{"orpha":50812,"name":"Zellweger-like syndrome without peroxisomal anomalies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ahn-Lerman-Sagie syndrome"],"definition":"A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50812/","orphanet_url":"https://www.orpha.net/en/disease/detail/50812","names":{"fr":{"name":"Syndrome de Zellweger-like sans anomalies peroxysomales","synonyms":["Syndrome d'Ahn-Lerman-Sagie"],"definition":"Maladie mitochondriale rare caractérisée par une dysmorphie faciale évoquant celle observée dans le syndrome de Zellweger, à savoir un front haut et proéminent, des fentes palpébrales inclinées vers le haut, des crêtes supraorbitales hypoplasiques et un épicanthus, ainsi qu'une peau pâle, une hypotonie profonde, un retard de développement et des anomalies métaboliques mineures. Aucune anomalie peroxysomale n'a cependant été rapportée. La transmission serait autosomique récessive."},"de":{"name":"Zellweger-ähnliches Syndrom ohne Anomalien der Peroxisomen","synonyms":["Ahn-Lerman-Sagie-Syndrom"]},"es":{"name":"Síndrome similar a Zellweger sin anomalías peroxisomales","synonyms":["Síndrome de Ahn-Lerman-Sagie","Síndrome de Zellweger-like sin anomalías peroxisomales"],"definition":"Es un trastorno mitocondrial muy poco frecuente caracterizado por dismorfia facial similar a la observada en el síndrome de Zellweger, incluyendo frente alta y prominente, fisuras palpebrales inclinadas hacia arriba, crestas supraorbitales hipoplásicas y pliegues epicánticos, así como piel pálida, hipotonía profunda, retraso psicomotor y trastornos metabólicos leves. Sin embargo, no se han descrito defectos peroxisomales. Se cree que el patrón de transmisión es autosómico recesivo."},"it":{"name":"Sindrome simil-Zellweger senza anomalie perossisomiali","synonyms":["Sindrome di Ahn-Lerman-Sagie"],"definition":"La sindrome simil-Zellweger senza anomalie perossisomiali è una malattia mitocondriale molto rara, caratterizzata da dismorfismi facciali simili a quelli caratteristici della sindrome di Zellweger (si veda questo termine), come la fronte bombata e alta, le rime palpebrali oblique verso l'alto, l'ipoplasia delle arcate sopraorbitali e l'epicanto associati a cute chiara, ipotonia marcata, ritardo dello sviluppo e lievi anomalie metaboliche. Non si osservano difetti perossisomiali. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Zellweger-achtig syndroom zonder peroxisomale anomalieën","synonyms":["Syndroom van Ahn-Lerman-Sagie"],"definition":"Zellweger-achtig syndroom zonder peroxisomale anomalieën is een uiterst zeldzame mitochondriale stoornis die gekarakteriseerd wordt door faciale dysmorfie gelijkaardig aan wat wordt waargenomen bij syndroom van Zellweger (zie deze term), zoals een hoog en boller voorhoofd, opwaarts hellende ooglidspleten, hypoplastische supraorbitale randen, en epicanthusplooien, en daarbovenop een bleke huid, ernstige hypotonie, ontwikkelingsachterstand en kleinere metabole anomalieën. Er werden echter geen peroxisomale defecten gerapporteerd. De transmissie gebeurt vermoedelijk autosomaal recessief."},"pt":{"name":"Síndrome Zellweger-like sem anomalias peroxissomais","synonyms":["Síndrome Ahn-Lerman-Sagie"]},"pl":{"name":"Zespół podobny do zespołu Zellwegera bez zaburzeń peroksysomalnych","synonyms":["Zespół Ahna, Lermana i Sagie'a"]},"cs":{"name":"Zellweger-like syndrom bez peroxizomálních anomálií","synonyms":["Ahnův-Lerman-Sagieové syndrom","Ahn-Lerman-Sagieové syndrom"]},"uk":{"name":"Синдром Целлвегера без пероксисомних аномалій","synonyms":["Синдром Ан-Лермана-Сагі"],"definition":"A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive."},"zh":{"name":"类Zellweger综合征伴过氧化物酶体异常","synonyms":["Ahn-Lerman-Sagie综合症"]},"tr":{"name":"Peroksizomal anomalileri olmayan Zellweger benzeri sendrom","synonyms":["Ahn-Lerman-Sagie sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"697302760"},{"source":"MONDO","code":"0018861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305104","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Mitochondrial inheritance"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"12784304[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12784304[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12784304[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}