{"orpha":163693,"name":"2p21 microdeletion syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["2p21 deletion syndrome","Del(2)(p21)","Monosomy 2p21"],"definition":"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163693/","orphanet_url":"https://www.orpha.net/en/disease/detail/163693","names":{"fr":{"name":"Syndrome de microdélétion 2p21","synonyms":["Del(2)(p21)","Monosomie 2p21","Syndrome de délétion 2p21"],"definition":"Le syndrome de microdélétion 2p21 est caractérisé par une cystinurie, des convulsions néonatales, une hypotonie, un sévère retard du développement et de la croissance, une dysmorphie faciale et une acidémie lactique."},"de":{"name":"Mikrodeletionssyndrom 2p21","synonyms":["Del(2)(p21)","Deletion 2p21","Monosomie 2p21"],"definition":"Das 2p21-Mikrodeletion-Syndrom ist gekennzeichnet durch Cystinurie, Neugeborenenkrämpfe, Muskelhypotonie, schwere Wachstums- und Entwicklungsverzögerung, faziale Dysmorphien und Laktazidämie."},"es":{"name":"Síndrome de microdeleción 2p21","synonyms":["Del(2)(p21)","Monosomía 2p21","Síndrome de deleción 2p21"],"definition":"El síndrome de microdeleción 2p21 consiste en cistinuria, convulsiones neonatales, hipotonía, retraso severo del crecimiento y en el desarrollo, dismorfia facial y acidemia láctica."},"it":{"name":"Sindrome da microdelezione 2p21","synonyms":["Del(2)(p21)","Monosomia 2p21","Sindrome da delezione 2p21"],"definition":"La sindrome da microdelezione 2p21 è caratterizzata da cistinuria, convulsioni neonatali, ipotonia, grave ritardo dello sviluppo e della crescita, dismorfismi facciali e acidemia lattica."},"nl":{"name":"2p21-microdeletiesyndroom","synonyms":["2p21-deletiesyndroom","Del(2)(p21)","Monosomie 2p21"],"definition":"Een syndroom, gekenmerkt door cystinurie, neonatale insulten, hypotonie, ernstige groei- en ontwikkelingsachterstand, faciale dysmorfie, en lactaatacidemie."},"pt":{"name":"Síndrome de microdeleção 2p21","definition":"O síndrome da microdeleção 2p21 consiste em cistinúria, convulsões neonatais, hipotonia, atraso grave de desenvolvimento, dismorfismo facial, e acidemia láctica. Foi descrito em sete doentes de três famílias de um pequeno clã beduíno."},"pl":{"name":"Zespół mikrodelecji 2p21","synonyms":["Del(2)(p21)","Monosomia 2p21","Zespół delecji 2p21"]},"cs":{"name":"Mikrodeleční syndrom 2p21","synonyms":["Del(2)(p21)","Monozomie 2p21","2p21 deleční syndrom"]},"uk":{"name":"Синдром мікроделеції 2р21","synonyms":["Синдром делеції 2р21","Del(2)(p21)","Моносомія 2p21"],"definition":"The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia."},"zh":{"name":"2p21 微缺失综合征","synonyms":["2p21缺失综合征"]},"tr":{"name":"2p21 mikrodelesyon sendromu","synonyms":["Del (2) (p21)","Monozomi 2p21","2p21 delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"606407","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1956669459"},{"source":"MONDO","code":"0015583","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304537","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":238517,"name":"Hypotonia-cystinuria type 1 syndrome","classifications":[147,150,156,188,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CAMKMT","name":"calmodulin-lysine N-methyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11524703[PMID]","hgnc":"26276","ensembl":"ENSG00000143919","omim":"609559","loci":["2p21"]},{"symbol":"PPM1B","name":"protein phosphatase, Mg2+/Mn2+ dependent 1B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11524703[PMID]","hgnc":"9276","ensembl":"ENSG00000138032","omim":"603770","loci":["2p21"]},{"symbol":"PREPL","name":"prolyl endopeptidase like","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11524703[PMID]","hgnc":"30228","ensembl":"ENSG00000138078","omim":"609557","loci":["2p21"]},{"symbol":"SLC3A1","name":"solute carrier family 3 member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11524703[PMID]","hgnc":"11025","ensembl":"ENSG00000138079","omim":"104614","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"11524703[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11524703[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003131","label":"Cystinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","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:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200125","label":"Mitochondrial respiratory chain defects","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null}]}}