CANDIDIASIS, FAMILIAL, 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY CANDN1 CANDF3 FCNC |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
607644
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Low serum concentration of intercellular adhesion molecule 1 (ICAM1) | 1 / 7739 | ||||
|
|
(OMIM) | Candidiasis, chronic | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Zuccarello et al. (2002) described a Sicilian kindred in which 11 individuals in 5 generations had an apparently distinctive form of familial chronic candidiasis characterized by early-onset infections caused by different species of Candida restricted to the nails ... |