{"orpha":357008,"name":"Hemolytic uremic syndrome with DGKE deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HUS with DGKE deficiency"],"definition":"A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357008/","orphanet_url":"https://www.orpha.net/en/disease/detail/357008","names":{"fr":{"name":"Syndrome hémolytique et urémique par déficit en DGKE","synonyms":["HUS par déficit en DGKE","SHU par déficit en DGKE"],"definition":"Syndrome hémolytique et urémique (SHU) d'origine génétique rare caractérisé par l'apparition pendant la petite enfance d'épisodes récurrents d'anémie hémolytique microangiopathique, de thrombocytopénie et d'insuffisance rénale aiguë. Les épisodes sont souvent précédés d'infections virales. Les personnes atteintes présentent généralement une hypertension persistante, une hématurie et une protéinurie (parfois de l'ordre du syndrome néphrotique) et développent avec l'âge une maladie rénale chronique."},"de":{"name":"Hämolytisch-urämisches Syndrom mit DGKE-Mangel","synonyms":["HUS mit DGKE-Mangel"],"definition":"Ein genetisch bedingtes hämolytisch-urämisches Syndrom (HUS), das durch im Kindesalter einsetzende, rezidivierende Episoden von mikroangiopathischer hämolytischer Anämie, Thrombozytopenie und akuter Nierenschädigung gekennzeichnet ist. Den Schüben gehen häufig Virusinfektionen voraus. Die Betroffenen weisen typischerweise eine anhaltende Hypertonie, Hämaturie und Proteinurie (manchmal im nephrotischen Bereich) auf und entwickeln mit zunehmendem Alter eine chronische Nierenerkrankung."},"es":{"name":"Síndrome urémico hemolítico con deficiencia de DGKE","synonyms":["SHU con deficiencia de DGKE"],"definition":"Es un síndrome urémico hemolítico (SUH) de origen genético poco frecuente caracterizado por el inicio en el periodo de lactancia de episodios recurrentes de anemia hemolítica microangiopática, trombocitopenia y daño renal agudo. Los episodios suelen estar precedidos por infecciones virales. Los pacientes típicamente presentan hipertensión persistente, hematuria y proteinuria (a veces en rango nefrótico) y desarrollan enfermedad renal crónica con la edad."},"it":{"name":"Sindrome emolitico-uremica atipica con deficit di DGKE","synonyms":["D-HUS con deficit di DGKE","HUS atipica con deficit di DGKE","Sindrome emolitico-uremica senza diarrea con deficit di DGKE","aHUS con deficit di DGKE"]},"nl":{"name":"Hemolytisch-uremisch syndroom met DGKE-deficiëntie","synonyms":["HUS met DGKE-deficiëntie"],"definition":"Een zeldzaam genetisch hemolytisch-uremisch syndroom (HUS), gekenmerkt door infantiele aanvang van recidiverende episodes van microangiopathische hemolytische anemie, trombocytopenie, en acuut nierletsel. De episodes worden vaak voorafgegaan door virale infectie. Getroffen individuen vertonen doorgaans persisterende hypertensie, hematurie en proteïnurie (soms in het nefrotische bereik), en ontwikkelen chronische nierziekte naarmate ze ouder worden."},"pt":{"name":"Síndrome hemolitico-urémico com défice de DGKE","definition":"Síndrome hemolítico-urémica (SHU) genética rara, caracterizada por início na infância de episódios recidivantes de anemia hemolítica microangiopática, trombocitopenia e lesão renal aguda. Os episódios são frequentemente precedidos por infeções víricas. Os indivíduos afetados geralmente apresentam hipertensão persistente, hematúria e proteinúria (às vezes na faixa nefrótica) e desenvolvem doença renal crónica com a idade."},"pl":{"name":"Atypowy zespół hemolityczno-mocznicowy z niedoborem DGKE","synonyms":["aHUS z niedoborem DGKE","Atypowy HUS z niedoborem DGKE","D-HUS z niedoborem DGKE","Zespół hemolityczno-mocznicowy bez biegunki z niedoborem DGKE"],"definition":"Rzadko występujący, genetycznie uwarunkowany zespół hemolityczno-mocznicowy (HUS), charakteryzujący się nawracającymi epizodami mikroangiopatycznej niedokrwistości hemolitycznej, małopłytkowości i ostrego uszkodzenia nerek o początku w okresie niemowlęcym. Epizody są często poprzedzone infekcjami wirusowymi. U osób dotkniętych chorobą zazwyczaj występuje trwałe nadciśnienie tętnicze, krwiomocz i białkomocz (o nasileniu jak w zespole nerczycowym); wraz z wiekiem rozwija się przewlekła choroba nerek."},"cs":{"name":"Atypický hemolyticko-uremický syndrom s deficitem DGKE","synonyms":["Atypický HUS s deficitem DGKE","D- HUS s deficitem DGKE","aHUS s deficitem DGKE","Hemolyticko-uremický syndrom bez průjmu s deficitem DGKE"]},"uk":{"name":"Гемолітико-уремічний синдром з дефіцитом DGKE","synonyms":["HUS з дефіцитом DGKE"],"definition":"A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age."},"zh":{"name":"DGKE基因缺陷性溶血性尿毒综合征","synonyms":["HUS伴DGKE基因缺陷"]},"tr":{"name":"DGKE eksikliği ile seyreden hemolitik üremik sendrom","synonyms":["DGKE eksikliği ile seyreden HUS"]}},"xrefs":[{"source":"OMIM","code":"615008","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018159","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679921","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":576742,"name":"Genetic hemolytic uremic syndrome","classifications":[156,194]},{"orpha":544458,"name":"Hemolytic uremic syndrome","classifications":[188,233]}],"children":[],"genes":[{"symbol":"DGKE","name":"diacylglycerol kinase epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23542698[PMID]_20301541[PMID]","hgnc":"2852","ensembl":"ENSG00000153933","omim":"601440","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"23542698[PMID]_28526779 [PMID]_ 28242109[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28526779 [PMID]"}],"phenotypes":null}