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491 Possible Causes for Autosomal Dominant with Complete Penetrance

  • Achondroplasia

    It is inherited as an autosomal dominant disease with essentially complete penetrance.[ncbi.nlm.nih.gov] Achondroplasia is inherited as an autosomal dominant with essentially complete penetrance. [2] Patients demonstrate unique radioclinical features that are readily detectable[doi.org]

  • Exostosis

    Risk factors Inheritance is autosomal dominant, with near-complete penetrance.[patient.info]

  • Gorlin Syndrome

    Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity.[ncbi.nlm.nih.gov] This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity.[moh-it.pure.elsevier.com] […] with complete penetrance and variable expressivity.[ncbi.nlm.nih.gov]

  • Holt Oram Syndrome

    In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted[ncbi.nlm.nih.gov] Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov] The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene[ncbi.nlm.nih.gov]

  • Calcium Pyrophosphate Arthropathy

    Some cases are familial, usually transmitted in an autosomal dominant pattern, with complete penetration by age 40.[merckmanuals.com]

  • Alzheimer Disease

    OBJECTIVE: To perform PGD for early-onset Alzheimer disease (AD), determined by nearly completely penetrant autosomal dominant mutation in the amyloid precursor protein (APP[ncbi.nlm.nih.gov]

  • Autosomal Dominant Prognathism

    dominant disorder with complete penetrance and variable expressivity.[mjdrdypu.org] Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity.[dolphintherapy.eu] Most striking characteristic is melanotic macular pigmentation on eyes, nose and mouth, Lips, Buccal mucosa of 98% pt (diminishes w/age) Autosomal Dominant Inheritance, complete[quizlet.com]

  • Malignant Esophageal Neoplasm

    It may also be referred to as hyperkeratosis palmaris et plantaris or Howel–Evans syndrome, is inherited in an autosomal dominant manner and has complete penetrance [Blaydon[symptoma.com]

  • Familial Adenomatous Polyposis

    FAP is an autosomal dominant inherited disease with near complete penetrance.[clinicaladvisor.com] Familial polyposis syndromes have autosomal dominant inheritance with almost complete penetrance but marked variation in expression.[patient.info] Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with near complete penetrance whereby hundreds to thousands of polyps develop in the colon.[clinicaladvisor.com]

  • Fibrodysplasia Ossificans Progressiva

    Abstract Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant trait with complete penetrance[ncbi.nlm.nih.gov] The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity.[ncbi.nlm.nih.gov]

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