{"orpha":1606,"name":"1p36 deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(p36)","Deletion 1p36","Deletion 1pter","Monosomy 1p36","Monosomy 1pter","Subtelomeric 1p36 deletion"],"definition":"A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1606/","orphanet_url":"https://www.orpha.net/en/disease/detail/1606","names":{"fr":{"name":"Syndrome de délétion 1p36","synonyms":["Del(1)(p36)","Délétion 1p36","Délétion 1pter","Délétion subtélomérique 1p36","Monosomie 1p36","Monosomie 1pter"],"definition":"Anomalie chromosomique rare caractérisée par une dysmorphie faciale distinctive, une hypotonie, un retard de développement, une déficience intellectuelle, des crises d'épilepsie, des malformations cardiaques, une absence ou un retard d'acquisition du langage et un retard de croissance prénatal."},"de":{"name":"1p36-Deletionssyndrom","synonyms":["Del(1)(p36)","Deletion 1p36","Deletion 1pter","Monosomie 1p36","Monosomie 1pter","Subtelomere 1p36-Deletion"],"definition":"Eine seltene Chromosomenanomalie, die sich durch ausgeprägte Gesichtsdysmorphien, Hypotonie, Entwicklungsverzögerung, Intelligenzminderung, Krampfanfälle, Herzfehler, Sprachstörungen/fehlende Sprachfähigkeit und pränatalen Wachstumsmangel auszeichnet."},"es":{"name":"Síndrome de deleción 1p36","synonyms":["Del(1)(p36)","Deleción 1p36","Deleción 1pter","Deleción subtelomérica 1p36","Monosomía 1p36","Monosomía 1pter"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por rasgos faciales dismórficos distintivos, hipotonía, retraso del desarrollo, discapacidad intelectual, crisis epilépticas, defectos cardíacos, alteración o ausencia del habla y restricción del crecimiento de inicio prenatal."},"it":{"name":"Sindrome da delezione 1p36","synonyms":["Del(1)(p36)","Delezione 1p36","Delezione 1p36 subtelomerica","Delezione 1pter","Monosomia 1p36","Monosomia 1pter"],"definition":"Si tratta di un'anomalia cromosomica rara, caratterizzata da dismorfismi facciali tipici, ipotonia, ritardo dello sviluppo, disabilità intellettiva, crisi epilettiche, cardiopatie, linguaggio limitato/assente, e ritardo della crescita ad esordio prenatale."},"nl":{"name":"1p36-deletiesyndroom","synonyms":["Del(1)(p36)","Deletie 1p36","Deletie 1pter","Monosomie 1p36","Monosomie 1pter","Subtelomerische 1p36-deletie"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door typische dysmorfe gelaatskenmerken, hypotonie, ontwikkelingsachterstand, intellectuele achterstand, insulten, hartdefecten, ondermaatse/afwezige spraak, en prenataal optredende groeideficiëntie."},"pt":{"name":"Síndrome de deleção 1p36","synonyms":["Monossomia 1p36"],"definition":"Anomalia cromossómica rara caracterizada por características dismórficas faciais distintas, hipotonia, atraso no desenvolvimento, perturbação do desenvolvimento intelectual, convulsões, defeitos cardíacos, fala pobre/ausente e atraso de crescimento pré-natal."},"pl":{"name":"Zespół delecji 1p36","synonyms":["Del(1)(p36)","Delecja 1p36","Delecja 1pter","Delecja subtelomerowa 1p36","Monosomia 1p36","Monosomia 1pter"]},"cs":{"name":"Deleční syndrom 1p36","synonyms":["Del(1)(p36)","Delece 1p36","Delece 1pter","Monozomie 1q36","Monozomie 1pter","Subtelomerická 1p36 delece"]},"uk":{"name":"Синдром делеції 1p36","synonyms":["Del(1)(p36)","Делеція 1p36","Делеція 1pter","Моносомія 1p36","Моносомія 1pter","Делеція субтеломерної ділянки 1p36"],"definition":"A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency."},"zh":{"name":"1p36缺失综合征","synonyms":["亚远端着丝粒1p36缺失"]},"tr":{"name":"1p36 delesyon sendromu","synonyms":["Del (1) (p36)","Delesyon 1p36","Monozomi 1p36","1pter delesyon","Monozomi 1pter","Subtelomerik 1p36 delesyon"]}},"xrefs":[{"source":"OMIM","code":"607872","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616975","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619343","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1248053946"},{"source":"MONDO","code":"0011929","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842870","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","classifications":[147,156]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"CASZ1","name":"castor zinc finger 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24454898[PMID]","hgnc":"26002","ensembl":"ENSG00000130940","omim":"609895","loci":["1p36.22"]},{"symbol":"GABRD","name":"gamma-aminobutyric acid type A receptor subunit delta","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22766398[PMID]","hgnc":"4084","ensembl":"ENSG00000187730","omim":"137163","loci":["1p36.33"]},{"symbol":"HSPG2","name":"heparan sulfate proteoglycan 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26345236[PMID]","hgnc":"5273","ensembl":"ENSG00000142798","omim":"142461","loci":["1p36.12"]},{"symbol":"KCNAB2","name":"potassium voltage-gated channel subfamily A regulatory beta subunit 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22766398[PMID]_17633087[PMID]","hgnc":"6229","ensembl":"ENSG00000069424","omim":"601142","loci":["1p36.31"]},{"symbol":"LUZP1","name":"leucine zipper protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26345236[PMID]","hgnc":"14985","ensembl":"ENSG00000169641","omim":"601422","loci":["1p36.12"]},{"symbol":"MMP23B","name":"matrix metallopeptidase 23B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26345236[PMID]","hgnc":"7171","ensembl":"ENSG00000189409","omim":"603321","loci":["1p36.33"]},{"symbol":"PDPN","name":"podoplanin","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26345236[PMID]","hgnc":"29602","ensembl":"ENSG00000162493","omim":"608863","loci":["1p36.21"]},{"symbol":"PRDM16","name":"PR/SET domain 16","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23768516[PMID]","hgnc":"14000","ensembl":"ENSG00000142611","omim":"605557","loci":["1p36.32"]},{"symbol":"PRKCZ","name":"protein kinase C zeta","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24454898[PMID]","hgnc":"9412","ensembl":"ENSG00000067606","omim":"176982","loci":["1p36.33"]},{"symbol":"RERE","name":"arginine-glutamic acid dipeptide repeats","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27087320[PMID]","hgnc":"9965","ensembl":"ENSG00000142599","omim":"605226","loci":["1p36.23"]},{"symbol":"SKI","name":"SKI proto-oncogene","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22766398[PMID]_12376748[PMID]","hgnc":"10896","ensembl":"ENSG00000157933","omim":"164780","loci":["1p36.33-p36.32"]},{"symbol":"SPEN","name":"spen family transcriptional repressor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26345236[PMID]","hgnc":"17575","ensembl":"ENSG00000065526","omim":"613484","loci":["1p36.21-p36.13"]},{"symbol":"UBE4B","name":"ubiquitination factor E4B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24454898[PMID]","hgnc":"12500","ensembl":"ENSG00000130939","omim":"613565","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"United States","status":"Validated","source":"9326330[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"United States","status":"Validated","source":"9326330[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture 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cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}