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863 Possible Causes for Autosomal Dominant Inheritance in Most Types

  • Exostosis

    Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in females.[radiopaedia.org] Most patients are diagnosed by the age of 5 years, and virtually all are diagnosed by the age of 12 years.[radiopaedia.org] The number of exostoses, the degree and type of angular deformity, and even the rate of malignant transformation varies significantly, even within families.[radiopaedia.org]

  • Insulin Resistance

    Benign AN is usually congenital or develops during early childhood and may be inherited as an autosomal dominant trait.[dx.doi.org] Obesity-associated AN, also known as “pseudo-AN,” is the most common cause of AN worldwide and develops as an expression of insulin resistance.[dx.doi.org] Syndromic AN includes type A and B insulin resistance syndromes (e.g., Berardinelli-Seip syndrome, Lawrence syndrome), Crouzon's syndrome, and multiple other rare syndromic[dx.doi.org]

  • Thrombocytopenia

    Most cases of OCA are autosomal recessive; autosomal dominant inheritance is rare.[merck.com] There are 4 main genetic forms: Type I is caused by absent (OCA1A; 40% of all OCA) or reduced (OCA1B) tyrosinase activity; tyrosinase catalyzes several steps in melanin synthesis[merck.com]

  • Polyneuropathy

    This autosomal dominant type inheritance is among the demyelinating neuropathies. Affected individuals fall ill between the ages of five and 20.[lecturio.com] Hereditary spastic paraplegia HMSN VI: HMSN with optic atrophy HMSN VII: HMSN with retinitis pigmentosa Charcot-Marie-Tooth Syndrome (HMSN I) Charcot-Marie-Tooth disease is the most[lecturio.com]

  • Diabetes Mellitus

    *** Treatment PNDM KCNJ11 Kir6.2 Most common type of PNDM 3 to 6 months Autosomal dominant (10%) Spontaneous Yes Permanent (This gene also causes a transient form of NDM;[web.archive.org] *** Treatment MODY 1 HNF4A hepatocyte nuclear factor 4ɑ (alpha) Rare Adolescence or early adulthood Autosomal dominant No Permanent For most, oral sulfonylureas; some patients[web.archive.org] […] of Inheritance or Mutation ** Causes Intrauterine Growth Restriction?[web.archive.org]

  • Ichthyosis Vulgaris

    Ichthyosis vulgaris Epidemiology : most common type of hereditary ichthyosis Etiology : autosomal dominant inheritance ; associated with atopic diseases Clinical presentation[amboss.com] Ichthyosis vulgaris is the most common type, followed by X-linked ichthyosis.[amboss.com]

  • Hypothyroidism

    […] an autosomal dominant fashion. [18] Autoimmune polyendocrinopathy type 2 (Schmidt syndrome) is associated with adrenal insufficiency and hypothyroidism.[emedicine.com] Iodine deficiency or excess Worldwide, iodine deficiency is the most common cause of hypothyroidism.[emedicine.com] A subset of patients with this disease also have a high prevalence of autoimmune thyroiditis and hypothyroidism and a novel mutation in the AIRE gene that is inherited in[emedicine.com]

  • Hemochromatosis

    Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern.[ghr.nlm.nih.gov] In most cases, an affected person has one parent with the condition.[ghr.nlm.nih.gov] With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder.[ghr.nlm.nih.gov]

  • Lynch Syndrome

    A familial tendency was noted in some early case reports 3-9 with autosomal dominant inheritance first being recognised by Yates et al 10 in 1983 (MIM 176450).[jmg.bmj.com] There is an abundance of names describing this type of sacral agenesis and little consensus as to the most appropriate term.[jmg.bmj.com]

  • Lymphedema

    Most cases of hereditary lymphedema type IA and type II are inherited as autosomal dominant traits.[rarediseases.org]

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