Predisposition to invasive fungal disease due to CARD9 deficiency
Synonyms: Invasive candidiasis-deep dermatophytosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Predisposition to invasive fungal disease due to CARD9 deficiency | Invasive candidiasis-deep dermatophytosis syndrome |
| fr | Prédisposition aux infections fongiques invasives par déficit en CARD9 | Syndrome de candidose invasive-dermatophytie profonde |
| de | Prädisposition für invasive Pilzinfektionen durch CARD9-Mangel | Invasive Candidose-tiefe Dermatophytose-Syndrom |
| es | Predisposición a una enfermedad fúngica invasora por deficiencia de CARD9 | Síndrome de candidiasis invasiva-dermatofitosis profunda |
| it | Suscettibilità alle micosi invasive da deficit di CARD9 | |
| nl | Predispositie voor invasieve schimmelinfectie door CARD9-deficiëntie | Invasieve candidiasis - diepe dermatofytose-syndroom · Invasieve candidose - diepe dermatofytose-syndroom |
| pt | Predisposição a doença fúngica invasiva por défice de CARD9 | |
| pl | Predyspozycja do inwazyjnej grzybicy z powodu niedoboru CARD9 | Zespół inwazyjnej kandydozy i głębokiej dermatofitozy |
| cs | Predispozice k invazivním mykotickým onemocněním způsobená deficitem CARD9 | Syndrom zahrnující invazivní kandidózu a hlubokou dermatofytózu |
| uk | Схильність до інвазивних грибкових захворювань, зумовлена дефіцитом CARD9 | Синдром інвазивного кандидозу - глибокого дерматофітії |
| zh | CARD9缺陷导致侵袭性真菌感染易感 | 侵袭性念珠菌病-深部皮肤癣菌综合症 |
| tr | CARD9 eksikliğine bağlı invazif mantar hastalığına yatkınlık | İnvazif kandidiyaz-derin dermatofitoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212050 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0008905 | E | validated | |
| UMLS | C1859353 | E | validated | |
| MedDRA | 10083959 | 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 (1):
- ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARD9 | Disease-causing germline mutation(s) in | Assessed | HGNC:16391 | ENSG00000187796 | 607212 | 9q34.3 | caspase recruitment domain family member 9 | 19864672[PMID]_24131138[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/457088
- This record as JSON: /data/d/457088.json