{"orpha":103910,"name":"Congenital enterocyte heparan sulfate deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-103910/","orphanet_url":"https://www.orpha.net/en/disease/detail/103910","names":{"fr":{"name":"Déficit congénital en héparane sulfate de l'entérocyte","definition":"Maladie intestinale rare, sévère, d'origine génétique, caractérisée par une absence congénitale d'héparane sulfate dans l'épithélium de l'intestin grêle, se manifestant par une diarrhée sécrétoire et une perte massive de protéines entériques. Les patients sont intolérants à l'alimentation entérale pendant les premières semaines ou les premiers mois de vie. Hormis l'absence d'héparane sulfate à la surface basolatérale des entérocytes de l'intestin grêle, la biopsie de l'intestin grêle est par ailleurs normale."},"de":{"name":"Enterozyten-Heparansulfat-Mangel, kongenitaler","definition":"Eine seltene, schwere, genetisch bedingte Darmerkrankung, die durch ein angeborenes Fehlen von Heparansulfat im Dünndarmepithel gekennzeichnet ist und sich durch sekretorische Diarrhöe und massiven Proteinverlust im Darm äußert. Die Patienten zeigen eine Intoleranz gegenüber enteraler Nahrung während der ersten Lebenswochen bis -monate. Histochemisch wurde ein vollständiger Mangel des Heparansulfats in der basolateralen Oberfläche der Dünndarm-Enterozyten nachgewiesen, ansonsten zeigt die Dünndarmbiopsie keine Auffälligkeiten."},"es":{"name":"Deficiencia congénita de heparán-sulfato en los enterocitos","definition":"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."},"it":{"name":"Deficit congenito di eparansolfato negli enterociti","definition":"Si tratta di una malattia intestinale genetica rara grave, caratterizzata dall'assenza congenita di eparan solfato nell'epitelio dell'intestino tenue, che esordisce con diarrea secretoria e massiccia perdita enterica di proteine. I pazienti presentano intolleranza all'alimentazione enterale nelle prime due settimane e nei primi mesi di vita. A parte l'assenza di eparan solfato sulla superficie basolaterale degli enterociti dell'intestino tenue, la biopsia dell'intestino tenue non evidenzia altre anomalie."},"nl":{"name":"Congenitale enterocyt-heparansulfaatdeficiëntie","definition":"Een zeldzame, ernstige, genetische darmziekte die gekarakteriseerd wordt door congenitale afwezigheid van heparansulfaat in het epitheel van de dunne darm, en die zich manifesteert met secretoire diarree en massaal eiwitverlies via de darm. Patiënten vertonen intolerantie voor enterale voeding tijdens de eerste levensweken tot -maanden. Behalve de afwezigheid van heparansulfaat in het basolaterale deel van enterocyten van de dunne darm is biopsie voor het overige normaal."},"pt":{"name":"Deficiência de sulfato de heparano do enterócito congénita","definition":"A deficiência congénita de heparan sulfato no enterócito é caracterizada por uma massiva perda proteica entérica e intolerância à alimentação enteral durante as primeiras semanas de vida."},"pl":{"name":"Wrodzony Niedobór siarczanu heparanu enterocytów"},"cs":{"name":"Vrozený deficit heparan sulfátu v enterocytu"},"uk":{"name":"Вроджений дефіцит гепарансульфату ентероцитів","definition":"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."},"zh":{"name":"先天性肠细胞硫酸乙酰肝素缺乏症","definition":"先天性肠细胞硫酸乙酰肝素缺乏症是一种罕见的、严重的、遗传性的肠道疾病，以小肠上皮先天性缺乏硫酸肝素为特征，表现为分泌性腹泻和大量肠道蛋白丢失。患者在生命的最初几周到几个月出现肠内喂养不耐受。小肠小肠上皮细胞基底外侧表面缺乏硫酸肝素，小肠活检正常。"},"tr":{"name":"Doğumsal enterosit heparan sülfat eksikliği"}},"xrefs":[{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"506034123"},{"source":"MONDO","code":"0015171","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511238","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104007,"name":"Congenital enteropathy involving intestinal mucosa development","classifications":[152,156,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8622507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8622507[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-03","source":"8622507[PMID]","terms":[{"hpo":"HP:0011012","label":"Abnormality of polysaccharide metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010876","label":"Abnormal circulating protein level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Frequent (79-30%)","criteria":null}]}}