CANDIDIASIS, FAMILIAL, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE
CARD9 IMMUNODEFICIENCY
CANDF2
Number of Symptoms 23
OrphanetNr:
OMIM Id: 212050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001287) Meningitis rare [HPO:skoehler] 46 / 7739
2
(HPO:0009098) Chronic oral candidiasis 5 / 7739
3
(HPO:0001597) Abnormality of the nail 115 / 7739
4
(HPO:0001891) Iron deficiency anemia 22 / 7739
5
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
6
(HPO:0012203) Onychomycosis 3 / 7739
7
(HPO:0002721) Immunodeficiency 97 / 7739
8
(OMIM) Dermatophytic invasion of bone (in some patients) 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Epithelioid cell infiltration of dermis 1 / 7739
11
(OMIM) Tinea capitis, severe or recurrent 1 / 7739
12
(OMIM) Abnormally bulging phagolysosomes in neutrophils after uptake of Candida albicans 1 / 7739
13
(OMIM) Candidiasis, chronic 3 / 7739
14
(OMIM) Granulomatous dermatitis 3 / 7739
15
(OMIM) Dermatophytic lymphadenitis (in some patients) 1 / 7739
16
(OMIM) Hyphae and pseudohyphae within granulomas 1 / 7739
17
(OMIM) Hyphae and pseudohyphae in cytoplasm of multinucleated giant cells 1 / 7739
18
(OMIM) Dermatophytic invasion of gastrointestinal tract (in some patients) 1 / 7739
19
(OMIM) Dermatophytosis, chronic Deep dermatophytosis (in some patients) 1 / 7739
20
(OMIM) Candidal meningitis (in some patients) 1 / 7739
21
(OMIM) Multinucleated giant cells in dermis 1 / 7739
22
(OMIM) Macrophage infiltration of dermis 1 / 7739
23
(OMIM) Vaginal candidiasis, chronic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wells et al. (1972) investigated 46 patients with chronic oral candidiasis. Within the series they recognized a 'new' syndrome, present in 22 cases. The nails and skin were sometimes affected. Eighteen cases in 8 kindreds were studied. Parental ...
Molecular genetics OMIM In a large consanguineous Iranian family segregating autosomal recessive chronic mucocutaneous candidiasis mapping to chromosome 9, Glocker et al. (2009) identified homozygosity for a nonsense mutation (Q295X; 607212.0001) in the CARD9 gene in all 4 affected individuals. Eighteen ...