Search
for

    Did you mean Autosomal Dominant Disorder?
    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.

    Related Terms

    Research 10 of 1000+

    1. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    2. 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
    3. Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families The Journal of Clinical Endocrinology & Metabolism · 1999 · 63 citations
    4. 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
    5. 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
    6. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    7. 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
    8. Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. Acta Dermato Venereologica · 1991 · 17 citations
    9. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    10. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    All research results →

    Learn

    — no results

    Try a deeper search in learn →

    Community

    — no results

    Try a deeper search in community →