ANDI
MCID: DBT091
MIFTS: 67
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Diabetes Insipidus, Nephrogenic, Autosomal (ANDI)
Categories:
Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, Autosomal:
Characteristics:Orphanet epidemiological data:59
nephrogenic diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
genetic heterogeneity (see ) onset in first weeks of life both autosomal dominant and autosomal recessive inheritance have been reported HPO:32
diabetes insipidus, nephrogenic, autosomal:
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance Onset and clinical course neonatal onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Neuronal diseases Endocrine diseases
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. The most common symptoms are frequent urination (polyuria), especially during nighttime (nocturia), and drinking too much liquids (polydipsia). It can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. About 90% of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene, and about 10% of cases are caused by mutations in the AQP2 gene. Treatment consists of plenty of water intake; medication, such as thiazide diuretics and NSAIDs; and a low-salt, low-protein diet.
MalaCards based summary : Diabetes Insipidus, Nephrogenic, Autosomal, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus, nephrogenic, x-linked and diabetes insipidus, neurohypophyseal. An important gene associated with Diabetes Insipidus, Nephrogenic, Autosomal is AQP2 (Aquaporin 2), and among its related pathways/superpathways are Vasopressin-regulated water reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include kidney, bone and brain, and related phenotypes are seizures and failure to thrive Disease Ontology : 12 An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). Genetics Home Reference : 25 Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick. OMIM : 57 Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked recessive form, type I (304800), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; 300538). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001). Neurogenic, or central, diabetes insipidus (CDI; 125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13. (125800) UniProtKB/Swiss-Prot : 75 Diabetes insipidus, nephrogenic, autosomal: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. Wikipedia : 76 Nephrogenic diabetes insipidus (also known as renal diabetes insipidus) is a form of diabetes insipidus... more...
GeneReviews:
NBK1177
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:125800Human phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:59 32 (show all 29)
MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:46
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Cochrane evidence based reviews: diabetes insipidus, nephrogenic |
MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic, Autosomal:41
Kidney,
Bone,
Brain,
Lung,
Prostate,
Spinal Cord,
T Cells
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Articles related to Diabetes Insipidus, Nephrogenic, Autosomal:(show top 50) (show all 676)
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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Insipidus, Nephrogenic, Autosomal:75 (show all 28)
ClinVar genetic disease variations for Diabetes Insipidus, Nephrogenic, Autosomal:6 (show top 50) (show all 232)
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Search
GEO
for disease gene expression data for Diabetes Insipidus, Nephrogenic, Autosomal.
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Pathways related to Diabetes Insipidus, Nephrogenic, Autosomal according to KEGG:37
Pathways related to Diabetes Insipidus, Nephrogenic, Autosomal according to GeneCards Suite gene sharing:
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Cellular components related to Diabetes Insipidus, Nephrogenic, Autosomal according to GeneCards Suite gene sharing:
Biological processes related to Diabetes Insipidus, Nephrogenic, Autosomal according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Diabetes Insipidus, Nephrogenic, Autosomal according to GeneCards Suite gene sharing:
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