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This supported the idea that at least one form of DI is inherited in an X-linked recessive manner. Two other lineages, H and J, (both much smaller than AG) also present the appearance of heredity through an X-linked gene. ... Title: On Hereditary Diabetes Insipidus With Special Regard to a Sex-Linked Form...
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www.ndif.org/public/articles/412-On_Hereditary_Diabetes...
www.ndif.org/public/articles/412-On_Hereditary_Diabetes_Insipidus_With_Special_Regard_to_a_SexLinked_Form
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X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2). Thirty-three novel AVPR2 ... A missense mutation, S315R(g.1412C G), was identified in a large Brazilian kindred in which NDI appeared to segregate as an X-linked dominant trait (16).
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jasn.asnjournals.org/cgi/content/full/11/6/1044
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Several mutations in the AVPR2 and AQP2 genes have been reported to cause congenital nephrogenic diabetes insipidus (NDI), ... Mutations in the AVPR2 gene result in NDI that is inherited as an X-linked recessive trait, whereas mutations in the AQP2 gene cause NDI that is inherited as either an autosomal recessive or a...
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jasn.asnjournals.org/cgi/content/full/13/9/2267
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Of the genetic etiologies, the overall incidence in the general population is estimated to be 3 cases per 100,000 population (0.003%). The male-to-female ratio is 60:40. X-linked nephrogenic diabetes insipidus is very rare, although it exceeds the recessive variety by a ratio of 9:1. The mutation for males is 4 cases...
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emedicine.medscape.com/article/919886-overview
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Diabetes insipidus (DI) results from a deficiency of ADH due to a hypothalamic-pituitary disorder (central DI [CDI]) or from resistance of the kidney to ADH (nephrogenic DI [NDI]). Polyuria and polydipsia develop. ... Congenital nephrogenic diabetes insipidus (usually X-linked recessive trait)
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www.merck.com/mmpe/sec12/ch151/ch151h.html
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Most cases of hereditary NDI are inherited as an X-linked recessive trait. ... Portland, OR 97201-3098 telephone: (503) 494-7703 fax: (503) 494-6886 e-mail: wildinr@ohsu.edu; Researchers are studying the use of pharmacological chaperones as potential treatments for individuals with X-linked nephrogenic diabetes insipidus.
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www.cigna.com/healthinfo/nord335.html
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Nephrogenic Diabetes Insipidus ... Most cases of hereditary NDI are inherited as an X-linked recessive trait. Rare cases are inherited as an autosomal recessive or dominant trait. Two different genes have been identified that cause hereditary NDI.
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diabetes.webmd.com/diabetes-insipidus-10971
diabetes.webmd.com/diabetes-insipidus-10971
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As of 1989, researchers had not identified the gene (or genes) responsible for congenital nephrogenic diabetes insipidus (NDI). Knoers, et al., were able to track the location of the NDI-causing gene to a specific region of the X chromosome called the Xq28 region.
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www.ndif.org/public/articles/306-Linkage_Analyses_in_Fa...
www.ndif.org/public/articles/306-Linkage_Analyses_in_Families_with_Nephrogenic_Diabetes_Insipidus
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