CADINS disease
Synonyms: CARD11-associated atopy with dominant interference of NF-kB signaling syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
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.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CADINS disease | CARD11-associated atopy with dominant interference of NF-kB signaling syndrome |
| fr | Maladie CADINS | Syndrome d'atopie avec interférence dominante sur la voie de signalisation NF-kB associé à CARD11 |
| de | CADINS-Krankheit | CARD11-Defekt · CARD11-assoziierte Atopie mit dominanter Störung der NF-kB-Signalübertragung |
| es | Enfermedad CADINS | Síndrome de atopia con interferencia dominante de la señalización NF-kB asociado a CARD11 |
| it | Malattia CADINS | Sindrome da atopia correlata a CARD11 con interferenza dominante del segnale di NF-kB |
| nl | CADINS-ziekte | CARD11-geassocieerde atopie met dominante interferentie van NF-kB-signalering-syndroom |
| pt | Doença CADINS | Síndrome de atopia CARD11-associada com interferência dominante da via de sinalização NF-kB |
| pl | Choroba CADINS | = en |
| cs | Onemocnění CADINS | = en |
| uk | Хвороба CADINS | CARD11-асоційована атопія з домінуючим втручанням сигнального синдрому NF-kB |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617638 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0850070 | E | validated | |
| UMLS | C5680417 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARD11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16393 | ENSG00000198286 | 607210 | 7p22.2 | caspase recruitment domain family member 11 | 31953710[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/619972
- This record as JSON: /data/d/619972.json