{"Name":"Nephrogenic diabetes insipidus","DiseaseID__c":"GARD:0007178","id":7178,"encodedName":"nephrogenic-diabetes-insipidus","IsDeleted":false,"Disease_Name_Full__c":"Nephrogenic diabetes insipidus","Xref_IDs__c":"111395007; C0162283; C84919; D018500; DOID:12387; HP:0009806; MEDGEN:57876; MONDO:0016383; N25.1; ORPHA:223","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016383","Disease_Description__c":"A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.","GARD_Name__c":"Nephrogenic diabetes insipidus","GARD_Synonym__c":"arginine vasopressin resistance; avp-r - arginine vasopressin resistance; ndi - nephrogenic diabetes insipidus; vasopressin resistance","Curated_Disease_Description_Source__c":"GARD:0007178","Curated_Disease_Description__c":"Arginine vasopressin resistance (previously called nephrogenic diabetes insipidus) is a disorder of water balance. The body normally balances fluid intake by releasing excess fluid in urine. However, people with arginine vasopressin resistance produce an excessive amount of urine (polyuria), which depletes the amount of water in the body. This water loss also leads to excessive thirst (polydipsia).  Affected individuals can quickly become dehydrated if they do not drink enough water. Dehydration can cause dizziness and fatigue. Prolonged dehydration can lead to confusion, low blood pressure, seizures, and coma. People with arginine vasopressin resistance often develop high levels of sodium in the blood (hypernatremia) due to dehydration. Repeated cycles of dehydration can cause long-term health problems, particularly in children.  Arginine vasopressin resistance can be either acquired or familial. The acquired form can occur at any time during life. The familial form usually become apparent within the first year of life, though in some cases they develop in adolescence or early adulthood. Infants with familial arginine vasopressin resistance tend to have problems feeding and gaining weight (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan. Researchers have recommended using the condition name arginine vasopressin resistance because the previous name, nephrogenic diabetes insipidus, was often confused with a much more common disorder called diabetes mellitus. Arginine vasopressin resistance and diabetes mellitus are separate disorders with different features, causes, and treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:223","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016383","ORPHANET_ID__c":"ORPHA:223","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Resistencia a la arginina vasopresina","Spanish_Description_Source__c":"ORPHA:223","Spanish_Description__c":"Es una enfermedad tubular renal genética minoritaria, se caracteriza por poliuria con polidipsia, episodios recurrentes de fiebre, estreñimiento y deshidratación hipernatrémica aguda después del nacimiento que puede ocasionar secuelas neurológicas.","Spanish_Disease_Name__c":"resistencia a la arginina vasopresina","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93626","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Arginine vasopressin resistance (previously called nephrogenic diabetes insipidus) is a disorder of water balance. The body normally balances fluid intake by releasing excess fluid in urine. However, people with arginine vasopressin resistance produce an excessive amount of urine (polyuria), which depletes the amount of water in the body. This water loss also leads to excessive thirst (polydipsia).  Affected individuals can quickly become dehydrated if they do not drink enough water. Dehydration can cause dizziness and fatigue. Prolonged dehydration can lead to confusion, low blood pressure, seizures, and coma. People with arginine vasopressin resistance often develop high levels of sodium in the blood (hypernatremia) due to dehydration. Repeated cycles of dehydration can cause long-term health problems, particularly in children.  Arginine vasopressin resistance can be either acquired or familial. The acquired form can occur at any time during life. The familial form usually become apparent within the first year of life, though in some cases they develop in adolescence or early adulthood. Infants with familial arginine vasopressin resistance tend to have problems feeding and gaining weight (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan. Researchers have recommended using the condition name arginine vasopressin resistance because the previous name, nephrogenic diabetes insipidus, was often confused with a much more common disorder called diabetes mellitus. Arginine vasopressin resistance and diabetes mellitus are separate disorders with different features, causes, and treatment.","Curated_Disease_Description_Source__c":"GARD:0007178","GARD_Synonym__c":"arginine vasopressin resistance; avp-r - arginine vasopressin resistance; ndi - nephrogenic diabetes insipidus; vasopressin resistance","Name":"Nephrogenic diabetes insipidus","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Histiocytosis Association","Website__c":"https://www.histio.org/"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"Nephrogenic Diabetes Insipidus Foundation","Website__c":"https://ndif.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:223"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:223"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162283"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007178","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1177","Source__c":"Gene Review","Xref__c":"NBK1177"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12387","Source__c":"MONDO:0016383","Xref__c":"DOID:12387"},{"URL__c":"https://www.orpha.net/en/disease/detail/223","Source__c":"C0162283; MONDO:0016383; ORPHA:223","Xref__c":"ORPHA:223"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162283","Source__c":"C0162283","Xref__c":"C0162283"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111395007","Source__c":"C0162283; MONDO:0016383","Xref__c":"111395007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57876","Source__c":"C0162283","Xref__c":"MEDGEN:57876"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018500","Source__c":"C0162283; MONDO:0016383","Xref__c":"D018500"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84919","Source__c":"C0162283; MONDO:0016383","Xref__c":"C84919"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/N25.1","Source__c":"MONDO:0016383","Xref__c":"N25.1"},{"URL__c":"https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance","Source__c":"GARD:0007178","Xref__c":"https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016383","Source__c":"GARD:0007178","Xref__c":"MONDO:0016383"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009806","Source__c":"C0162283","Xref__c":"HP:0009806"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AVPR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/avpr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AQP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aqp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003158","HPO_Synonym__c":"Reduced urinary osmolality","HPO_Name__c":"Hyposthenuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011106","HPO_Synonym__c":"Depleted blood volume","HPO_Name__c":"Hypovolemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Enuresis occurring during sleeping hours.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010677","HPO_Synonym__c":"Nocturnal enuresis","HPO_Name__c":"Enuresis nocturna","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distention of the ureter with urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000072","HPO_Synonym__c":"Dilated ureter; Megaureter; Swelling of ureter; Ureteral dilatation; Wide ureter","HPO_Name__c":"Hydroureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004906","HPO_Name__c":"Hypernatremic dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003228","HPO_Synonym__c":"High blood sodium levels","HPO_Name__c":"Hypernatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysfunction of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000009","HPO_Synonym__c":"Poor bladder function","HPO_Name__c":"Functional abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009806","HPO_Name__c":"Nephrogenic diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:223","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["arginine vasopressin resistance"," avp-r - arginine vasopressin resistance"," ndi - nephrogenic diabetes insipidus"," vasopressin resistance"],"spanishId":13188,"spanishName":"diabetes-insipida-nefrogenica"}