mode of inheritance of familial hypercholesterolemia?[] These mutations are inherited in an autosomal recessive fashion and lead to chylomicronemia [ 3 ].[] Answers Teaching Points Click Your Answer Below Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Would you like to access teaching points and more[]

  • Congenital Deafness

    […] than genetic deafness by roughly 2 orders of magnitude, congenital deafness occurs in 1 per every 1000-2000 births with autosomal recessive inheritance being the most common[] Hearing Page Page last modified: February 2, 2018 Return to hearing page Brown-Vialetto EVA Mondini While acquired deafness associated with age or noise exposure is more common[] As one of the most common genetic causes of hearing loss, GJB2-related hearing loss is an autosomal recessive genetic disorder because the mutations only cause deafness in[]

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