{"orpha":692173,"name":"Marbach-Schaaf neurodevelopmental syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Global developmental delay-hypotonia-high pain tolerance syndrome","MASNS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-692173/","orphanet_url":"https://www.orpha.net/en/disease/detail/692173","names":{"fr":{"name":"Syndrome neurodéveloppemental de Marbach-Schaaf","synonyms":["MASNS","Syndrome de retard global du développement-hypotonie-tolérance élevée à la douleur","Syndrome du neuro-développement de Marbach-Schaaf"]},"de":{"name":"Marbach-Schaaf-Syndrom","synonyms":["MASNS","PRKAR1B-assoziierte neurologische Entwicklungsstörung","Syndrom der globale Entwicklungsverzögerung mit Hypotonie und hoher Schmerztoleranz"]},"es":{"name":"Síndrome de Marbach-Schaaf del neurodesarrollo","synonyms":["MASNS","Síndrome de retraso global del desarrollo-hipotonía-alta tolerancia al dolor"]},"it":{"name":"Malattia del neurosviluppo di Marbach-Schaaf","synonyms":["Sindrome ritardo dello sviluppo globale-ipotonia-elevata tolleranza al dolore","MASNS"]},"nl":{"name":"Neurologisch ontwikkelingssyndroom van Marbach-Schaaf","synonyms":["Algehele ontwikkelingsachterstand - hypotonie - hoge pijntolerantie-syndroom","MASNS"]},"pt":{"name":"Síndrome Marbach-Schaaf do neurodesenvolvimento","synonyms":["MASNS","Síndrome de atraso global do desenvolvimento-hipotonia-elevada tolerância à dor"]},"pl":{"name":"Zespół neurorozwojowy Marbacha-Schaafa","synonyms":["Global developmental delay-hypotonia-high pain tolerance syndrome","MASNS"]},"cs":{"name":"Marbach-Schaafův neurovývojový syndrom","synonyms":["Marbachův-Schaafův neurovývojový syndrom"]}},"xrefs":[{"source":"OMIM","code":"619680","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRKAR1B","name":"protein kinase cAMP-dependent type I regulatory subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33833410[PMID]","hgnc":"9390","ensembl":"ENSG00000188191","omim":"176911","loci":["7p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"33833410[PMID]_35789103[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33833410[PMID]_35789103[PMID]_ORPHANET"}],"phenotypes":null}