{"orpha":688581,"name":"Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MFHIEN","Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-688581/","orphanet_url":"https://www.orpha.net/en/disease/detail/688581","names":{"fr":{"name":"Syndrome d'hypoplasie médiofaciale-surdité-elliptocytose-néphrocalcinose"},"de":{"name":"Mittelgesichtshypoplasie-Hörbehinderung- Elliptozytose-Nephrokalzinose-Syndrom","synonyms":["MFHIEN","Syndrom der Mittelgesichtshypoplasie mit Hörverlust, Elliptozytose und Nephrokalzinose"]},"es":{"name":"Síndrome de hipoplasia mediofacial-discapacidad auditiva-eliptocitosis-nefrocalcinosis","synonyms":["Síndrome de hipoplasia mediofacial-hipoacusia-eliptocitosis-nefrocalcinosis"]},"it":{"name":"Sindrome ipoplasia medio-facciale-ipoacusia-ellissocitosi-nefrocalcinosi","synonyms":["MFHIEN","Sindrome ipoplasia medio-facciale-sordità-ellissocitosi-nefrocalcinosi"]},"nl":{"name":"Hypoplasie van middengezicht - gehoorstoornis - elliptocytose - nefrocalcinose-syndroom","synonyms":["Hypoplasie van middengezicht - gehoorverlies - elliptocytose - nefrocalcinose-syndroom","MFHIEN"]},"pt":{"name":"Síndrome de hipoplasia da face média-compromisso auditivo-eliptocitose-nefrocalcinose","synonyms":["MFHIEN","Síndrome de hipoplasia da face média-perda auditiva-eliptocitose-nefrocalcinose"]},"pl":{"name":"Zespół hipoplazji środkowej części twarzy, upośledzenia słuchu, eliptocytozy i wapnicy nerkowej","synonyms":["MFHIEN","Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome"]},"cs":{"name":"Syndrom zahrnující hypoplazii střední částí obličeje, poruchu sluchu, eliptocytózu a nefrokalcinózu","synonyms":["MFHIEN","Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome"]}},"xrefs":[{"source":"OMIM","code":"300990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"10516","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":182043,"name":"Rare constitutional hemolytic anemia","classifications":[156,194]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"AMMECR1","name":"AMMECR nuclear protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27811305[PMID]_28089922[PMID]","hgnc":"467","ensembl":"ENSG00000101935","omim":"300195","loci":["Xq23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"27811305[PMID]_28089922[PMID]_29193635[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27811305[PMID]_28089922[PMID]_29193635[PMID]_ORPHANET"}],"phenotypes":null}