{"Name":"Nephrogenic syndrome of inappropriate antidiuresis","DiseaseID__c":"GARD:0010306","id":10306,"encodedName":"nephrogenic-syndrome-of-inappropriate-antidiuresis","IsDeleted":false,"Disease_Name_Full__c":"Nephrogenic syndrome of inappropriate antidiuresis","Xref_IDs__c":"723440000; C1845202; C564491; DOID:0112121; MEDGEN:336877; MONDO:0010356; OMIM:300539; ORPHA:93606","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010356","Disease_Description__c":"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.","GARD_Name__c":"Nephrogenic syndrome of inappropriate antidiuresis","GARD_Synonym__c":"nephrogenic syndrome of inappropriate antidiuresis, x-linked recessive; nsiad; nsiad - nephrogenic syndrome of inappropriate antidiuresis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Nephrogenic syndrome of inappropriate antidiuresis, also known as Syndrome of inappropriate antidiuretic hormone (SIADH), occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid gland, kidneys, or adrenal glands, and the use of certain medications. Disorders of the lungs and certain cancers may increase the risk of developing Nephrogenic syndrome of inappropriate antidiuresis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93606","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010356","ORPHANET_ID__c":"ORPHA:93606","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome nefrogénico de antidiuresis inapropiada (nsiad)","Spanish_Description_Source__c":"ORPHA:93606","Spanish_Description__c":"El síndrome nefrogénico de antidiuresis inapropiada (NSIAD) es un raro trastorno genético del equilibrio hídrico, muy parecido al síndrome de secreción antidiurética inapropiada (SIADH) que es mucho más frecuente, y se caracteriza por una hiponatremia hipotónica euvolémica debida a un fallo en la excreción de agua libre y niveles bajos o indetectables de hormona antidiurética (ADH) en plasma.","Spanish_Disease_Name__c":"síndrome nefrogénico de antidiuresis inapropiada (nsiad)","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":"Nephrogenic syndrome of inappropriate antidiuresis, also known as Syndrome of inappropriate antidiuretic hormone (SIADH), occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid gland, kidneys, or adrenal glands, and the use of certain medications. Disorders of the lungs and certain cancers may increase the risk of developing Nephrogenic syndrome of inappropriate antidiuresis.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"nephrogenic syndrome of inappropriate antidiuresis, x-linked recessive; nsiad; nsiad - nephrogenic syndrome of inappropriate antidiuresis","Name":"Nephrogenic syndrome of inappropriate antidiuresis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Childhood","Provided_By__c":"ORPHA:93606"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010306","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112121","Source__c":"MONDO:0010356","Xref__c":"DOID:0112121"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845202","Source__c":"C1845202","Xref__c":"C1845202"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564491","Source__c":"MONDO:0010356","Xref__c":"C564491"},{"URL__c":"https://www.omim.org/entry/300539","Source__c":"C1845202; MONDO:0010356; ORPHA:93606","Xref__c":"OMIM:300539"},{"URL__c":"https://www.orpha.net/en/disease/detail/93606","Source__c":"C1845202; MONDO:0010356; ORPHA:93606","Xref__c":"ORPHA:93606"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723440000","Source__c":"C1845202; MONDO:0010356","Xref__c":"723440000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336877","Source__c":"C1845202","Xref__c":"MEDGEN:336877"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010356","Source__c":"GARD:0010306","Xref__c":"MONDO:0010356"}],"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}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of sodium(1+) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012605","HPO_Synonym__c":"Increased urinary sodium","HPO_Name__c":"Hypernatriuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003351","HPO_Synonym__c":"Decreased circulating renin level; Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity","HPO_Name__c":"Decreased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012101","HPO_Synonym__c":"Decreased serum creatinine; Low blood creatinine level; Reduced creatinine levels","HPO_Name__c":"Decreased serum creatinine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally low concentration of urea nitrogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031969","HPO_Synonym__c":"Reduced BUN","HPO_Name__c":"Reduced blood urea nitrogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase in systolic blood pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004421","HPO_Synonym__c":"Elevated systolic BP","HPO_Name__c":"Elevated systolic blood pressure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300539","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["nephrogenic syndrome of inappropriate antidiuresis, x-linked recessive"," nsiad"," nsiad - nephrogenic syndrome of inappropriate antidiuresis"]}