{"Name":"Congenital enterocyte heparan sulfate deficiency","DiseaseID__c":"GARD:0019839","id":19839,"encodedName":"congenital-enterocyte-heparan-sulfate-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Congenital enterocyte heparan sulfate deficiency","Xref_IDs__c":"725591002; C4511238; MEDGEN:1373054; MONDO:0015171; ORPHA:103910","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015171","Disease_Description__c":"A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.","GARD_Name__c":"Congenital enterocyte heparan sulfate deficiency","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0015171","Curated_Disease_Description__c":"A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.","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:103910","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015171","ORPHANET_ID__c":"ORPHA:103910","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de heparán-sulfato en los enterocitos","Spanish_Description_Source__c":"ORPHA:103910","Spanish_Description__c":"Es una enfermedad intestinal grave, de origen genético y muy poco frecuente, caracterizada por la ausencia congénita de heparán sulfato en el epitelio del intestino delgado que se manifiesta como diarrea secretora y pérdida intestinal masiva de proteínas. Los pacientes presentan intolerancia a la alimentación enteral durante las primeras semanas o meses de vida. Al margen de la ausencia de heparán sulfato de las membranas basolaterales de los enterocitos del intestino delgado, la biopsia de intestino delgado es normal.","Spanish_Disease_Name__c":"deficiencia congénita de heparán-sulfato en los enterocitos","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","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":"A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.","Curated_Disease_Description_Source__c":"MONDO:0015171","Name":"Congenital enterocyte heparan sulfate deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:103910"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:103910"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1373054","Source__c":"C4511238","Xref__c":"MEDGEN:1373054"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511238","Source__c":"C4511238","Xref__c":"C4511238"},{"URL__c":"https://www.orpha.net/en/disease/detail/103910","Source__c":"C4511238; MONDO:0015171; ORPHA:103910","Xref__c":"ORPHA:103910"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725591002","Source__c":"C4511238; MONDO:0015171","Xref__c":"725591002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015171","Source__c":"GARD:0019839","Xref__c":"MONDO:0015171"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Very frequent (80-99%)","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:103910","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002243","HPO_Name__c":"Protein-losing enteropathy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from the normal concentration of a polysaccharide in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011012","HPO_Name__c":"Abnormal circulating polysaccharide concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Very frequent (80-99%)","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:103910","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal level of a circulating protein in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010876","HPO_Synonym__c":"Abnormal circulating protein level; Abnormality of circulating protein level","HPO_Name__c":"Abnormal circulating protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:103910","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":[""]}