{"Name":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","DiseaseID__c":"GARD:0005237","id":5237,"encodedName":"hypoplastic-pancreas-intestinal-atresia-hypoplastic-gallbladder-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome","Xref_IDs__c":"C2748662; MEDGEN:411637; MONDO:0017400; OMIM:615710; ORPHA:293864","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017400","Disease_Description__c":"A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.","GARD_Name__c":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","GARD_Synonym__c":"diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia; mitchell-riley syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare genetic condition that affects the digestive system. It can be very serious and even life-threatening. It can cause neonatal diabetes, hypoplastic or annular pancreas (pancreas is underdeveloped or has an abnormal shape). It can also cause duodenal and jejunal atresia (parts of the small intestine are blocked or missing), gallbladder aplasia or hypoplasia (gallbladder is missing or underdeveloped), and intestinal malrotation (intestines not in their normal position which can cause problems with digestion and nutrient absorption). This may lead to malnutrition and malabsorption which means the body is not getting or absorbing the nutrients it needs to function. This can cause fetuses to not grow as much as they should in the womb and babies and children to not grow or gain weight. Other symptoms include conjugated hyperbilirubinemia (there is too much bilirubin in the blood, which can cause yellowing of the skin and eyes), acholia (lack of bile in the stool, which can cause pale or clay-colored stools), and infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:293864","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017400","ORPHANET_ID__c":"ORPHA:293864","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia del páncreas-atresia intestinal-hipoplasia de la vesícula biliar","Spanish_Description_Source__c":"ORPHA:293864","Spanish_Description__c":"Es un síndrome de malformación visceral, genético, poco frecuente y potencialmente mortal, caracterizado por diabetes neonatal, páncreas hipoplásico o anular, atresia duodenal y yeyunal, así como aplasia o hipoplasia de la vesícula biliar. Los afectados suelen presentar retraso del crecimiento intrauterino, fallo de medro, malnutrición, malrotación intestinal, malabsorción, hiperbilirrubinemia conjugada, acolia e infecciones. También puede tener asociadas anomalías cardíacas.","Spanish_Disease_Name__c":"síndrome de hipoplasia del páncreas-atresia intestinal-hipoplasia de la vesícula biliar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare genetic condition that affects the digestive system. It can be very serious and even life-threatening. It can cause neonatal diabetes, hypoplastic or annular pancreas (pancreas is underdeveloped or has an abnormal shape). It can also cause duodenal and jejunal atresia (parts of the small intestine are blocked or missing), gallbladder aplasia or hypoplasia (gallbladder is missing or underdeveloped), and intestinal malrotation (intestines not in their normal position which can cause problems with digestion and nutrient absorption). This may lead to malnutrition and malabsorption which means the body is not getting or absorbing the nutrients it needs to function. This can cause fetuses to not grow as much as they should in the womb and babies and children to not grow or gain weight. Other symptoms include conjugated hyperbilirubinemia (there is too much bilirubin in the blood, which can cause yellowing of the skin and eyes), acholia (lack of bile in the stool, which can cause pale or clay-colored stools), and infections.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia; mitchell-riley syndrome","Name":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Center for Monogenic Diabetes at the University of Chicago","Website__c":"https://monogenicdiabetes.uchicago.edu/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293864"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293864"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005237","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748662","Source__c":"C2748662","Xref__c":"C2748662"},{"URL__c":"https://www.orpha.net/en/disease/detail/293864","Source__c":"C2748662; MONDO:0017400","Xref__c":"ORPHA:293864"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411637","Source__c":"C2748662","Xref__c":"MEDGEN:411637"},{"URL__c":"https://www.omim.org/entry/615710","Source__c":"C2748662; MONDO:0017400","Xref__c":"OMIM:615710"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017400","Source__c":"GARD:0005237","Xref__c":"MONDO:0017400"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RFX6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615710","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002594","HPO_Synonym__c":"Hypoplastic pancreas; Underdeveloped pancreas","HPO_Name__c":"Pancreatic hypoplasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","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:615710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anterior malposition of the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001545","HPO_Synonym__c":"Anteriorly displaced anus; Anus anteposition","HPO_Name__c":"Anteriorly placed anus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005235","HPO_Name__c":"Jejunal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","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:615710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Meckel's diverticulum is a congenital diverticulum located in the distal ileum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002245","HPO_Name__c":"Meckel diverticulum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect in which the gallbladder fails to form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011467","HPO_Synonym__c":"Absent gallbladder; Agenesis of the gallbladder; Aplasia of the gallbladder","HPO_Name__c":"Absent gallbladder","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","Feature__r":{"HPO_Description__c":"Atresia of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005912","HPO_Synonym__c":"Atresia of bile ducts; Biliary duct atresia","HPO_Name__c":"Biliary atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","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:615710","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001734","HPO_Name__c":"Annular pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615710","HPO_Frequency__c":"Frequent (30-79%)","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:615710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002247","HPO_Synonym__c":"Absence or narrowing of first part of small bowel","HPO_Name__c":"Duodenal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia"," mitchell-riley syndrome"]}