{"Name":"Hereditary arginine vasopressin deficiency","DiseaseID__c":"GARD:0016629","id":16629,"encodedName":"hereditary-arginine-vasopressin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Neurohypophyseal diabetes insipidus","Xref_IDs__c":"45369008; C0342394; C84933; DOID:12388; MEDGEN:574999; MONDO:0007450; ORPHA:30925","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007450","Disease_Description__c":"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.","GARD_Name__c":"Hereditary arginine vasopressin deficiency","GARD_Synonym__c":"adh deficiency; antidiuretic hormone deficiency; avp deficiency; diabetes insipidus of pituitary gland; diabetes insipidus, neurogenic; diabetes insipidus, primary central; familial arginine vasopressin deficiency; familial avp-d (arginine vasopressin deficiency); familial central diabetes insipidus; familial vasopressin deficiency; hereditary cdi; hereditary central diabetes insipidus; hereditary neurogenic diabetes insipidus; Neurohypophyseal diabetes insipidus; pituitary gland diabetes insipidus; vasopressin defective diabetes insipidus","Curated_Disease_Description_Source__c":"MONDO:0007450","Curated_Disease_Description__c":"Arginine vasopressin deficiency is a disorder of water balance. The body normally balances fluid intake by releasing fluid in urine. However, people with arginine vasopressin deficiency 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).\r\n\r\nPeople with arginine vasopressin deficiency 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 this condition 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. \r\n\r\nArginine vasopressin deficiency can be either acquired or familial. The acquired form occurs when the brain is damaged due to head injuries, brain tumors, or other events, and this form can occur at any time during life. The familial form is caused by genetic changes; its signs and symptoms usually become apparent in childhood and worsen over time.\r\n\r\nResearchers have recommended using the condition name arginine vasopressin deficiency because the previous name, neurohypophyseal diabetes insipidus, was often confused with a much more common disorder called diabetes mellitus. Arginine vasopressin deficiency and diabetes mellitus are separate disorders with different features, causes, and treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:30925","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007450","ORPHANET_ID__c":"ORPHA:30925","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de arginina vasopresina hereditaria","Spanish_Description_Source__c":"ORPHA:30925","Spanish_Description__c":"La diabetes insípida central hereditaria es un subtipo genético poco frecuente de diabetes insípida central (DIC, ver término) caracterizada por poliuria y polidipsia debido a un déficit de síntesis de vasopresina (AVP).","Spanish_Disease_Name__c":"deficiencia de arginina vasopresina hereditaria","Spanish_GARD_Synonym__c":"diabetes insipida central hereditaria; diabetes insípida neurogénica hereditaria; dic hereditaria","Category_Linearization__c":"ORPHA:97978","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 deficiency is a disorder of water balance. The body normally balances fluid intake by releasing fluid in urine. However, people with arginine vasopressin deficiency 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).\r\n\r\nPeople with arginine vasopressin deficiency 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 this condition 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. \r\n\r\nArginine vasopressin deficiency can be either acquired or familial. The acquired form occurs when the brain is damaged due to head injuries, brain tumors, or other events, and this form can occur at any time during life. The familial form is caused by genetic changes; its signs and symptoms usually become apparent in childhood and worsen over time.\r\n\r\nResearchers have recommended using the condition name arginine vasopressin deficiency because the previous name, neurohypophyseal diabetes insipidus, was often confused with a much more common disorder called diabetes mellitus. Arginine vasopressin deficiency and diabetes mellitus are separate disorders with different features, causes, and treatment.","Curated_Disease_Description_Source__c":"MONDO:0007450","GARD_Synonym__c":"adh deficiency; antidiuretic hormone deficiency; avp deficiency; diabetes insipidus of pituitary gland; diabetes insipidus, neurogenic; diabetes insipidus, primary central; familial arginine vasopressin deficiency; familial avp-d (arginine vasopressin deficiency); familial central diabetes insipidus; familial vasopressin deficiency; hereditary cdi; hereditary central diabetes insipidus; hereditary neurogenic diabetes insipidus; Neurohypophyseal diabetes insipidus; pituitary gland diabetes insipidus; vasopressin defective diabetes insipidus","Name":"Neurohypophyseal diabetes insipidus","estimateUsa":""}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:30925"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/30925","Source__c":"C0342394; MONDO:0007450","Xref__c":"ORPHA:30925"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342394","Source__c":"C0342394","Xref__c":"C0342394"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=574999","Source__c":"C0342394","Xref__c":"MEDGEN:574999"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12388","Source__c":"MONDO:0007450","Xref__c":"DOID:12388"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84933","Source__c":"MONDO:0007450","Xref__c":"C84933"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=45369008","Source__c":"MONDO:0007450","Xref__c":"45369008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237696003","Source__c":"C0342394","Xref__c":"237696003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007450","Source__c":"GARD:0016629","Xref__c":"MONDO:0007450"},{"URL__c":"https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AVP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/avp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant","Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:30925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30925","HPO_Frequency__c":"Frequent (30-79%)","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:30925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30925","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:30925","HPO_Frequency__c":"Very frequent (80-99%)","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:30925","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":"ORPHA:30925","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30925","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["adh deficiency"," antidiuretic hormone deficiency"," avp deficiency"," diabetes insipidus of pituitary gland"," diabetes insipidus, neurogenic"," diabetes insipidus, primary central"," familial arginine vasopressin deficiency"," familial avp-d (arginine vasopressin deficiency)"," familial central diabetes insipidus"," familial vasopressin deficiency"," hereditary cdi"," hereditary central diabetes insipidus"," hereditary neurogenic diabetes insipidus"," Neurohypophyseal diabetes insipidus"," pituitary gland diabetes insipidus"," vasopressin defective diabetes insipidus"]}