{"orpha":247262,"name":"Hyperphosphatasia-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mabry syndrome"],"definition":"A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247262/","orphanet_url":"https://www.orpha.net/en/disease/detail/247262","names":{"fr":{"name":"Syndrome d'hyperphosphatasie-déficience intellectuelle","synonyms":["Syndrome de Mabry"],"definition":"Maladie osseuse rare liée à une anomalie congénitale de la glycosylation, caractérisée par une hypotonie, un retard de développement sévère, une déficience intellectuelle, des convulsions, un taux sérique élevé de phosphatases alcalines, des phalanges distales courtes avec une hypoplasie des ongles, et une dysmorphie faciale. Une fente palatine, un mégacôlon, des malformations anorectales et des malformations cardiaques congénitales ont été rapportés dans certains cas."},"de":{"name":"Hyperphosphatasie-Intelligenzminderung-Syndrom","synonyms":["Mabry-Syndrom"],"definition":"Eine seltene angeborene Glykosylierungsstörung (CDG), die durch Hypotonie, schwere Entwicklungsverzögerung, Intelligenzminderung, Krampfanfälle, erhöhte alkalische Phosphatase im Serum, kurze distale Phalangen mit hypoplastischen Nägeln und dysmorphe Gesichtszüge gekennzeichnet ist. In einigen Fällen wurde über Gaumenspalten, Megakolon, anorektale Fehlbildungen und angeborene Herzfehler berichtet."},"es":{"name":"Síndrome de hiperfosfatasia-discapacidad intelectual","synonyms":["Síndrome de Mabry"],"definition":"Síndrome de hiperfosfatasia con discapacidad intelectual. Es un trastorno óseo congénito y poco frecuente relacionado con la glucosilación caracterizado por hipotonía, grave retraso del desarrollo, discapacidad intelectual, convulsiones, incremento de la fosfatasa alcalina sérica, falanges distales cortas con hipoplasia ungueal y rasgos faciales dismórficos. En algunos casos, se ha descrito paladar hendido, megacolon, malformaciones anorrectales y defectos cardíacos congénitos."},"it":{"name":"Sindrome da iperfosfatasia e disabilità intellettia","synonyms":["HPMR","Sindrome di Mabry"],"definition":"È una malattia scheletrica congenita rara correlata a un disturbo della glicosilazione, caratterizzata da ipotonia, grave ritardo dello sviluppo, disabilità intellettiva, crisi epilettiche, aumento dei livelli di fosfatasi alcalina nel siero, accorciamento delle falangi distali con unghie ipoplastiche, e dismorfismi facciali. Può associarsi a palatoschisi, megacolon, malformazioni anorettali e cardiopatie congenite."},"nl":{"name":"Hyperfosfatasie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Mabry"],"definition":"Een zeldzame botstoornis gerelateerd aan een congenitale glycosylatiestoornis en gekarakteriseerd door hypotonie, ernstige ontwikkelingsachterstand, intellectuele achterstand, insulten, toename van alkalische fosfatase in het serum, korte distale falangen met hypoplastische nagels, en dysmorfe gelaatskenmerken. In sommige gevallen werden gespleten verhemelte, megacolon, anorectale malformaties, en congenitale hartdefecten gerapporteerd."},"pt":{"name":"Síndrome de hiperfosfatemia-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Mabry"]},"pl":{"name":"Zespół hipofosfatazji-niepełnosprawności intelektualnej","synonyms":["HPMR","Zespół Mabry'ego"]},"cs":{"name":"Syndrom zahrnující hyperfosfatázii a mentální retardaci","synonyms":["HPMR","Mabryho syndrom"]},"uk":{"name":"Синдром гіперфосфатазії-інтелектуальної недостатності","synonyms":["Синдром Мабрі"],"definition":"A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported."},"zh":{"name":"高磷酸酯酶智力残疾综合征","synonyms":["马布里综合症"],"definition":"一种罕见的先天性糖基化相关的骨疾病，其特征是肌张力低下、严重发育迟缓、智力残疾、癫痫发作、血清碱性磷酸酶升高、末节指骨短伴指甲发育不全，面部畸形。也有报道部分病例表现出腭裂、巨结肠、肛肠畸形和先天性心脏病。"},"tr":{"name":"Hiperfosfatazi-zihinsel yetersizlik sendromu","synonyms":["Mabry sendromu"]}},"xrefs":[{"source":"OMIM","code":"239300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614207","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614749","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615716","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616025","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616809","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016596","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565495","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855923","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"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":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PGAP3","name":"post-GPI attachment to proteins phospholipase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24439110[PMID]","hgnc":"23719","ensembl":"ENSG00000161395","omim":"611801","loci":["17q12"]},{"symbol":"PIGY","name":"phosphatidylinositol glycan anchor biosynthesis class Y","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26293662[PMID]","hgnc":"28213","ensembl":"ENSG00000255072","omim":"610662","loci":["4q22.1"]},{"symbol":"PGAP2","name":"post-GPI attachment to proteins 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23561847[PMID]_23561846[PMID]","hgnc":"17893","ensembl":"ENSG00000148985","omim":"615187","loci":["11p15.4"]},{"symbol":"PIGL","name":"phosphatidylinositol glycan anchor biosynthesis class L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25706356[PMID]","hgnc":"8966","ensembl":"ENSG00000108474","omim":"605947","loci":["17p11.2"]},{"symbol":"PIGO","name":"phosphatidylinositol glycan anchor biosynthesis class O","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22683086[PMID]","hgnc":"23215","ensembl":"ENSG00000165282","omim":"614730","loci":["9p13.3"]},{"symbol":"PIGV","name":"phosphatidylinositol glycan anchor biosynthesis class V","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24129430[PMID]","hgnc":"26031","ensembl":"ENSG00000060642","omim":"610274","loci":["1p36.11"]},{"symbol":"PIGW","name":"phosphatidylinositol glycan anchor biosynthesis class W","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24367057[PMID]","hgnc":"23213","ensembl":"ENSG00000277161","omim":"610275","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2019-10-02","source":"22315194[PMID]_20578257[PMID]_3346785[PMID]","terms":[{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006118","label":"Shortening of all distal phalanges of the fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002696","label":"Abnormal parietal bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040195","label":"Decreased head circumference","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000594","label":"Shallow anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}