{"Name":"Polycystic kidney disease 4","DiseaseID__c":"GARD:0006168","id":6168,"encodedName":"polycystic-kidney-disease-4","IsDeleted":false,"Disease_Name_Full__c":"Polycystic kidney disease 4","Xref_IDs__c":"C4540575; DOID:0080212; MEDGEN:1621793; MONDO:0033004","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0033004","Disease_Description__c":"A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.","GARD_Name__c":"Polycystic kidney disease 4","GARD_Synonym__c":"pkd4; polycystic kidney and hepatic disease 1; polycystic kidney disease 4 with or without polycystic liver disease; polycystic kidney disease 4, with or without hepatic disease; polycystic kidney disease, infantile, type i","Curated_Disease_Description_Source__c":"GARD:0006168","Curated_Disease_Description__c":"Polycystic kidney disease 4 with or without polycystic liver disease (Congenital hepatic fibrosis) is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated Polycystic kidney disease 4 with or without polycystic liver disease is rare; it usually occurs as part of a syndrome that also affects the kidneys.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:263200","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033004","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Polycystic kidney disease 4 with or without polycystic liver disease (Congenital hepatic fibrosis) is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated Polycystic kidney disease 4 with or without polycystic liver disease is rare; it usually occurs as part of a syndrome that also affects the kidneys.","Curated_Disease_Description_Source__c":"GARD:0006168","GARD_Synonym__c":"pkd4; polycystic kidney and hepatic disease 1; polycystic kidney disease 4 with or without polycystic liver disease; polycystic kidney disease 4, with or without hepatic disease; polycystic kidney disease, infantile, type i","Name":"Polycystic kidney disease 4","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Polycystic Kidney Disease Charity","Website__c":"https://www.pkdcharity.org.uk/"},{"Account_Name__c":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"},{"Account_Name__c":"PKD- Free Alliance","Website__c":"https://www.pkdfree.org/"},{"Account_Name__c":"ARPKD/CHF Alliance","Website__c":"https://www.arpkdchf.org"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0009714"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006168","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1326","Source__c":"Gene Review","Xref__c":"NBK1326"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080212","Source__c":"MONDO:0033004","Xref__c":"DOID:0080212"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1621793","Source__c":"C4540575","Xref__c":"MEDGEN:1621793"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4540575","Source__c":"C4540575","Xref__c":"C4540575"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033004","Source__c":"GARD:0006168","Xref__c":"MONDO:0033004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PKHD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pkhd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{},"synonyms":["pkd4"," polycystic kidney and hepatic disease 1"," polycystic kidney disease 4 with or without polycystic liver disease"," polycystic kidney disease 4, with or without hepatic disease"," polycystic kidney disease, infantile, type i"]}