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6 Possible Causes for For Similar Autosomal Dominant Form See

  • CINCA Syndrome

    The bulk of cases are sporadic but familial forms with autosomal dominant transmission have also been described.[en.wikipedia.org] See also [ edit ] Deficiency of the interleukin-1–receptor antagonist (DIRA) Familial cold urticaria, a similar disease List of cutaneous conditions Muckle–Wells syndrome,[en.wikipedia.org]

  • Alport Syndrome

    There is also an autosomal dominant form (ADAS) which affects males and females with equal severity. Please see the Genetics of Alport syndrome for more information.[alportsyndrome.org] In autosomal recessive Alport syndrome (ARAS) the severity of disease in affected males and females is similar.[alportsyndrome.org]

  • Autosomal Dominant Spondylocostal Dysostosis

    See {122600} for an autosomal dominant form of spondylocostal dysostosis. {12:Eller and Morton (1970)} described similar deformity of the chest and spine, with additional[bio2rdf.org] The skeletons were otherwise normal. {26:Norum (1969)} observed 4 similar cases in 2 related sibships in an inbred community in eastern Kentucky.[bio2rdf.org]

  • Familial Isolated Hypoparathyroidism

    FIH exist both as autosomal dominant and recessive forms of hypoparathyroidism. Sequence similarities Belongs to the parathyroid hormone family.[abcam.com] Information by UniProt Database links Alternative names hPTH antibody Parathormone antibody Parathyrin antibody see all Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded[abcam.com]

  • Isolated Agammaglobulinemia

    […] agammaglobulinemia (see these terms) which includes recessive and dominant cases but is far less frequent.[orpha.net] The clinical signs of the two forms are very similar and include recurrent bacterial infections (otitis media, pneumonia, and sinusitis), diarrhea and skin infections with[orpha.net] […] pattern of inheritance of the genetic defects underlying the disorder: X-linked agammaglobulinemia (XLA) which represents approximately 85% of the affected patients, and autosomal[orpha.net]

  • Autosomal Recessive Spondylocostal Dysostosis

    See {122600} for an autosomal dominant form of spondylocostal dysostosis. {12:Eller and Morton (1970)} described similar deformity of the chest and spine, with additional[bio2rdf.org] The skeletons were otherwise normal. {26:Norum (1969)} observed 4 similar cases in 2 related sibships in an inbred community in eastern Kentucky.[bio2rdf.org]

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