{"orpha":401986,"name":"1p31p32 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(p31p32)","Monosomy 1p31p32"],"definition":"1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401986/","orphanet_url":"https://www.orpha.net/en/disease/detail/401986","names":{"fr":{"name":"Syndrome de microdélétion 1p31p32","synonyms":["Del(1)(p31p32)","Monosomie 1p31p32"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion partielle du bras court du chromosome 1. Il se caractérise par un retard de développement, une agénésie/hypoplasie du corps calleux et une dysmorphie craniofaciale, telle qu'une macrocéphalie (causée par une hydrocéphalie ou une ventriculomégalie), des oreilles implantées basses, des narines antéversées et une micrognathie. Des anomalies des voies urinaires (comme un reflux vésico-urétéral, une incontinence urinaire) sont aussi fréquemment associées. Les autres manifestations variables rapportées incluent une hypotonie, une moelle épinière attachée, une malformation de Chiari de type I et des convulsions."},"de":{"name":"Mikrodeletionssyndrom 1p31p32","synonyms":["Del(1)(p31p32)","Monosomie 1p31p32"],"definition":"Das 1p31p32-Mikrodeletionssyndrom ist ein seltenes Chromosomenanomalie-Syndrom, das aus einer partiellen Deletion des kurzen Arms von Chromosom 1 resultiert. Es ist gekennzeichnet durch Entwicklungsverzögerung, Corpus-Callosum-Agenesie/Hypoplasie und kraniofaziale Dysmorphien wie Makrozephalie (verursacht durch Hydrozephalus oder Ventrikulomegalie), tief angesetzte Ohren, antevertierte Nasenlöcher und Mikrognathie. Harnwegsdefekte (z. B. vesikoureteraler Reflux, Harninkontinenz) sind ebenfalls häufig assoziiert. Zu den weiteren berichteten variablen Manifestationen gehören Hypotonie, Tethered Cord, Chiari-Malformation Typ 1 und Krampfanfälle."},"es":{"name":"Síndrome de microdeleción 1p31p32","synonyms":["Del(1)(p31p32)","Monosomía 1p31p32"],"definition":"Es una anomalía cromosómica poco frecuente resultante de la deleción parcial del brazo corto del cromosoma 1. Está caracterizado por retraso en el desarrollo, agenesia / hipoplasia del cuerpo calloso y dismorfia craneofacial, incluyendo macrocefalia (causada por hidrocefalia o ventriculomegalia), orejas de baja implantación, narinas antevertidas y micrognatia. Se asocian con frecuencia defectos del tracto urinario (p. ej., reflujo vesicoureteral, incontinencia urinaria). Otras manifestaciones variables descritas incluyen hipotonía, médula espinal anclada, malformación de Chiari tipo I y convulsiones."},"it":{"name":"Sindrome da microdelezione 1p31p32","synonyms":["Del(1)(p31p32)","Monosomia 1p31p32"],"definition":"La sindrome da microdelezione 1p31p32 è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio corto del cromosoma 1. È caratterizzata da ritardo dello sviluppo, agenesia/ipoplasia del corpo calloso e dismorfismi craniofacciali, che comprendono la macrocefalia (secondaria all'idrocefalo o alla ventricolomegalia), le orecchie a basso impianto, le narici anteverse e la micrognazia. Spesso i pazienti presentano difetti delle vie urinarie (reflusso vescico-ureterale, incontinenza urinaria). Altri segni clinici di gravità variabile sono l'ipotonia, il midollo ancorato, la malformazione di Chiari tipo I e le crisi epilettiche."},"nl":{"name":"1p31p32-microdeletiesyndroom","synonyms":["Del(1)(p31p32)","Monosomie 1p31p32"],"definition":"1p31p32 microdeletiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de korte arm van chromosoom 1, en wordt gekarakteriseerd door ontwikkelingsachterstand, agenesie/hypoplasie van het corpus callosum en craniofaciale dysmorfie, zoals macrocefalie (veroorzaakt door hydrocefalie of ventriculomegalie), laagstaande oren, anteversie van de neusgaten en micrognathie. Defecten van het urinewegstelsel (e.g. vesico-ureterale reflux, urinaire incontinentie) zijn ook frequent geassocieerd. Overige wisselende manifestaties die werden gerapporteerd, zijn onder meer hypotonie, gekluisterd ruggenmerg, Chiari malformatie type I en insulten."},"pt":{"name":"Síndrome de microdeleção 1p31p32"},"pl":{"name":"Zespół mikrodelecji 1p31p32","synonyms":["Del(1)(p31p32)","Monosomia 1p31p32"],"definition":"*Zespół mikrodelecji 1p31p32 jest rzadką aberracją chromosomową, w której dochodzi do częściowej delecji krótkiego ramienia chromosomu 1. Charakteryzuje się opóźnieniem rozwoju, agenezją/hipoplazją ciała modzelowatego i dysmorfią twarzoczaszki, na którą składa się wielkogłowie (wskutek wodogłowia lub poszerzenia komór), nisko osadzone małżowiny uszne, zadarte nozdrza oraz mikrognacja (mała żuchwa). Często występują wady układu moczowego (np. refluks pęcherzowo-moczowodowy, nietrzymanie moczu). Opisywano także obniżenie napięcia mięśniowego, zakotwiczenie rdzenia kręgowego, malformację Chiariego typu I oraz drgawki."},"cs":{"name":"Mikrodeleční syndrom 1p31p32","synonyms":["Del(1)(p31p32)","Monozomie 1p31p32"]},"uk":{"name":"Синдром мікроделеції 1p31p32","synonyms":["Del(1)(p31p32)","Моносомія 1p31p32"],"definition":"1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures."},"zh":{"name":"1p31p32微缺失综合症","synonyms":["1p31p32单体"],"definition":"1p31p32微缺失综合症是一种罕见的染色体异常综合症，是由1号染色体短臂的部分缺失导致的，其主要表现为发育延迟，胼胝体发育不全和颅面畸形，例如巨颅畸形（由脑积水或脑室扩大引起），低位耳朵，鼻孔前倾和小颌畸形。也经常伴有尿路缺陷（例如膀胱输尿管反流，尿失禁）。其他报道的多样的临床表现包括肌张力低下，脊髓栓系，恰里 I型畸形和癫痫发作。"},"tr":{"name":"1p31p32 mikrodelesyon sendromu","synonyms":["Del(1)(p31p32)","Monozomi 1p31p32"]}},"xrefs":[{"source":"OMIM","code":"613735","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NFIA","name":"nuclear factor I A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24462883[PMID]","hgnc":"7784","ensembl":"ENSG00000162599","omim":"600727","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24462883[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24462883[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-04","source":"28941020[PMID]_29240611[PMID]_28926972[PMID]","terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002144","label":"Tethered cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011834","label":"Moyamoya phenomenon","frequency":"Very rare (<4-1%)","criteria":null}]}}