{"orpha":85191,"name":"Singleton-Merten dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Singleton-Merten syndrome"],"definition":"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85191/","orphanet_url":"https://www.orpha.net/en/disease/detail/85191","names":{"fr":{"name":"Dysplasie de Singleton-Merten","synonyms":["Syndrome de Singleton-Merten"],"definition":"La dysplasie de Singleton-Merten est caractérisée par une dysplasie dentaire, une calcification progressive de l'aorte thoracique avec sténose, une ostéoporose et une expansion des cavités médullaires des os de la main. Les autres manifestations incluent une atrophie et une faiblesse musculaire généralisée, et des éruptions cutanées chroniques de type psoriasique. Elle a été décrite chez quatre patients non apparentés (hommes et femmes) ainsi que dans une famille comprenant plusieurs hommes atteints."},"de":{"name":"Singleton-Merten-Dysplasie","synonyms":["Singleton-Merten-Syndrom"],"definition":"Die Singleton-Merten-Dysplasie ist gekennzeichnet durch dysplastische Zähne, fortschreitende Verkalkung der thorakalen Aorta, kalzifizierte Aortenstenose, Osteoporose und Ausweitung der Markhöhlen in den Handknochen."},"es":{"name":"Displasia de Singleton-Merten","synonyms":["Síndrome de Singleton-Merten"],"definition":"Es un trastorno caracterizado por displasia dental, calcificación progresiva de la aorta torácica con estenosis, osteoporosis y expansión de las cavidades medulares de los huesos de la mano. Otras características adicionales asociadas incluyeron debilidad y atrofia muscular generalizada y erupciones cutáneas psoriasiformes crónicas. Se ha descrito en cuatro pacientes no emparentados (hombres y mujeres) y en una familia con varios miembros afectos (hombres)."},"it":{"name":"Displasia di Singleton-Merten","synonyms":["Sindrome di Singleton-Merten"]},"nl":{"name":"Dysplasie, Singleton-Merten-type","synonyms":["Syndroom van Singleton-Merten"],"definition":"Dysplasie, Singleton-Merten-type wordt gekenmerkt door dentale dysplasie, progressieve calcificatie van aorta thoracica met stenose, osteoporose en expansie van beenmergholtes in botten van hand. Bijkomende kenmerken zijn onder meer gegeneraliseerde spierzwakte en -atrofie, en chronische psoriasiforme huiderupties. Het werd gerapporteerd bij vier niet-verwante patiënten (mannelijk en vrouwelijk) en bij een familie met meerdere getroffen leden (mannelijk)."},"pt":{"name":"Displasia de Singleton-Merten"},"pl":{"name":"Dysplazja Singletona i Mertena","synonyms":["Zespół Singletona i Mertena"]},"cs":{"name":"Singletonova-Mertenova dysplázie","synonyms":["Singletonův-Mertenův syndrom","Singleton-Mertenova dysplázie","Singleton-Mertenův syndrom"]},"uk":{"name":"Дисплазія Синглтона-Мертена","synonyms":["Синдром Сінглтона-Мертена"],"definition":"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)."},"zh":{"name":"Singleton-Merten发育不良","synonyms":["Singleton-Merten综合征"]},"tr":{"name":"Singleton-Merten displazisi","synonyms":["Singleton-Merten sendromu"]}},"xrefs":[{"source":"OMIM","code":"182250","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616298","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1084593684"},{"source":"MONDO","code":"0008429","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432254","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"122","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"IFIH1","name":"interferon induced with helicase C domain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25620204[PMID]","hgnc":"18873","ensembl":"ENSG00000115267","omim":"606951","loci":["2q24.2"]},{"symbol":"RIGI","name":"RNA sensor RIG-I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25620203[PMID]","hgnc":"19102","ensembl":"ENSG00000107201","omim":"609631","loci":["9p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"23322711[PMID]_25620203[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23322711[PMID]_25620203[PMID]"}],"phenotypes":null}