congenital nephrogenic diabetes insipidus
The definitions used in this glossary of terminology either have been provided by the authors of the articles, or have been extracted wholly or in part, or paraphrased from the following sources: The American Medical Association Encyclopedia of Medicine, Charles B. Clayman, MD, Medical Editor, Random House, New York, 1989; Biotechnology from A to Z, 2d Edition, William Bains, Oxford University Press, New York, New York, 2002; A Dictionary of Genetics, 6th Edition, Robert C. King and William D. Stansfield, Oxford University Press, New York, New York, 2002; Dorland's Illustrated Medical Dictionary, 29th and 30th Editions, W. B. Saunders Company, Philadelphia, 2000, 2003; Genes VII, Benjamin Lewin, Oxford University Press, New York, New York, 2000; The Gale Encyclopedia of Genetic Disorders, Volumes I and II, Stacey L. Blachford, Ed., Thomson Learning, New York, New York, 2002; The Merriam-Webster Dictionary, Merriam-Webster, Inc., Springfield, Massachusetts, 1997; Molecular Biology of the Cell, 3rd Edition, Bruce Alberts, et al., Garland Publishing, 1994; The Random House Dictionary of the English Language, Unabridged Edition, 1966; Webster's Ninth New Collegiate Dictionary, 1991.
DEFINITION:
- congenital nephrogenic diabetes insipidus
-
A condition involving the kidneys (see nephrogenic diabetes insipidus) which exists at, and usually before, birth. Congenital refers to conditions that are present at birth, regardless of their causation.
Used in 69 Article abstracts
Used in 69 Article abstracts
- Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene in Congenital Nephrogenic Diabetes Insipidus Patients
- 1-Desamino-8-D-Arginine Vasopressin (DDAVP) in Patients with Congenital Nephrogenic Diabetes Insipidus
- A Low Affinity Vasopressin V2-Receptor in Inherited Nephrogenic Diabetes Insipidus
- A Novel Mutation in the Renal V2 Receptor Gene in a Boy with Trisomy 21
- A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
- A Variant of Nephrogenic Diabetes Insipidus: V2 Receptor Abnormality Restricted to the Kidney
- AVPR2 Variants and V2 Vasopressin Receptor Function in Nephrogenic Diabetes Insipidus
- An Extracellular Congenital Nephrogenic Diabetes Insipidus Mutation of the Vasopressin Receptor Reduces Cell Surface Expression, Affinity for Ligand, and Coupling to the Gs/adenylyl Cyclase System
- Analysis of Vasopressin Receptor Type II (V2R) Gene in Three Japanese Pedigrees with Congenital Nephrogenic Diabetes Insipidus: Identification of a Family with Complete Deletion of the V2R Gene
- Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus
- Characterization of an Aquaporin-2 Water Channel Gene Mutation Causing Partial Nephrogenic Diabetes Insipidus in a Mexican Family: Evidence of Increased Frequency of the Mutation in the Town of Origin
- Clinical Characteristics of Eight Patients with Congenital Nephrogenic Diabetes Insipidus
- Clinical Presentation and Follow-Up of 30 Patients with Congenital Nephrogenic Diabetes Insipidus
- Clinical Utility of Direct Mutation Testing for Congenital Nephrogenic Diabetes Insipidus in Families
- Cognitive and Psychosocial Functioning of Patients with Congenital Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus in an Adult
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Effects of Arginine Vasopressin and 1-Desamino-8-D Arginine Vasopressin on Forearm Vasculature of Healthy Subjects and Patients with a V2 Receptor Defect
- Efficacy of COX-2 Inhibitors in a Case of Congenital Nephrogenic Diabetes Insipidus
- Epinephrine and dDAVP Administration in Patients with Congenital Nephrogenic Diabetes Insipidus. Evidence for a pre-cyclic AMP V2 Receptor Defective Mechanism
- Evidence for Intact V1-vasopressin Receptors in Congenital Nephrogenic Diabetes Insipidus
- Fibrinolytic Responses to 1-desamino-8-D-arginine-vasopressin in Patients with Congenital Nephrogenic Diabetes Insipidus
- Functional Rescue of Vasopressin V2 Receptor Mutants in MDCK Cells by Pharmacochaperones: Relevance to Therapy of Nephrogenic Diabetes Insipidus
- Genetics of Vasopressin Receptors
- Hemodynamic and Coagulation Responses to 1-desamino[8-D-arginine] Vasopressin in Patients with Congenital Nephrogenic Diabetes Insipidus
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response
- Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene Causing Nephrogenic Diabetes Insipidus in Chinese Patients
- Inheritance of Mutations in the V2 Receptor Gene in Thirteen Families with Nephrogenic Diabetes Insipidus
- Meniere's Disease in Congenital Nephrogenic Diabetes Insipidus: Report of Two Twins
- Misfolded Vasopressin V2 Receptors Caused by Extracellular Point Mutations Entail Congenital Nephrogenic Diabetes Insipidus.
- Molecular Identification of the Gene Responsible for Congenital Nephrogenic Diabetes Insipidus
- Molecular Insights into the Pathogenesis of Inherited Renal Tubular Disorders
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus (Knoers, Deen)
- Mutations in the Vasopressin V2 Receptor Gene in Two Families with Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in 12 Families with Congenital Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus (Bichet - November 1998)
- Nephrogenic Diabetes Insipidus. A V2 Vasopressin Receptor Unable to Stimulate Adenylyl Cyclase
- Nephrogenic Diabetes Insipidus: Identification of the Genetic Defect
- Nephrogenic diabetes insipidus.
- Novel Mutations in the V2 Vasopressin Receptor Gene in Two Pedigrees with Congenital Nephrogenic Diabetes Insipidus
- Platelet Vasopressin Receptors in Patients With Congenital Nephrogenic Diabetes Insipidus
- Polyuria and Polydipsia. Problems Associated with Patient Evaluation
- Proposed Cause of Marked Vasopressin Resistance in a Female with an X-Linked Recessive V2 Receptor Abnormality
- Role of Aquaporins in Water Balance Disorders
- Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene
- Successful Treatment of Partial Nephrogenic Diabetes insipidus with Thiazide and Desmopressin
- Successful Treatment with Hydrochlorothiazide and Amiloride in an Infant with Congenital Nephrogenic Diabetes Insipidus
- The Aquaporin Family of Water Channel Proteins in Clinical Medicine
- The Proteasome is Involved in the Degradation of Different Aquaporin-2 Mutants Causing Nephrogenic Diabetes Insipidus
- Three Novel AVPR2 Mutations in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus
- Treatment of Congenital Nephrogenic Diabetes Insipidus by Hydrochlorothiazide and Cyclooxygenase-2 Inhibitor
- Treatment of Congenital Nephrogenic Diabetes insipidus with Hydrochlorothiazide and Amiloride in an Adult Patient
- Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
- Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
- Two Novel Mutations in the Vasopressin V2 Receptor Gene in Patients with Congenital Nephrogenic Diabetes Insipidus
- Vasopressin Receptor Mutations Causing Nephrogenic Diabetes Insipidus
- Vasopressin Receptors in Health and Disease
- Vasopressin and Oxytocin Receptors
- Water Channels Encoded by Mutant Aquaporin-2 Genes in Nephrogenic Diabetes Insipidus are Impaired in Their Cellular Routing
- Water Transport Across Mammalian Cell Membranes
- Water Transport in the Kidney and Nephrogenic Diabetes Insipidus
- [Congenital Nephrogenic Diabetes Insipidus] (French)
- [Hereditary Nephrogenic Diabetes Insipidus] (French)
- [Nephrogenic Diabetes Insipidus] (Hungarian)
- [Non-Lithiasic Hereditary Tubulopathies] (Article in French)
- [Pathological Aspects of Water Transport in the Collecting Ducts] (French)
Used in 6 Article bodies
Used in 6 Article bodies
- Analysis of Vasopressin Receptor Type II (V2R) Gene in Three Japanese Pedigrees with Congenital Nephrogenic Diabetes Insipidus: Identification of a Family with Complete Deletion of the V2R Gene
- Hereditary Vasopressin Resistance in Man and Mouse
- Intracranial Calcification in Nephrogenic Diabetes Insipidus
- Molecular Analysis of X-Linked Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus: A Cause of Severe Nonobstructive Urinary Tract Dilatation
- Proposed Cause of Marked Vasopressin Resistance in a Female with an X-Linked Recessive V2 Receptor Abnormality
Used in 46 Article translations
Used in 46 Article translations
- A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
- A Variant of Nephrogenic Diabetes Insipidus: V2 Receptor Abnormality Restricted to the Kidney
- An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
- Analysis of Vasopressin Receptor Type II (V2R) Gene in Three Japanese Pedigrees with Congenital Nephrogenic Diabetes Insipidus: Identification of a Family with Complete Deletion of the V2R Gene
- Aquaporin-2 Water Channel Mutations and Nephrogenic Diabetes Insipidus: New Variations on a Theme
- Autosomal Recessive Inheritance of Vasopressin-Resistant Diabetes Insipidus
- Brief Report: A Molecular Defect in the Vasopressin V2-Receptor Gene Causing Nephrogenic Diabetes Insipidus
- Clinical Utility of Direct Mutation Testing for Congenital Nephrogenic Diabetes Insipidus in Families
- Congenital Nephrogenic Diabetes Insipidus
- Derivatives of Somatic Cell Hybrids Which Carry the Human Gene Locus for Nephrogenic Diabetes Insipidus (NDI) Express Functional Vasopressin Renal V2-type Receptors
- Desmopressin for Nocturnal Enuresis in Nephrogenic Diabetes Insipidus
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Efficacy of COX-2 Inhibitors in a Case of Congenital Nephrogenic Diabetes Insipidus
- Epinephrine and dDAVP Administration in Patients with Congenital Nephrogenic Diabetes Insipidus. Evidence for a pre-cyclic AMP V2 Receptor Defective Mechanism
- Evidence for Intact V1-vasopressin Receptors in Congenital Nephrogenic Diabetes Insipidus
- Familial Nephrogenic Diabetes Insipidus: Report of Two Families
- Fibrinolytic Responses to 1-desamino-8-D-arginine-vasopressin in Patients with Congenital Nephrogenic Diabetes Insipidus
- Functional Studies of Twelve Mutant V2 Vasopressin Receptors Related to Nephrogenic Diabetes Insipidus: Molecular Basis of a Mild Clinical Phenotype
- GS-Activating Receptors: Modes of Transmembrane Signalling and Genetic Defects
- Genetic Restoration of Aldose Reductase to the Collecting Tubules Restores Maturation of the Urine Concentrating Mechanism
- High Serum Immunoreactive Trypsin Not Caused by Cystic Fibrosis (letter)
- Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response
- Intracanial Calcifications and Nephrogenic Diabetes Insipidus
- Intracranial Calcification in Nephrogenic Diabetes Insipidus
- Intracranial Calcification in Siblings with Nephrogenic Diabetes Insipidus: CT and MRI
- Intrafamilial Phenotype Variability in Nephrogenic Diabetes Insipidus
- Is Testing with dDAVP Useful in Detecting Carriers of the Nephrogenic Diabetes Insipidus Gene?
- Linkage Analyses in Families with Nephrogenic Diabetes Insipidus
- Misfolding of Mutant Aquaporin-2 Water Channels in Nephrogenic Diabetes Insipidus
- Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in 12 Families with Congenital Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
- Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
- Nephrogenic Diabetes Insipidus: Identification of the Genetic Defect
- Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
- Prevention of Intracranial Calcifications and Brain Damage Associated with Nephrogenic Diabetes Insipidus [Letter; Comment]
- Proposed Cause of Marked Vasopressin Resistance in a Female with an X-Linked Recessive V2 Receptor Abnormality
- Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes Insipidus
- Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene
- Successful Treatment with Hydrochlorothiazide and Amiloride in an Infant with Congenital Nephrogenic Diabetes Insipidus
- The Vasopressin Type 2 Receptor Gene. Chromosomal Localization and Its Role in Nephrogenic Diabetes Insipidus
- Three Novel AVPR2 Mutations in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus
- Traumatic Rupture of the Urinary Tract in a Patient Presenting Nephrogenic Diabetes Insipidus Associated with Hydronephrosis and Chronic Renal Failure: Case Report and Review of the Literature
- Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
- Use of T1-weighted MR Imaging to Differentiate between Primary Polydipsia and Central Diabetes Insipidus
Used in 13 Proceeding abstracts
Used in 13 Proceeding abstracts
- Binding properties and cAMP production study of 7 mutant V2 receptors related to cNDI
- Clinical Phenotype and Molecular Characterization of A Mutant V2 Receptor Associated with Partial Congenital Nephrogenic Diabetes Insipidus
- Clinical analysis of eight Japanese patients with congenital nephrogenic diabetes insipidus
- Consequences of tetramerization and expression levels of Aquaporin-2 in phenotype-genotype correlation studies in autosomal NDI
- Decrease in urine volume and increase in urine osmolality after SR49059 administration in five adult male patients with X-linked nephrogenic diabetes insipidus
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Growth in males with (well-managed) nephrogenic diabetes insipidus
- Identification of proteins involved in the vasopressin-induced shuttle of aquaporin-2
- Molecular mechanisms underlying dominant Nephrogenic Diabetes Insipidus caused by mutations in the AQP2 gene
- Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus
- Mutations of the vasopressin V2 receptor gene in X-linked Nephrogenic Diabetes Insipidus: functional analysis of receptor mutants and identification of new mutations in Italian families.
- Nephrogenic diabetes insipidus in Italian families
- Transport Defects of V2 Receptor Mutants Found in Patients with X-linked Nephrogenic Diabetes Insipidus
Used in 6 Proceeding translations
Used in 6 Proceeding translations
- Analysis of naturally occurring and in vitro mutations of the V2 receptor gene interfering with proper splicing
- Congenital (present a birth) severe diabetes insipidus. Most patients have nephrogenic diabetes insipidus (NDI), but some patients have autosomal recessive central (neurogenic) diabetes insipidus
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Growth in males with (well-managed) nephrogenic diabetes insipidus
- Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus
- Mutations of the vasopressin V2 receptor gene in X-linked Nephrogenic Diabetes Insipidus: functional analysis of receptor mutants and identification of new mutations in Italian families.
