{"orpha":86818,"name":"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AMME syndrome","ATS-MR","AMME complex"],"definition":"A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including <i>COL4A5</i>, <i>FACL4</i> and <i>AMMECR1</i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86818/","orphanet_url":"https://www.orpha.net/en/disease/detail/86818","names":{"fr":{"name":"Syndrome d'Alport-déficience intellectuelle-hypoplasie du visage-elliptocytose","synonyms":["ATS-MR","Complexe AMME","Syndrome AMME"],"definition":"Le syndrome d'Alport-déficience intellectuelle-hypoplasie du visage-elliptocytose est caractérisé par l'association d'un syndrome d'Alport, d'une hypoplasie médio-faciale, d'un déficit intellectuel et d'une elliptocytose. Il a été décrit dans deux familles. La transmission de ce syndrome est liée à l'X. Il est causé par une délétion de gènes contigus en Xq22.3 impliquant plusieurs gènes, <i>COL4A5</i>, <i>FACL4</i> et <i>AMMECR1</i>."},"de":{"name":"Alport-Syndrom-Intelligenzminderung-Mittelgesichtshypoplasie-Elliptozytose-Syndrom","synonyms":["AMME-Komplex","AMME-Syndrom","ATS-MR"],"definition":"Dieses Syndrom ist gekennzeichnet durch das gemeinsame Auftreten von Alport-Syndrom, Mittelgesichtshypoplasie, Intelligenzminderung und Elliptozytose."},"es":{"name":"Síndrome de Alport-discapacidad intelectual-hipoplasia medio facial-eliptocitosis","synonyms":["ATS-MR","Complejo AMME","Síndrome AMME"],"definition":"Es una anemia hemolítica constitucional poco frecuente caracterizada por la asociación del síndrome de Alport, hipoplasia mediofacial, discapacidad intelectual y eliptocitosis. Se ha descrito en dos familias. El síndrome se transmite como un rasgo ligado al cromosoma X causado por una deleción contigua de genes en Xq22.3 que implica a varios genes, incluyendo a <i>COL4A5</i>, <i>FACL4</i> y <i>AMMECR1</i>."},"it":{"name":"Sindrome di Alport-disabilità intellettiva-ipoplasia mediofacciale-ellissocitosi","synonyms":["ATS-MR","Complesso AMME","Sindrome AMME"]},"nl":{"name":"Syndroom van Alport - intellectuele achterstand - hypoplasie van middengezicht - elliptocytose-syndroom","synonyms":["AMME-complex","AMME-syndroom","ATS-MR"],"definition":"Een zeldzame, constitutionele hemolytische anemie, gekarakteriseerd door de associatie van syndroom van Alport, hypoplasie van het middengezicht, intellectuele achterstand e,n elliptocytose. Het werd beschreven bij twee families. Het syndroom wordt overgedragen als een X-gebonden eigenschap, en wordt veroorzaakt door een deletie van aangrenzende genen in Xq22.3 waarbij verschillende genen betrokken zijn, waaronder <i>COL4A5</i>, <i>FACL4</i> en <i>AMMECR1</i>."},"pt":{"name":"Síndrome Alport-perturbação do desenvolvimento intelectual-hipoplasia do terço médio da face-eliptocitose","synonyms":["ATS-MR","Complexo AMME","Síndrome AMME"]},"pl":{"name":"Zespół Alporta - niepełnosprawność intelektualna - hipoplazja środkowej części twarzy - eliptocytoza","synonyms":["ATS-MR","Kompleks AMME","Zespół AMME"]},"cs":{"name":"Alportův syndrom s mentální retardací, hypoplázií střední části obličeje a eliptocytózou","synonyms":["AMME komplex","AMME syndrom","ATS-MR"]},"uk":{"name":"Синдром Альпорта-інтелектуальна недостатність-гіпоплазія середини обличчя-еліптоцитоз","synonyms":["Комплекс AMME","Синдром AMME","ATS-MR"],"definition":"A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including <i>COL4A5</i>, <i>FACL4</i> and <i>AMMECR1</i>."},"zh":{"name":"Alport综合征-智力障碍-面中部发育不全-椭圆形红细胞增多症综合征","synonyms":["AMME综合征"]},"tr":{"name":"Alport sendromu-zihinsel yetersizlik-orta yüz hipoplazisi-elliptositoz sendromu","synonyms":["ATS-MR","AMME kompleksi","AMME sendromu"]}},"xrefs":[{"source":"OMIM","code":"300194","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300990","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564570","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":263756,"name":"Partial deletion of the long arm of chromosome X syndrome","classifications":[147,156]},{"orpha":182043,"name":"Rare constitutional hemolytic anemia","classifications":[156,194]},{"orpha":567554,"name":"Systemic disease with glomerulopathy as a major feature","classifications":[188,233]}],"children":[],"genes":[{"symbol":"ACSL4","name":"acyl-CoA synthetase long chain family member 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11889465[PMID]_9598718[PMID]","hgnc":"3571","ensembl":"ENSG00000068366","omim":"300157","loci":["Xq23"]},{"symbol":"AMMECR1","name":"AMMECR nuclear protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"10049589[PMID]_27811305[PMID]","hgnc":"467","ensembl":"ENSG00000101935","omim":"300195","loci":["Xq23"]},{"symbol":"KCNE5","name":"potassium voltage-gated channel subfamily E regulatory subunit 5","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"12011158[PMID]","hgnc":"6241","ensembl":"ENSG00000176076","omim":"300328","loci":["Xq23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7923864[PMID]_9598718[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004445","label":"Elliptocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null}]}}