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    Glossary Autosomal Dominant Disorder

    one mutated gene from either parent causes the condition

    An Autosomal Dominant Disorder is a genetic condition where only one copy of a mutated gene, inherited from either parent, is sufficient to cause the disorder. This means that if one parent has the disorder, there is a 50% chance that their child will inherit the condition. Examples include Huntington's disease and Marfan syndrome.

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    1. Androgenetic alopecia: An autosomal dominant disorder The American Journal of Medicine · 1995 · 80 citations
    2. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    3. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    4. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    5. Disorders of pigmentation in infants and children Clinics in Dermatology · 2002 · 2 citations
    6. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    7. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    8. Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report Cureus · 2026
    9. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    10. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
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