{"Name":"Autosomal dominant pseudohypoaldosteronism type 1","DiseaseID__c":"GARD:0009145","id":9145,"encodedName":"autosomal-dominant-pseudohypoaldosteronism-type-1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant pseudohypoaldosteronism type 1","Xref_IDs__c":"C126810; C1449842; DOID:0060855; MEDGEN:260623; MONDO:0008329; OMIM:177735; ORPHA:171871","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008329","Disease_Description__c":"A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.","GARD_Name__c":"Autosomal dominant pseudohypoaldosteronism type 1","GARD_Synonym__c":"autosomal dominant pha 1; autosomal dominant pha1; pha i, autosomal dominant; pha1a; pseudohypoaldosteronism type 1, dominant; pseudohypoaldosteronism type i, autosomal dominant; pseudohypoaldosteronism, type i, autosomal dominant; pseudohypoaldosteronism, type i, dominant; renal pha1; renal pseudohypoaldosteronism type 1","Curated_Disease_Description_Source__c":"GARD:0009145","Curated_Disease_Description__c":"Renal pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Symptoms usually begin in the newborn period. Some adults who have renal pseudohypoaldosteronism type 1 may have elevated aldosterone levels, but no history of clinical disease. Renal pseudohypoaldosteronism type 1 exhibits autosomal dominant inheritance with variable expression. It is caused by by genetic changes in the mineralocorticoid receptor gene (NR3C2).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:171871","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008329","ORPHANET_ID__c":"ORPHA:171871","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudohipoaldosteronismo renal tipo 1","Spanish_Description_Source__c":"ORPHA:171871","Spanish_Description__c":"Es una forma de pseudohipoaldosteronismo tipo 1 que se caracteriza por una leve resistencia a mineralocorticoides restringida a los riñones y que suele mejorar en la infancia temprana. La presentación típica se da en el período neonatal con pérdida de peso, retraso del crecimiento, vómitos y deshidratación, junto con hiponatremia, hiperpotasemia y acidosis metabólica, así como niveles elevados de aldosterona y renina.","Spanish_Disease_Name__c":"pseudohipoaldosteronismo renal tipo 1","Spanish_GARD_Synonym__c":"pha1 autosómico dominante; pha1 renal; pseudohipoaldosteronismo autosómico dominante tipo 1","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":"Renal pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Symptoms usually begin in the newborn period. Some adults who have renal pseudohypoaldosteronism type 1 may have elevated aldosterone levels, but no history of clinical disease. Renal pseudohypoaldosteronism type 1 exhibits autosomal dominant inheritance with variable expression. It is caused by by genetic changes in the mineralocorticoid receptor gene (NR3C2).","Curated_Disease_Description_Source__c":"GARD:0009145","GARD_Synonym__c":"autosomal dominant pha 1; autosomal dominant pha1; pha i, autosomal dominant; pha1a; pseudohypoaldosteronism type 1, dominant; pseudohypoaldosteronism type i, autosomal dominant; pseudohypoaldosteronism, type i, autosomal dominant; pseudohypoaldosteronism, type i, dominant; renal pha1; renal pseudohypoaldosteronism type 1","Name":"Autosomal dominant pseudohypoaldosteronism type 1","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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:171871"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:171871"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1449842"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009145","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060855","Source__c":"MONDO:0008329","Xref__c":"DOID:0060855"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126810","Source__c":"MONDO:0008329","Xref__c":"C126810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=260623","Source__c":"C1449842","Xref__c":"MEDGEN:260623"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1449842","Source__c":"C1449842","Xref__c":"C1449842"},{"URL__c":"https://www.orpha.net/en/disease/detail/171871","Source__c":"C1449842; MONDO:0008329; ORPHA:171871","Xref__c":"ORPHA:171871"},{"URL__c":"https://www.omim.org/entry/177735","Source__c":"C1449842; MONDO:0008329; ORPHA:171871","Xref__c":"OMIM:177735"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008329","Source__c":"GARD:0009145","Xref__c":"MONDO:0008329"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NR3C2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr3c2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:177735","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":"OMIM:177735","HPO_Frequency__c":"Frequent (30-79%)","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:177735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:177735","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":"OMIM:177735","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177735","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:177735","Feature__r":{"HPO_Description__c":"An increased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000848","HPO_Synonym__c":"Elevated blood renin level; Elevated plasma renin; Hyperreninemia; Increased circulating renin level; Increased plasma renin; Increased serum renin","HPO_Name__c":"Increased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177735","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"}},{"Provided_By__c":"OMIM:177735","Feature__r":{"HPO_Description__c":"A state of renal tubular unresponsiveness or resistance to the action of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008242","HPO_Name__c":"Pseudohypoaldosteronism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177735","Feature__r":{"HPO_Description__c":"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000859","HPO_Synonym__c":"Elevated plasma aldosterone; Increased aldosterone; Increased aldosterone production; Mineralocorticoid excess","HPO_Name__c":"Increased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177735","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177735","Feature__r":{"HPO_Description__c":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000841","HPO_Name__c":"Hyperactive renin-angiotensin system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177735","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["autosomal dominant pha 1"," autosomal dominant pha1"," pha i, autosomal dominant"," pha1a"," pseudohypoaldosteronism type 1, dominant"," pseudohypoaldosteronism type i, autosomal dominant"," pseudohypoaldosteronism, type i, autosomal dominant"," pseudohypoaldosteronism, type i, dominant"," renal pha1"," renal pseudohypoaldosteronism type 1"]}