{"Name":"Isolated neonatal sclerosing cholangitis","DiseaseID__c":"GARD:0021983","id":21983,"encodedName":"isolated-neonatal-sclerosing-cholangitis","IsDeleted":false,"Disease_Name_Full__c":"Isolated neonatal sclerosing cholangitis","Xref_IDs__c":"C4479344; MEDGEN:1393230; MONDO:0018816; OMIM:617394; ORPHA:480556","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018816","Disease_Description__c":"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.","GARD_Name__c":"Isolated neonatal sclerosing cholangitis","GARD_Synonym__c":"nsc; sclerosing cholangitis, neonatal","Curated_Disease_Description_Source__c":"MONDO:0018816","Curated_Disease_Description__c":"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:480556","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018816","ORPHANET_ID__c":"ORPHA:480556","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colangitis esclerosante neonatal aislada","Spanish_Description_Source__c":"ORPHA:480556","Spanish_Description__c":"Es una enfermedad del tracto biliar, genética y poco frecuente, caracterizada por grave colangiopatía de inicio neonatal con vías biliares patentes y ausencia de lesiones cutáneas ictiosiformes. Los afectados presentan ictericia, heces acólicas, hepatoesplenomegalia y una elevada actividad gamma-glutamiltransferasa en suero. La histología hepática muestra fibrosis portal, proliferación ductular, depósitos de metalotioneína hepatocelular y acúmulos intralobulares de pigmento biliar. Algunos afectados también pueden presentar enfermedad renal.","Spanish_Disease_Name__c":"colangitis esclerosante neonatal aislada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:57146","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":"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.","Curated_Disease_Description_Source__c":"MONDO:0018816","GARD_Synonym__c":"nsc; sclerosing cholangitis, neonatal","Name":"Isolated neonatal sclerosing cholangitis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"PSC Partners Seeking a Cure","Website__c":"https://pscpartners.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:480556"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1393230","Source__c":"C4479344","Xref__c":"MEDGEN:1393230"},{"URL__c":"https://www.omim.org/entry/617394","Source__c":"C4479344; MONDO:0018816; ORPHA:480556","Xref__c":"OMIM:617394"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4479344","Source__c":"C4479344","Xref__c":"C4479344"},{"URL__c":"https://www.orpha.net/en/disease/detail/480556","Source__c":"C4479344; MONDO:0018816","Xref__c":"ORPHA:480556"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018816","Source__c":"GARD:0021983","Xref__c":"MONDO:0018816"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCDC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fibroblast proliferation and fiber expansion from the portal areas to the lobule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006580","HPO_Name__c":"Portal fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hepatic fibrosis that reaches from a portal area to another portal area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012852","HPO_Name__c":"Hepatic bridging fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Proliferative changes of the bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001408","HPO_Synonym__c":"Proliferation of bile canaliculi","HPO_Name__c":"Bile duct proliferation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bile thrombi that form an obstruction (plug) in a dilated bile duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034294","HPO_Name__c":"Ductal bile plugs","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030991","HPO_Synonym__c":"Fibrous cholangitis","HPO_Name__c":"Sclerosing cholangitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clay colored stools lacking bile pigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011985","HPO_Synonym__c":"Acholia; Clay colored stools; Discolored, acholic stools","HPO_Name__c":"Acholic stools","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","Feature__r":{"HPO_Description__c":"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002613","HPO_Name__c":"Biliary cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030948","HPO_Synonym__c":"Elevated serum GGT","HPO_Name__c":"Elevated gamma-glutamyltransferase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617394","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["nsc"," sclerosing cholangitis, neonatal"]}