{"orpha":619972,"name":"CADINS disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CARD11-associated atopy with dominant interference of NF-kB signaling syndrome"],"definition":"A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-619972/","orphanet_url":"https://www.orpha.net/en/disease/detail/619972","names":{"fr":{"name":"Maladie CADINS","synonyms":["Syndrome d'atopie avec interférence dominante sur la voie de signalisation NF-kB associé à CARD11"],"definition":"Syndrome hyper-IgE rare caractérisé par l'apparition précoce d'une dermatite atopique sévère et d'infections récurrentes de sévérité variable, dont molluscum contagiosum, pneumonie, abcès, bactériémie ou syndrome de Kaposi-Juliusberg, entre autres. Parmi les autres manifestations rapportées figurent l'asthme, les allergies alimentaires, la colite, la diarrhée chronique, le lymphome et les crises d'épilepsie, ainsi qu'une dysmorphie faciale à type de front proéminent, de nez large et de mauvaise dentition."},"de":{"name":"CADINS-Krankheit","synonyms":["CARD11-Defekt","CARD11-assoziierte Atopie mit dominanter Störung der NF-kB-Signalübertragung"],"definition":"Ein seltenes Hyper-IgE-Syndrom, das durch das frühe Auftreten einer schweren atopischen Dermatitis und wiederkehrender Infektionen unterschiedlicher Schwere gekennzeichnet ist, darunter Molluscum contagiosum, Lungenentzündung, Abszesse, Bakteriämie oder Kaposi-Juliusberg-Syndrom. Weitere berichtete Symptome sind Asthma, Nahrungsmittelallergien, Kolitis, chronischer Durchfall, Lymphome und epileptische Anfälle sowie eine Gesichtsdysmorphie mit hoher Stirn, breiter Nase und Zahnverlust."},"es":{"name":"Enfermedad CADINS","synonyms":["Síndrome de atopia con interferencia dominante de la señalización NF-kB asociado a CARD11"],"definition":"Es un síndrome de hiper-IgE poco frecuente caracterizado por dermatitis atópica de moderada a grave de inicio precoz e infecciones recurrentes de gravedad variable que incluyen molusco contagioso, neumonía, abscesos, bacteriemia o eccema herpético, entre otras. Otras manifestaciones descritas incluyen asma, alergias alimentarias, colitis, diarrea crónica, linfoma y crisis epilépticas, así como rasgos faciales dismórficos, tales como frente prominente, nariz ancha y mala dentición."},"it":{"name":"Malattia CADINS","synonyms":["Sindrome da atopia correlata a CARD11 con interferenza dominante del segnale di NF-kB"]},"nl":{"name":"CADINS-ziekte","synonyms":["CARD11-geassocieerde atopie met dominante interferentie van NF-kB-signalering-syndroom"],"definition":"Een zeldzaam hyper-IgE-syndroom, gekenmerkt door vroeg optredende matige tot ernstige atopische dermatitis en recidiverende infecties met variabele ernst, waaronder molluscum contagiosum, pneumonie, abcessen, bacteriëmie, of eczema herpeticum. Overige manifestaties die werden gerapporteerd, zijn onder meer astma, voedselallergie, colitis, chronische diarree, lymfoom, en insulten, alsook dysmorfe gelaatskenmerken zoals prominent voorhoofd, brede neus, en slecht gebit."},"pt":{"name":"Doença CADINS","synonyms":["Síndrome de atopia CARD11-associada com interferência dominante da via de sinalização NF-kB"],"definition":"Síndrome rara de hiper-IgE caracterizada por dermatite atópica de início precoce moderada a grave e infeções recorrentes de gravidade variável, incluindo molusco contagioso, pneumonia, abcessos, bacteriemia ou eczema herpético, entre outros. Outras manifestações relatadas incluem asma, alergias alimentares, colite, diarreia crónica, linfoma e convulsões, bem como características faciais dismórficas, como fronte proeminente, nariz largo e alterações na dentição."},"pl":{"name":"Choroba CADINS","synonyms":["CARD11-associated atopy with dominant interference of NF-kB signaling syndrome"],"definition":"Rzadki zespół hiper-IgE charakteryzujący się wczesnym początkiem umiarkowanego lub ciężkiego atopowego zapalenia skóry i nawracającymi infekcjami o różnym nasileniu, w tym mięczakiem zakaźnym, zapaleniem płuc, ropniami, bakteriemią lub wypryskiem opryszczkowym. Inne objawy obejmują astmę, alergie pokarmowe, zapalenie okrężnicy, przewlekłą biegunkę, chłoniaka i drgawki, a także dysmorficzne rysy twarzy, takie jak wystające czoło, szeroki nos i słabe uzębienie."},"cs":{"name":"Onemocnění CADINS","synonyms":["CARD11-associated atopy with dominant interference of NF-kB signaling syndrome"]},"uk":{"name":"Хвороба CADINS","synonyms":["CARD11-асоційована атопія з домінуючим втручанням сигнального синдрому NF-kB"],"definition":"A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition."}},"xrefs":[{"source":"OMIM","code":"617638","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CARD11","name":"caspase recruitment domain family member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31953710[PMID]","hgnc":"16393","ensembl":"ENSG00000198286","omim":"607210","loci":["7p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}