{"orpha":697160,"name":"Infantile epileptic spasms syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IESS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697160/","orphanet_url":"https://www.orpha.net/en/disease/detail/697160","names":{"fr":{"name":"Syndrome des spasmes infantiles","synonyms":["SSI"]},"de":{"name":"Infantile Spasmen","synonyms":["BNS-Epilepsie","Blitz-Nick-Salaam Epilepsie","Blitz-Nick-Salaam-Krämpfe","IESS"]},"es":{"name":"Síndrome de crisis epilépticas infantiles","synonyms":["IESS"]},"it":{"name":"Sindrome da spasmi epilettici infantili","synonyms":["IESS"]},"nl":{"name":"Infantiele epileptische spasmen-syndroom","synonyms":["IESS"]},"pt":{"name":"Infantile epileptic spasms syndrome"},"pl":{"name":"Infantile epileptic spasms syndrome","synonyms":["IESS"]},"cs":{"name":"Infantile epileptic spasms syndrome","synonyms":["IESS"]}},"xrefs":[{"source":"OMIM","code":"300672","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"308350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613477","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613722","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616139","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616341","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617065","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617929","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618298","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A62.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1023597213"}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3451,"name":"West syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GRIN2B","name":"glutamate ionotropic receptor NMDA type subunit 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24272827[PMID]","hgnc":"4586","ensembl":"ENSG00000273079","omim":"138252","loci":["12p13.1"]},{"symbol":"ARX","name":"aristaless related homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20506206[PMID]_22787626[PMID]","hgnc":"18060","ensembl":"ENSG00000004848","omim":"300382","loci":["Xp21.3"]},{"symbol":"CDKL5","name":"cyclin dependent kinase like 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18564362[PMID]_22196487[PMID]_22787626[PMID]","hgnc":"11411","ensembl":"ENSG00000008086","omim":"300203","loci":["Xp22.13"]},{"symbol":"CNPY3","name":"canopy FGF signaling regulator 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29394991[PMID]","hgnc":"11968","ensembl":"ENSG00000137161","omim":"610774","loci":["6p21.1"]},{"symbol":"GUF1","name":"GTP binding elongation factor GUF1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26486472[PMID]","hgnc":"25799","ensembl":"ENSG00000151806","omim":"617064","loci":["4p12"]},{"symbol":"NTRK2","name":"neurotrophic receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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in","status":"Assessed","source":"22196487[PMID]_18065176[PMID]","hgnc":"11273","ensembl":"ENSG00000197694","omim":"182810","loci":["9q34.11"]},{"symbol":"WDR45","name":"WD repeat domain 45","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27030146[PMID]","hgnc":"28912","ensembl":"ENSG00000196998","omim":"300526","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-04","source":"28846304[PMID]","terms":[{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null}]}}