{"orpha":521438,"name":"Congenital vertebral-cardiac-renal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital NAD deficiency disorder"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521438/","orphanet_url":"https://www.orpha.net/en/disease/detail/521438","names":{"fr":{"name":"Syndrome d'anomalies vertébrales-cardiaques-rénales","synonyms":["Déficit congénital en NAD"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par des défauts de segmentation vertébrale associés à des malformations cardiaques (canal artériel persistant, communication interauriculaire, hypoplasie du coeur gauche) et rénales (hypoplasie des reins, maladie rénale chronique). Parmi les autres signes cliniques rapportés, figurent les malformations des membres, une petite taille, le retard global du développement, une déficience intellectuelle et la perte auditive neurosensorielle."},"de":{"name":"Kongenitales vertebral-kardial-renales Fehlbildungssyndrom","synonyms":["Kongenitale NAD-Mangel-Störung","Kongenitale NAD-Mangelkrankheit"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch Wirbelsäulendefekte in Verbindung mit Herzfehlern (offener Ductus arteriosus, Vorhofseptumdefekt, hypoplastisches linkes Herz) und Nierenfehlern (hypoplastische Nieren, chronische Nierenerkrankung) gekennzeichnet ist. Darüber hinaus werden u.a. Extremitätenfehlbildungen, Kleinwuchs, globale Entwicklungsverzögerung, Intelligenzminderung und Schallempfindungsschwerhörigkeit berichtet."},"es":{"name":"Síndrome congénito de anomalías vertebral-cardiaco-renales","synonyms":["Trastorno congénito de deficiencia de NAD"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por defectos de segmentación vertebral acompañados de anomalías cardíacas (conducto arterioso persistente, comunicación interauricular, corazón izquierdo hipoplásico) y renales (riñones hipoplásicos, enfermedad renal crónica). Otras características adicionales descritas incluyen defectos de las extremidades, talla baja, retraso global del desarrollo, discapacidad intelectual e hipoacusia neurosensorial, entre otras."},"it":{"name":"Sindrome anomalie vertebrali-cardiache-renali congenite","synonyms":["Malattia da deficit congenito di NAD"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da difetti della segmentazione delle vertebre, cardiopatie (dotto arterioso pervio, difetto del setto interatriale, cuore sinistro ipoplasico) e anomalie renali (reni ipoplastici, malattia renale cronica). Altri segni clinici sono i difetti degli arti, la bassa statura, il ritardo dello sviluppo globale, la disabilità intellettiva e la sordità neurosensoriale."},"nl":{"name":"Congenitale vertebrale-cardiale-renale anomalieën-syndroom","synonyms":["Congenitale NAD-deficiëntiestoornis"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door defecten van vertebrale segmentatie, geassocieerd met anomalieën van hart (persisterende ductus arteriosus, atriumseptumdefect, hypoplastisch linkerhart) en van nier (hypoplastische nieren, chronische nierziekte). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer ledemaatdefecten, kleine gestalte, algehele ontwikkelingsachterstand, intellectuele achterstand, en sensorineuraal gehoorverlies."},"pt":{"name":"Síndrome de anomalias congénitas vertebral-cardíaco-renal"},"pl":{"name":"Zespół wrodzonych wad kręgosłupa-serca-nerek","synonyms":["Wrodzony niedobór NAD"]},"cs":{"name":"Syndrom zahrnující vrozené vady páteře, srdce a ledvin","synonyms":["Vrozená porucha deficitu NAD"]},"uk":{"name":"Синдром вроджених хребетно-серцево-ниркових аномалій","synonyms":["Вроджений дефіцит NAD"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others."},"zh":{"name":"先天性脊椎-心脏-肾脏异常综合症","synonyms":["先天性NAD缺乏症"]},"tr":{"name":"Doğumsal vertebral-kardiyak-renal anomaliler sendromu","synonyms":["Doğumsal NAD eksikliği bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"617660","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617661","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618845","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680183","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"HAAO","name":"3-hydroxyanthranilate 3,4-dioxygenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28792876[PMID]","hgnc":"4796","ensembl":"ENSG00000162882","omim":"604521","loci":["2p21"]},{"symbol":"KYNU","name":"kynureninase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28792876[PMID]","hgnc":"6469","ensembl":"ENSG00000115919","omim":"605197","loci":["2q22.2"]},{"symbol":"NADSYN1","name":"NAD synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31883644[PMID]","hgnc":"29832","ensembl":"ENSG00000172890","omim":"608285","loci":["11q13.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28792876[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"28792876[PMID]"}],"phenotypes":null}