{"orpha":51608,"name":"Generalized arterial calcification of infancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic infantile arterial calcification","Idiopathic obliterative arteriopathy","Infantile arteriosclerosis","Occlusive infantile arteriopathy"],"definition":"A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51608/","orphanet_url":"https://www.orpha.net/en/disease/detail/51608","names":{"fr":{"name":"Calcification artérielle généralisée infantile","synonyms":["Artériopathie oblitérante idiopathique","Artériopathie occlusive infantile","Artériosclérose infantile","Calcification artérielle idiopathique infantile"],"definition":"Maladie vasculaire génétique rare caractérisée par l'apparition précoce (dès la phase in utero jusqu'à la petite enfance) d'une calcification étendue et d'une sténose des artères de moyen et de gros calibre. Elle se manifeste typiquement par la détresse respiratoire, l'insuffisance cardiaque congestive et l'hypertension systémique."},"de":{"name":"Arterienkalzifikation, generalisierte infantile","synonyms":["Arterienkalzifikation, idiopathische infantile","Arteriopathie, idiopathische obliterative","Arteriopathie, infantile okklusive","Arteriosklerose, infantile"],"definition":"Eine seltene genetisch bedingte Gefäßerkrankung, die durch ein frühes Auftreten (<i>in utero</i> bis zum Säuglingsalter) von ausgedehnten Verkalkungen und Verengungen der großen und mittelgroßen Arterien gekennzeichnet ist. Sie äußert sich typischerweise durch Atemnot, kongestives Herzversagen und systemischen Bluthochdruck."},"es":{"name":"Calcificación arterial generalizada del lactante","synonyms":["Arteriopatía obliterante idiopática","Arteriopatía oclusiva del lactante","Arteriosclerosis del lactante","Calcificación arterial del lactante idiopática"],"definition":"Es una enfermedad vascular genética y poco frecuente caracterizada por un inicio temprano (entre el periodo prenatal y la lactancia) de calcificación generalizada y estenosis de las arterias grandes y medianas. Se presenta, típicamente, con distrés respiratorio, insuficiencia cardíaca congestiva e hipertensión sistémica."},"it":{"name":"Calcificazione arteriosa generalizzata dell'infanzia","synonyms":["Arteriopatia infantile idiopatica","Arteriopatia obliterante idiopatica","Arteriosclerosi infantile","Calcificazione arteriosa infantile idiopatica"],"definition":"La calcificazione arteriosa generalizzata dell'infanzia è una malattia vascolare genetica rara ad esordio precoce (in epoca prenatale o neonatale), caratterizzata da calcificazione estesa e stenosi delle arterie di medie e grandi dimensioni. Il quadro clinico comprende il distress respiratorio, l'insufficienza cardiaca congestizia e l'ipertensione sistemica."},"nl":{"name":"Gegeneraliseerde arteriële calcificatie in de kinderjaren","synonyms":["Idiopathische infantiele arteriële calcificatie","Idiopathische obliteratieve arteriopathie","Infantiele arteriosclerose","Occlusieve infantiele arteriopathie"],"definition":"Een zeldzame, genetische vasculaire ziekte die gekarakteriseerd wordt door vroege aanvang (tussen de periode in utero en de zuigelingentijd) van omvangrijke verkalking en stenose van de grote en middelgrote slagaders. De presentatie is kenmerkend met ademnood, congestief hartfalen en systemische hypertensie."},"pt":{"name":"Calcificação arterial generalizada da infância"},"pl":{"name":"Uogólnione zwapnienie ścian tętnic niemowląt","synonyms":["Idiopatyczna arteriopatia zarostowa","Idiopatyczne zwapnienie ścian tętnic niemowląt","Zarostowa arteriopatia niemowląt"]},"cs":{"name":"Generalizovaná arteriální kalcifikace u kojenců","synonyms":["Idiopatická kojenecká arteriální kalcifikace","Idiopatická obliterativní arteriopatie","Kojenecká arterioskleróza","Okluzivní kojenecká arteriopatie"]},"uk":{"name":"Генералізована кальцифікація артерій у дітей раннього віку","synonyms":["Ідіопатична дитяча артеріальна кальцифікація","Ідіопатична облітеруюча артеріопатія","Інфантильний артеріосклероз","Оклюзійна дитяча артеріопатія"],"definition":"A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension."},"zh":{"name":"婴儿全身性动脉钙化","synonyms":["特发性婴儿动脉钙化"]},"tr":{"name":"Süt çocuğunda jeneralize arteriyel kalsifikasyonu","synonyms":["İnfantil arteriyoskleroz","Oklüzif infantil arteriyopati","İdiyopatik obliteratif arteriyopati","İdiyopatik infantil arteriyel kalsifikasyon"]}},"xrefs":[{"source":"OMIM","code":"208000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614473","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q28.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"BD52","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"934461548"},{"source":"MONDO","code":"0018870","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18870","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859727","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8380","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156,198]}],"children":[],"genes":[{"symbol":"ENPP1","name":"ectonucleotide pyrophosphatase/phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25392903[PMID]","hgnc":"3356","ensembl":"ENSG00000197594","omim":"173335","loci":["6q23.2"]},{"symbol":"ABCC6","name":"ATP binding cassette subfamily C member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25392903[PMID]_22209248[PMID]","hgnc":"57","ensembl":"ENSG00000091262","omim":"603234","loci":["16p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_25392903[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-20","source":"25392903[PMID]","terms":[{"hpo":"HP:0003207","label":"Arterial calcification","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004963","label":"Calcification of the aorta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004940","label":"Generalized arterial calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006559","label":"Hepatic calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001717","label":"Coronary artery calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025116","label":"Fetal distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025169","label":"Left ventricular systolic dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004966","label":"Medial calcification of large arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012457","label":"Medial calcification of medium-sized arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012408","label":"Medullary nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025477","label":"Periarticular calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009164","label":"Abnormal calcification of the carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000630","label":"Abnormal retinal artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012409","label":"Cortical nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010639","label":"Elevated alkaline phosphatase of bone origin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200067","label":"Recurrent spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000381","label":"Stapes ankylosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003941","label":"Stippled calcification of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003836","label":"Stippled calcification of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032553","label":"Weak pulse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001102","label":"Angioid streaks of the fundus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005103","label":"Calcification of the auricular cartilage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040197","label":"Encephalomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006690","label":"Myocardial calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Very rare (<4-1%)","criteria":null}]}}