{"orpha":401945,"name":"Moyamoya disease with early-onset achalasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401945/","orphanet_url":"https://www.orpha.net/en/disease/detail/401945","names":{"fr":{"name":"Maladie de Moyamoya avec achalasie précoce","definition":"Maladie neurologique autosomique récessive extrêmement rare qui n'a été rapportée que dans quelques familles jusqu'à présent. Elle se caractérise par l'association d'une achalasie précoce (se manifestant pendant la petite enfance) et d'une angiopathie intracrânienne sévère qui correspond à une angiopathie de Moyamoya dans la plupart des cas (maladie de Moyamoya). Les autres manifestations associées, de manière inconstante, sont hypertension, maladie de Raynaud et livedo reticularis."},"de":{"name":"Moyamoya-Krankheit mit früh-einsetzender Achalasie"},"es":{"name":"Enfermedad de Moyamoya con acalasia de inicio precoz","definition":"Es un trastorno neurológico autosómico recesivo muy poco frecuente descrito hasta la fecha en unas pocas familias. Se caracteriza por la asociación de acalasia de inicio temprano (que se manifiesta en la lactancia) con angiopatía intracraneal grave que es compatible, en la mayoría de los casos, con la angiopatía moyamoya (enfermedad de moyamoya). Otras manifestaciones variables asociadas incluyen hipertensión, fenómeno de Raynaud y livedo reticularis."},"it":{"name":"Malattia di moyamoya con acalasia ad esordio precoce","definition":"La malattia di Moyamoya con acalasia ad esordio precoce è una malattia neurologica molto rara a trasmissione autosomica recessiva, descritta in poche famiglie. È caratterizzata dall'associazione tra acalasia ad esordio precoce (in epoca neonatale) e angiopatia intracranica grave, compatibile, nella maggior parte dei casi, con l'angiopatia di Moyamoya (malattia di Moyamoya; si veda questo termine). Altri segni sono l'ipertensione, il fenomeno di Raynaud e la livedo reticolare."},"nl":{"name":"Moyamoya-ziekte met vroeg optredende achalasie","definition":"Moyamoya-ziekte met vroeg aanvangende achalasie is een uiterst zeldzame, autosomaal recessieve neurologische stoornis die tot op heden in slechts enkele families werd gerapporteerd. Het wordt gekarakteriseerd door de associatie van vroeg aanvangende achalasie (die zich manifesteert in de zuigelingentijd) met ernstige intracraniële angiopathie die in de meeste gevallen consistent is met moyamoya-angiopathie (Moyamoya-ziekte; zie deze term). Overige variabel geassocieerde manifestaties zijn onder meer hypertensie, fenomeen van Raynaud, en livedo reticularis."},"pt":{"name":"Doença de Moyamoya com acalásia de início precoce"},"pl":{"name":"Choroba Moyamoya z achalazją o wczesnym początku"},"cs":{"name":"Nemoc Moya-moya s achalázií s časným nástupem"},"uk":{"name":"Хвороба Моямоя з ранньою ахалазією","definition":"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis."},"zh":{"name":"烟雾病伴早发型贲门失弛缓症","definition":"烟雾病合并早发性贲门弛缓症是一种极为罕见的常染色体隐性神经系统疾病，目前仅有少数几个家庭报道。其特征是早发性贲门失弛缓症（婴儿期表现）合并严重的颅内血管病变。颅内血管病变在大多数情况下与烟雾病血管表型一致。其他多样的相关临床表现包括高血压，雷诺现象和网状青斑。"},"tr":{"name":"Erken başlangıçlı akalazi ile seyreden moyamoya hastalığı"}},"xrefs":[{"source":"OMIM","code":"615750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":165658,"name":"Genetic gastro-esophageal disease","classifications":[156]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"GUCY1A1","name":"guanylate cyclase 1 soluble subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24581742[PMID]","hgnc":"4685","ensembl":"ENSG00000164116","omim":"139396","loci":["4q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"24581742[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24581742[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-25","source":"24581742[PMID]","terms":[{"hpo":"HP:0001297","label":"Stroke","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011834","label":"Moyamoya phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030402","label":"Abnormal platelet aggregation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}