disorder
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:
- disorder
-
A derangement or abnormality of function; a morbid physical or mental state.
Used in 21 Article abstracts
Used in 21 Article abstracts
- A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
- Binding-, Intracellular Transport-, and Biosynthesis-Defective Mutants of Vasopressin Type 2 Receptor in Patients with X-Linked Nephrogenic Diabetes Insipidus
- Cognitive and Psychosocial Functioning of Patients with Congenital Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus
- Expression Studies of Two Vasopressin V2 Receptor Gene Mutations, R202C and 804insG, in Nephrogenic Diabetes Insipidus
- Familial Nephrogenic Diabetes Insipidus: Report of Two Families
- Glycosylation is Important for Cell Surface Expression of the Water Channel Aquaporin-2, But is Not Essential for Tetramerization in the Endoplasmic Reticulum
- Molecular Pathogenesis of Nephrogenic Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus (Knoers, Deen)
- Mutations in the V2 Vasopressin Receptor Gene are Associated with X-linked Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus--Prodromal Phase of Multiple Myeloma
- Nephrogenic Diabetes Insipidus: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
- Nephrogenic Diabetes Insipidus: Clinical Symptoms, Pathogenesis, Genetics and Treatment
- The Management of Diabetes Insipidus in Adults
- Three-point Linkage Analysis using Multiple DNA Polymorphic Markers in Families with X-linked Nephrogenic Diabetes Insipidus
- Two Vasopressin Type 2 Receptor Gene Mutations R143P and Delta V278 in Patients with Nephrogenic Diabetes Insipidus Impair Ligand Binding of the Receptor
- Water Channels Encoded by Mutant Aquaporin-2 Genes in Nephrogenic Diabetes Insipidus are Impaired in Their Cellular Routing
- Water Channels and Urea Transporters
- [Clinical Spectrum of Distal Renal Tubular Acidosis and Its Study with Bicarbonate Loading] (Hungarian)
- [Simultaneous Familial Occurrence of Distal Renal Tubular Acidosis, Polycystic Kidney and Nephrogenic Diabetes Insipidus] (Hungarian)
Used in 9 Article bodies
Used in 9 Article bodies
- A Novel Polymorphism in the Coding Region of the Vasopressin Type 2 Receptor Gene
- Hereditary Vasopressin Resistance in Man and Mouse
- Inborn Errors of Signal Transduction: Mutations in G Proteins and G Protein-coupled Receptors as a Cause of Disease
- Index of Suspicion. Case 2. Nephrogenic Diabetes Insipidus
- Intracranial Calcification in Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus Secondary to Lithium Therapy in the Postoperative Patient: A Case Report
- Nephrogenic Diabetes Insipidus in North America. The Hopewell Hypothesis
- Nephrogenic Diabetes Insipidus--Prodromal Phase of Multiple Myeloma
Used in 112 Article translations
Used in 112 Article translations
- A Family Case of Nephrogenic Diabetes Insipidus
- 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
- ARDS Following Acute Lithium Carbonate Intoxication
- Aggravation of Subclinical Diabetes Insipidus During Pregnancy
- An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
- 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
- Aquaporin-2 Water Channel Mutations and Nephrogenic Diabetes Insipidus: New Variations on a Theme
- Aquaporins: From Physiology to Nephrogenic Diabetes Insipidus
- Assignment of the Human Gene for the Water Channel of Renal Collecting Duct Aquaporin 2 (AQP2) to Chromosome 12 Region q12-->q13
- Autosomal Recessive Inheritance of Vasopressin-Resistant Diabetes Insipidus
- Bilateral Ureteral Obstruction Downregulates Expression of Vasopressin-Sensitive AQP-2 Water Channel in Rat Kidney
- Brief Report: A Molecular Defect in the Vasopressin V2-Receptor Gene Causing Nephrogenic Diabetes Insipidus
- Brief Report: A Mutation in the Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
- Clinical Utility of Direct Mutation Testing for Congenital Nephrogenic Diabetes Insipidus in Families
- Cloning, Characterization, and Chromosomal Mapping of Human Aquaporin of Collecting Duct
- Cognitive and Psychosocial Functioning of Patients with Congenital Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus in an Adult
- Correlation between Magnetic Resonance Imaging of Posterior Pituitary and Neurohypophyseal Function in Children with Diabetes Insipidus
- Defective Aquaporin-2 Trafficking in Nephrogenic Diabetes Insipidus and Correction by Chemical Chaperones
- Defects of G Protein-Coupled Signal Transduction in Human Disease
- Desmopressin for Nocturnal Enuresis in Nephrogenic Diabetes Insipidus
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Development of Lithium-Induced Nephrogenic Diabetes Insipidus is Dissociated from Adenylyl Cyclase Activity
- Diabetes Insipidus (Hendy, Bichet)
- Diabetes Insipidus (Robertson)
- Diabetes Insipidus [Bell]
- Disordered Water Channel Expression and Distribution in Acquired Nephrogenic Diabetes Insipidus
- Evaluation and Management of Diabetes Insipidus
- Fibrinolytic Responses to 1-desamino-8-D-arginine-vasopressin in Patients with Congenital Nephrogenic Diabetes Insipidus
- Folding and Cell Surface Expression of the Vasopressin V2 Receptor: Requirement of the Intracellular C-terminus
- G-Protein-Coupled Receptors in Endocrine Disease
- G-Protein-Coupled Receptors: Molecular Mechanisms Involved in Receptor Activation and Selectivity of G-Protein Recognition
- Genetic Renal Diseases in Children
- Heat Shock Protein 70 Interacts with Aquaporin-2 (AQP2) and Regulates Its Trafficking
- Hereditary Nephrogenic Diabetes Insipidus
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Hypokalemic Nephropathy and Nephrogenic Diabetes Insipidus Due to Excessive Consumption of a Soft Drink
- Hyponatremia and Hypernatremia
- Kidney Damage in Long-Term Lithium Patients: A Cross-Sectional Study of Patients with 15 Years or More on Lithium
- Lithium Nephrotoxicity
- Lithium-Induced Nephrogenic Diabetes Insipidus Treated with Intravenous Ketorolac
- Lithium-induced Nephrogenic Diabetes Insipidus
- Long-Term Regulation of Urinary Concentrating Capacity
- Meniere's Disease in Congenital Nephrogenic Diabetes Insipidus: Report of Two Twins
- Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
- Molecular Analysis of X-Linked Nephrogenic Diabetes Insipidus
- Molecular Biology of 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 Biology of Vasopressin and Oxytocin Receptors and Action in the Kidney
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Mutations in the V2 Vasopressin Receptor Gene are Associated with X-linked Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2 Receptor Gene in Families with Nephrogenic Diabetes Insipidus and Functional Expression of the Q-2 Mutant
- Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in 12 Families with Congenital Nephrogenic Diabetes Insipidus
- Nature and Recurrence of AVPR2 Mutations in X-Linked Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus (Bichet - November 1998)
- Nephrogenic Diabetes Insipidus (Bichet)
- Nephrogenic Diabetes Insipidus Secondary to Lithium Therapy in the Postoperative Patient: A Case Report
- Nephrogenic Diabetes Insipidus and Tethered Cord Syndrome with a Lipoma of the Cauda Equina
- Nephrogenic Diabetes Insipidus in North America. The Hopewell Hypothesis
- Nephrogenic Diabetes Insipidus in Sibling Colts
- Nephrogenic Diabetes Insipidus in a Lethargic Lithium-Treated Patient
- Nephrogenic Diabetes Insipidus--Prodromal Phase of Multiple Myeloma
- Nephrogenic Diabetes Insipidus: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
- Nephrogenic Diabetes Insipidus: Causes Revealed
- Nephrogenic Diabetes Insipidus: Clinical Symptoms, Pathogenesis, Genetics and Treatment
- 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
- Nephrogenic Diabetes Insipidus: Transmitted by Females and Appearing During Infancy in Males
- New Mutations in the AQP2 Gene in Nephrogenic Diabetes Insipidus Resulting in Functional but Misrouted Water Channels
- Normal Fibrinolytic Responses to 1-Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes Insipidus Caused by Mutations in the Aquaporin 2 Gene
- On Hereditary Diabetes Insipidus With Special Regard to a Sex-Linked Form
- Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
- Pharmacological Chaperones: Potential Treatment for Conformational Diseases
- Physiology and Pathophysiology of Aquaporins
- Physiology and Pathophysiology of the Aquaporin-2 Water Channel
- Platelet Vasopressin Receptors in Patients With Congenital Nephrogenic Diabetes Insipidus
- Polyuria and Polydipsia. Problems Associated with Patient Evaluation
- Polyuria in Childhood
- Primary Hyperparathyroidism and Coexisting Nephrogenic Diabetes Insipidus: Rapid Postoperative Correction
- Reconstitution of Mutant V2 Vasopressin Receptors by Adenovirus-mediated Gene Transfer
- Regulation of Collecting Duct Water Channel Expression by Vasopressin in Brattleboro Rat
- Relief of Nocturnal Enuresis by Desmopressin is Kidney and Vasopressin Type 2 Receptor Independent
- Renal Function On and Off Lithium in Patients Treated with Lithium for 15 Years or More. A Controlled, Prospective Lithium-Withdrawal Study
- Renal Histology in a Patient with Nephrogenic Diabetes Insipidus
- Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
- Role of Aquaporin Water Channels in Kidney and Lung
- Rolipram, a Phosphodiesterase Inhibitor, in the Treatment of Two Male Patients with Congenital Nephrogenic Diabetes Insipidus
- Severely Impaired Urinary Concentrating Ability in Transgenic Mice Lacking Aquaporin-1 Water Channels
- 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 Aquaporin Family of Molecular Water Channels
- The Aquaporin Family of Water Channel Proteins in Clinical Medicine
- The Aquaporin Family of Water Channels in Kidney: an Update on Physiology and Pathophysiology of Aquaporin-2
- The Clinical Importance of the Urinary Excretion of Aquaporin-2
- The Management of Diabetes Insipidus in Adults
- The Molecular Basis of Nephrogenic Diabetes Insipidus
- 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
- Two Novel Mutations in the Vasopressin V2 Receptor Gene in Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus
- Two Vasopressin Type 2 Receptor Gene Mutations R143P and Delta V278 in Patients with Nephrogenic Diabetes Insipidus Impair Ligand Binding of the Receptor
- Urinary Arginine Vasopressin (AVP) Measurement in Children: Water Deprivation Test Incorporating Urinary AVP
- Urinary Concentrating Defect in Experimental Hemochromatosis
- Vasopressin Receptors in Health and Disease
- Vasopressin Type-2 Receptor and Aquaporin-2 Water Channel Mutants in Nephrogenic Diabetes Insipidus
- Vasopressin and Oxytocin Receptors
- Water Channels in Health and Disease
- X-linked Nephrogenic Diabetes Insipidus: from the Ship Hopewell to RFLP Studies
Used in 8 Faq answers
Used in 8 Faq answers
- What causes NDI?
- Can a person with NDI ever stop taking drugs for the disorder?
- How can I help other families with NDI?
- How do I know if I am a carrier of the NDI gene? Do I need genetic screening, and if so, how do I get that?
- How is NDI treated?
- How would I know if I carry a defective gene that could result in NDI if passed onto my children?
- Is there any difference in the nature of NDI in a child and NDI in an adult?
- Will NDI ever go away?
Used in 8 Proceeding abstracts
Used in 8 Proceeding abstracts
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- A mouse model for X-linked nephrogenic diabetes insipidus
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- High proportion of ROMK processing defects underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
- Obstructive nephropathy -- a common acquired condition of nephrogenic diabetes insipidus
- Pitfalls in the Differential Diagnosis of Nephrogenic Diabetes Insipidus.
- Supplementation of Receptor Fragments: An approach to Functionally Rescue Mutant V2 Vasopressin Receptors
- The last fifty years; a retrospective on NDI
Used in 3 Proceeding translations
Used in 3 Proceeding translations
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- 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
Used in 44 Term definitions
Used in 44 Term definitions
- Fanconi syndrome
- Fanconi's syndrome
- Turner's syndrome
- acquired cystic disease of kidney
- blindness
- cardiac
- compulsive
- congenital lactose intolerance
- cystic fibrosis
- diabetes insipidus
- diabetes mellitus
- diarrhea
- disaccharidase deficiency
- disrupted
- dystrophy
- eosinophilic granuloma
- etiologies
- etiology
- factor
- genetic disease
- histoplasmosis
- hypophosphatasia
- immunodeficiency
- impediment
- inborn error of metabolism
- liver disease
- lymphoma
- malnutrition
- metal fume fever
- multifactorial disorder
- myelofibrosis
- polycystic disease of the kidneys
- polycythemia vera
- psychosis
- renal biopsy
- renal disorder
- secondary pneumonia
- stupor
- sympathy
- symptomatic
- trait
- treatment
- tyrosinase-negative (ty-neg) oculocutaneous albinism
- von Willebrand's disease



