MCID: CND026
MIFTS: 33

Candidiasis, Familial, 2, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Blood diseases, Skin diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Candidiasis, Familial, 2, Autosomal Recessive

MalaCards integrated aliases for Candidiasis, Familial, 2, Autosomal Recessive:

Name: Candidiasis, Familial, 2, Autosomal Recessive 54
Candidiasis, Familial, 2 71 29 69
Familial Chronic Mucocutaneous Candidiasis 50 69
Candf2 24 71
Predisposition to Invasive Fungal Disease Due to Card9 Deficiency 56
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive 50
Familial Chronic Mucocutaneous Candidiasis, Autosomal Recessive 24
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive 71
Invasive Candidiasis-Deep Dermatophytosis Syndrome 56
Familial Candidiasis 2 24
Card9 Immunodeficiency 71
Card9 Deficiency 50

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
candidiasis, familial, 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 212050
Orphanet 56 ORPHA457088
ICD10 via Orphanet 34 D84.8
MedGen 40 C1859353
MeSH 42 D002178

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 Candidiasis, familial, 2: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

MalaCards based summary : Candidiasis, Familial, 2, Autosomal Recessive, also known as candidiasis, familial, 2, is related to candidiasis, familial, 4, autosomal recessive and candidiasis, familial, 8, and has symptoms including immunodeficiency, onychomycosis and meningitis. An important gene associated with Candidiasis, Familial, 2, Autosomal Recessive is CARD9 (Caspase Recruitment Domain Family Member 9), and among its related pathways/superpathways are Toll-Like receptor Signaling Pathways and CLEC7A (Dectin-1) signaling. Affiliated tissues include skin, neutrophil and bone, and related phenotype is Increased shRNA abundance (Z-score > 2).

Description from OMIM: 212050

Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

Graphical network of the top 20 diseases related to Candidiasis, Familial, 2, Autosomal Recessive:



Diseases related to Candidiasis, Familial, 2, Autosomal Recessive

Symptoms & Phenotypes for Candidiasis, Familial, 2, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

54

Immunology:
immunodeficiency
dermatophytic lymphadenitis (in some patients)

Skin Nails & Hair- Skin:
tinea capitis, severe or recurrent
dermatophytosis, chronic deep dermatophytosis (in some patients)

Head And Neck- Mouth:
candidiasis, chronic

Genitourinary- Internal Genitalia Female:
vaginal candidiasis, chronic

Skin Nails & Hair- Skin Histology:
granulomatous dermatitis
macrophage infiltration of dermis
epithelioid cell infiltration of dermis
multinucleated giant cells in dermis
hyphae and pseudohyphae within granulomas
more
Neurologic- Central Nervous System:
candidal meningitis (in some patients)

Skin Nails & Hair- Nails:
onychomycosis

Head And Neck- Head:
tinea capitis, severe or recurrent

Abdomen- Gastroin testinal:
dermatophytic invasion of gastrointestinal tract (in some patients)

Skeletal- Feet:
dermatophytic invasion of bone (in some patients)

Skin Nails & Hair- Skin Electron Microscopy:
abnormally bulging phagolysosomes in neutrophils after uptake of candida albicans

Hematology:
iron deficiency (in some patients)


Clinical features from OMIM:

212050

Human phenotypes related to Candidiasis, Familial, 2, Autosomal Recessive:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 onychomycosis 32 HP:0012203
3 meningitis 32 occasional (7.5%) HP:0001287
4 abnormality of the nail 32 HP:0001597
5 abnormality of blood and blood-forming tissues 32 HP:0001871
6 chronic oral candidiasis 32 HP:0009098

GenomeRNAi Phenotypes related to Candidiasis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.75 CLEC7A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.75 CLEC7A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.75 CLEC7A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.75 CLEC7A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.75 CARD9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.75 CLEC7A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.75 CLEC7A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.75 CARD9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.75 CLEC7A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.75 CLEC7A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.75 CLEC7A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.75 CLEC7A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.75 CLEC7A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.75 CARD9
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.75 CLEC7A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.75 CLEC7A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.75 CLEC7A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 CLEC7A CARD9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.75 CARD9
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.75 CLEC7A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.75 CLEC7A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.75 CARD9
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 CARD9
24 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.75 CLEC7A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.75 CLEC7A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 CLEC7A

Drugs & Therapeutics for Candidiasis, Familial, 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 2, Autosomal Recessive

Genetic Tests for Candidiasis, Familial, 2, Autosomal Recessive

Genetic tests related to Candidiasis, Familial, 2, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Candidiasis, Familial, 2 29
2 Familial Candidiasis 2 24 CARD9

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

MalaCards organs/tissues related to Candidiasis, Familial, 2, Autosomal Recessive:

39
Skin, Neutrophil, Bone

Publications for Candidiasis, Familial, 2, Autosomal Recessive

Variations for Candidiasis, Familial, 2, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 2, Autosomal Recessive:

71
id Symbol AA change Variation ID SNP ID
1 CARD9 p.Gly72Ser VAR_070828 rs398122362
2 CARD9 p.Arg101Cys VAR_070829 rs398122364
3 CARD9 p.Arg373Pro VAR_070830 rs149712114

ClinVar genetic disease variations for Candidiasis, Familial, 2, Autosomal Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CARD9 NM_052813.4(CARD9): c.883C> T (p.Gln295Ter) single nucleotide variant Pathogenic rs121918338 GRCh37 Chromosome 9, 139264814: 139264814
2 CLEC7A NM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter) single nucleotide variant risk factor rs16910526 GRCh37 Chromosome 12, 10271087: 10271087
3 CARD9 NM_052813.4(CARD9): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs398122362 GRCh37 Chromosome 9, 139265884: 139265884
4 CARD9 NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro) single nucleotide variant Pathogenic rs149712114 GRCh37 Chromosome 9, 139262240: 139262240
5 CARD9 NM_052813.4(CARD9): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic rs398122363 GRCh37 Chromosome 9, 139264832: 139264832
6 CARD9 NM_052813.4(CARD9): c.301C> T (p.Arg101Cys) single nucleotide variant Pathogenic rs398122364 GRCh37 Chromosome 9, 139265797: 139265797

Expression for Candidiasis, Familial, 2, Autosomal Recessive

Search GEO for disease gene expression data for Candidiasis, Familial, 2, Autosomal Recessive.

Pathways for Candidiasis, Familial, 2, Autosomal Recessive

GO Terms for Candidiasis, Familial, 2, Autosomal Recessive

Biological processes related to Candidiasis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.16 CARD9 CLEC7A
2 immune system process GO:0002376 8.96 CARD9 CLEC7A
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 8.62 CARD9 CLEC7A

Sources for Candidiasis, Familial, 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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