{"orpha":369942,"name":"CADDS","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Contiguous ABCD1 DXS1357E deletion syndrome","Zellweger-like contiguous gene deletion syndrome"],"definition":"CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369942/","orphanet_url":"https://www.orpha.net/en/disease/detail/369942","names":{"fr":{"name":"CADDS","synonyms":["Syndrome de délétion contiguë de ABCD1 DXS1357E","Syndrome de délétion contiguë type Zellweger"],"definition":"Maladie neurométabolique rare d'origine génétique caractérisée par un retard de croissance intra-utérin sévère, un retard de croissance staturo-pondérale, une hypotonie néonatale profonde, un retard de développement global sévère, un taux plasmatique élevé d'acides gras saturés à très longue chaîne et une cholestase néonatale entraînant une insuffisance hépatique et le décès du patient. Les autres manifestations comprennent des anomalies oculaires (cécité et cataracte), une surdité neurosensorielle, des crises convulsives et des anomalies morphologiques du cerveau (notamment un retard de myélinisation du système nerveux central et une ventriculomégalie)."},"de":{"name":"CADDS","synonyms":["ABCD1-DXS1357E-Contiguous gene deletion-Syndrom","Zellweger-ähnliches-Contiguous gene deletion-Syndrom"]},"es":{"name":"CADDS","synonyms":["Síndrome de deleción contigua ABCD1 DXS1357E","Síndrome de deleción de genes contiguos similar a Zellweger"],"definition":"El CADDS es una enfermedad neurometabólica, genética y poco frecuente, caracterizada por un grave retraso del crecimiento intrauterino, fallo de medro, hipotonía neonatal profunda, grave retraso global del desarrollo, niveles plasmáticos elevados de ácidos grasos de cadena muy larga y colestasis neonatal que conduce a insuficiencia hepática y muerte. Otras características asociadas incluyen anomalías oculares (p. ej., ceguera y cataratas), sordera neurosensorial, convulsiones y morfología cerebral anómala (notable retraso de la mielinización del SNC y ventriculomegalia)."},"it":{"name":"CADDS","synonyms":["Sindrome da delezione di geni contigui ABCD1 DXS1357E","Sindrome da delezione di geni contigui, tipo Zellweger"],"definition":"La CADDS è una malattia neurometabolica genetica rara, caratterizzata da grave ritardo della crescita prenatale, ritardo della crescita postnatale, ipotonia neonatale grave, marcato ritardo dello sviluppo globale, livelli elevati di acidi grassi a catena molto lunga nel plasma e colestasi neonatale con conseguente insufficienza epatica e morte. Altri segni clinici sono le anomalie oculari (cecità e cataratta), la sordità neurosensoriale, le crisi epilettiche e le anomalie morfologiche del cervello (in particolare il ritardo della mielinizzazione del SNC e la ventricolomegalia)."},"nl":{"name":"CADDS","synonyms":["ABCD1-DXS1357E-'contiguous gene'-deletiesyndroom","Zellweger-achtig 'contiguous gene'-deletiesyndroom","Zellweger-achtig syndroom met deletie van aangrenzende genen ABCD1 en DXS1357E"],"definition":"CADDS is een zeldzame, genetische, neurometabole ziekte die gekarakteriseerd wordt door ernstige intra-uteriene groeiretardatie, groeiachterstand, zeer ernstige neonatale hypotonie, ernstige algehele ontwikkelingsachterstand, toename van de hoeveelheid lange keten vetzuren in het in plasma, en neonatale cholestase, wat leidt tot leverfalen en overlijden. Andere kenmerken zijn onder meer oculaire afwijkingen (e.g. blindheid en cataract), sensorineuraal gehoorverlies, insulten, en abnormale morfologie van de hersenen (voornamelijk vertraagde CZS-myelinisatie en ventriculomegalie)."},"pt":{"name":"CADDS","synonyms":["Síndrome de deleção contígua ABCD1 DXS1357E","Síndrome de deleção contígua Zellweger-like"]},"pl":{"name":"CADDS","synonyms":["Zespół delecji przyległych ABCD1 DXS1357E","Zespół delecji przyległych genów podobny do zespołu Zellwegera"],"definition":"*CADDS (ang. Contiguous Abcd1 Dxs1375e Deletion Syndrome/Zespół delecji przyległych ABCD1 DXS1357E) jest rzadką, genetycznie uwarunkowaną chorobą neurometaboliczną, która charakteryzuje się ciężkim opóźnieniem wzrastania wewnątrzmacicznego, brakiem prawidłowego rozwoju, głęboką hipotonią noworodków, znacznym całościowym opóźnieniem rozwoju, podwyższonym stężeniem długołańcuchowych kwasów tłuszczowych w surowicy oraz cholestazą noworodków, prowadzącą do niewydolności wątroby i zgonu. Inne objawy obejmują zaburzenia wzroku (np. niedowidzenie i zaćma), niedosłuch czuciowo-nerwowy, drgawki i nieprawidłową budowę mózgu (w szczególności opóźnienie mielinizacji OUN i powiększenie komór)."},"cs":{"name":"CADDS","synonyms":["Zellweger like syndrom sousedící delece","Mikrodeleční syndrom zasahující geny ABCD1 DXS1357E","Syndrom delece sousedního genu podobný jako Zellwegerův syndrom"]},"uk":{"name":"CADDS","synonyms":["Синдром делеції зчепленої ділянки ABCD1 DXS1357E","Синдром делеції зчеплених генів, подібний до синдрому Целлвегера"],"definition":"CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly)."},"zh":{"name":"先天性ABCD1及DXS1357E基因缺失综合征","synonyms":["Zellweger样连续基因缺失综合征"],"definition":"CADDS是一种罕见的遗传性神经代谢疾病，其特征是严重的子宫内生长迟缓，体重增长不良，新生儿极重度肌力低下，严重的全面发育延迟，血浆中超长链脂肪酸升高以及新生儿胆汁淤积会导致肝衰竭和死亡。本病的其他特征包括眼部异常（例如失明和白内障），感音神经性耳聋，癫痫发作和异常的脑形态（特别是中枢神经系统髓鞘化和脑室扩大）。"},"tr":{"name":"CADDS","synonyms":["Bitişik ABCD1 DXS1357E delesyon sendromu","Zellweger-ilişkili bitişik gen delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"300475","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C57.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018247","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3806634","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12472","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":68373,"name":"Peroxisomal disease","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"ABCD1","name":"ATP binding cassette subfamily D member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11992258[PMID]_22994209[PMID]","hgnc":"61","ensembl":"ENSG00000101986","omim":"300371","loci":["Xq28"]},{"symbol":"BCAP31","name":"B cell receptor associated protein 31","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22994209[PMID]","hgnc":"16695","ensembl":"ENSG00000185825","omim":"300398","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"11992258[PMID]_22994209[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-12-23","source":"24597975[PMID]_11992258[PMID]_22994209[PMID]_33603160[PMID]","terms":[{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033643","label":"Increased circulating very long-chain fatty acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}