Create issue ticket

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.[] Most patients are diagnosed by the age of 5 years, and virtually all are diagnosed by the age of 12 years.[] The number of exostoses, the degree and type of angular deformity, and even the rate of malignant transformation varies significantly, even within families.[]

  • Insulin Resistance

    Benign AN is usually congenital or develops during early childhood and may be inherited as an autosomal dominant trait.[] Obesity-associated AN, also known as “pseudo-AN,” is the most common cause of AN worldwide and develops as an expression of insulin resistance.[] 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[]

  • Thrombocytopenia

    Most cases of OCA are autosomal recessive; autosomal dominant inheritance is rare.[] 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[]

  • Polyneuropathy

    This autosomal dominant type inheritance is among the demyelinating neuropathies. Affected individuals fall ill between the ages of five and 20.[] 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[]

  • 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;[] *** Treatment MODY 1 HNF4A hepatocyte nuclear factor 4ɑ (alpha) Rare Adolescence or early adulthood Autosomal dominant No Permanent For most, oral sulfonylureas; some patients[] […] of Inheritance or Mutation ** Causes Intrauterine Growth Restriction?[]

  • Ichthyosis Vulgaris

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

  • Hypothyroidism

    […] an autosomal dominant fashion. [18] Autoimmune polyendocrinopathy type 2 (Schmidt syndrome) is associated with adrenal insufficiency and hypothyroidism.[] Iodine deficiency or excess Worldwide, iodine deficiency is the most common cause of hypothyroidism.[] 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[]

  • Hemochromatosis

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

  • 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).[] There is an abundance of names describing this type of sacral agenesis and little consensus as to the most appropriate term.[]

  • Lymphedema

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

Further symptoms