{"orpha":84064,"name":"Trichohepatoenteric syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Phenotypic diarrhea","SD/THE","Syndromic diarrhea","Syndromic diarrhea/Tricho-hepato-enteric syndrome","Tricho-hepato-enteric syndrome"],"definition":"A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-84064/","orphanet_url":"https://www.orpha.net/en/disease/detail/84064","names":{"fr":{"name":"Syndrome tricho-hépato-entérique","synonyms":["Diarrhée phénotypique","Diarrhée syndromique"],"definition":"Maladie gastroentérologique rare se manifestant au cours du premier mois de vie par une diarrhée réfractaire et un retard de croissance staturo-pondérale, associée à une dysmorphie faciale, des anomalies des cheveux et, dans certains cas, des troubles immunitaires et un retard de croissance intra-utérin."},"de":{"name":"Trichohepatoenterisches Syndrom","synonyms":["Phänotypische Diarrhoe","SD/THE","Syndromale Diarrhoe/Tricho-hepato-enterisches Syndrom","Syndromale Diarrhöe","THE-S"],"definition":"Eine seltene gastroenterologische Erkrankung, die sich als hartnäckige Diarrhöe im ersten Lebensmonat mit Gedeihstörung manifestiert und mit Gesichtsdysmorphien, Haaranomalien und in einigen Fällen mit Immunstörungen und intrauteriner Wachstumsrestriktion einhergeht."},"es":{"name":"Síndrome tricohepatoentérico","synonyms":["Diarrea fenotípica","Diarrea sindrómica","Diarrea sindrómica/síndrome trico-hepato-entérico","SD/THE","Síndrome trico-hepato-entérico"],"definition":"Es una enfermedad gastroenterológica muy poco frecuente que se manifiesta como diarrea intratable en el primer mes de vida, con fallo de medro y asociada a dismorfia facial, anomalías capilares y, en algunos casos, trastornos inmunológicos y retraso del crecimiento intrauterino."},"it":{"name":"Sindrome tricoepatoenterica","synonyms":["Diarrea fenotipica","SD/THE","Sindrome trico-epato-enterica","Sindrome trico-epato-enterica/diarrea sindromica","Diarrea sindromica"],"definition":"La diarrea sindromica (SD) è una malattia gastroenterologica rara, che si manifesta con diarrea intrattabile nel primo mese di vita, associata a ritardo della crescita, dismorfismi facciali, anomalie dei capelli e, in alcuni pazienti, anomalie del sistema immunitario e ritardo della crescita prenatale."},"nl":{"name":"Trichohepato-enteraal syndroom","synonyms":["Fenotypische diarree","SD/THE","Syndromale diarree","Syndromale diarree/Tricho-hepato-enteraal syndroom","Syndromale diarree/Tricho-hepato-enterisch syndroom","Tricho-hepato-enteraal syndroom","Tricho-hepato-enterisch syndroom","Trichohepato-enterisch syndroom"],"definition":"Een zeldzame gastro-enterologische ziekte die zich manifesteert als refractaire diarree in de eerste levensmaanden met groeifalen, en die geassocieerd is met faciale dysmorfie, haaranomalieën, en, in sommige gevallen, immuunstoornissen en intra-uteriene groeiretardatie."},"pt":{"name":"Síndrome tricohepatoentérico","synonyms":["Diarreia sindromática/Síndrome tricohepatoentérico","Síndrome trico-hepato-entérico","Diarreia sindromática","SD/THE"]},"pl":{"name":"Zespół włosowo-wątrobowo-jelitowy","synonyms":["SD/THE","Biegunka syndromiczna/zespół włosowo-wątrobowo-jelitowy"]},"cs":{"name":"Syndromický průjem","synonyms":["SD/THE","Syndromická diarea/Trichohepatoenterický syndrom","Trichohepatoenterický syndrom","Průjem s abnormálním fenotypem"]},"uk":{"name":"Синдромна діарея","synonyms":["Фенотипова діарея","SD/THE","Синдромна діарея/трихо-гепато-ентеральний синдром","Трихогепатоентеральний синдром","Трихо-гепато-ентеральний синдром"],"definition":"A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction."},"zh":{"name":"综合征性腹泻","synonyms":["腹泻综合征/毛发-肝-肠综合征"]},"tr":{"name":"Sendromik ishal","synonyms":["SD / THE","Fenotipik diyare","Trikohepatoenterik sendrom","Triko-hepato-enterik sendrom","Sendromik diyare/Triko-hepato-enterik sendrom"]}},"xrefs":[{"source":"OMIM","code":"222470","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614602","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1470910753"},{"source":"MONDO","code":"0009105","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857276","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5258","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":717865,"name":"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"SKIC2","name":"SKI2 subunit of superkiller complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22444670[PMID]_23302111[PMID]","hgnc":"10898","ensembl":"ENSG00000204351","omim":"600478","loci":["6p21.33"]},{"symbol":"SKIC3","name":"SKI3 subunit of superkiller complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23302111[PMID]_20176027[PMID]","hgnc":"23639","ensembl":"ENSG00000198677","omim":"614589","loci":["5q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":116.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_29527791[PMID]_29868001[PMID]_30397475[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]_30397475[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"France","status":"Validated","source":"23302111[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-29","source":"23302111[PMID]_29334452[PMID]_20176027[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002041","label":"Intractable diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025156","label":"Dependency on intravenous nutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003139","label":"Panhypogammaglobulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030056","label":"Uncombable hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011877","label":"Increased mean platelet volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}