CANDF2
MCID: CND034
MIFTS: 36

Candidiasis, Familial, 2 (CANDF2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Candidiasis, Familial, 2

MalaCards integrated aliases for Candidiasis, Familial, 2:

Name: Candidiasis, Familial, 2 57 75 29 6 73
Familial Chronic Mucocutaneous Candidiasis 53 29 6 73
Card9 Immunodeficiency 57 75
Candf2 57 75
Predisposition to Invasive Fungal Disease Due to Card9 Deficiency 59
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 57
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive 53
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive 75
Invasive Candidiasis-Deep Dermatophytosis Syndrome 59
Candidiasis, Familial, 2, Autosomal Recessive 57
Candidiasis, Familial, Type 2 40
Card9 Deficiency 53

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
candidiasis, familial, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 212050
Orphanet 59 ORPHA457088
ICD10 via Orphanet 34 D84.8
MedGen 42 C1859353
MeSH 44 D002178

Summaries for Candidiasis, Familial, 2

UniProtKB/Swiss-Prot : 75 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, also known as familial chronic mucocutaneous candidiasis, is related to familial candidiasis and chronic mucocutaneous candidiasis. An important gene associated with Candidiasis, Familial, 2 is CARD9 (Caspase Recruitment Domain Family Member 9), and among its related pathways/superpathways are CLEC7A (Dectin-1) signaling and Tuberculosis. Affiliated tissues include skin, bone and neutrophil, and related phenotypes are abnormality of the nail and immunodeficiency

Description from OMIM: 212050

Related Diseases for Candidiasis, Familial, 2

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



Diseases related to Candidiasis, Familial, 2

Symptoms & Phenotypes for Candidiasis, Familial, 2

Symptoms via clinical synopsis from OMIM:

57
Immunology:
immunodeficiency
dermatophytic lymphadenitis (in some patients)

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

Abdomen Gastrointestinal:
dermatophytic invasion of gastrointestinal tract (in some patients)

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

Neurologic Central Nervous System:
candidal meningitis (in some patients)

Skin Nails Hair Nails:
onychomycosis

Head And Neck Head:
tinea capitis, severe or recurrent

Head And Neck Mouth:
candidiasis, chronic

Genitourinary Internal Genitalia Female:
vaginal candidiasis, chronic

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:

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

Drugs & Therapeutics for Candidiasis, Familial, 2

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

Genetic Tests for Candidiasis, Familial, 2

Genetic tests related to Candidiasis, Familial, 2:

# Genetic test Affiliating Genes
1 Candidiasis, Familial, 2 29 CARD9
2 Familial Chronic Mucocutaneous Candidiasis 29 CLEC7A

Anatomical Context for Candidiasis, Familial, 2

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

41
Skin, Bone, Neutrophil

Publications for Candidiasis, Familial, 2

Articles related to Candidiasis, Familial, 2:

# Title Authors Year
1
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea. ( 16284681 )
2005
2
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis. ( 10445344 )
1999
3
Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection. ( 8160723 )
1994
4
[Familial chronic mucocutaneous candidiasis. Study of 2 families]. ( 6330471 )
1984
5
Familial chronic mucocutaneous candidiasis successfully treated with oral ketoconazole. ( 6256921 )
1981

Variations for Candidiasis, Familial, 2

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

75
# 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:

6 (show top 50) (show all 98)
# 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 CARD9 NM_052813.4(CARD9): c.883C> T (p.Gln295Ter) single nucleotide variant Pathogenic rs121918338 GRCh38 Chromosome 9, 136370362: 136370362
3 CLEC7A NM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter) single nucleotide variant Benign rs16910526 GRCh37 Chromosome 12, 10271087: 10271087
4 CLEC7A NM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter) single nucleotide variant Benign rs16910526 GRCh38 Chromosome 12, 10118488: 10118488
5 CARD9 NM_052813.4(CARD9): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs398122362 GRCh37 Chromosome 9, 139265884: 139265884
6 CARD9 NM_052813.4(CARD9): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs398122362 GRCh38 Chromosome 9, 136371432: 136371432
7 CARD9 NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro) single nucleotide variant Pathogenic rs149712114 GRCh37 Chromosome 9, 139262240: 139262240
8 CARD9 NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro) single nucleotide variant Pathogenic rs149712114 GRCh38 Chromosome 9, 136367788: 136367788
9 CARD9 NM_052813.4(CARD9): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic rs398122363 GRCh37 Chromosome 9, 139264832: 139264832
10 CARD9 NM_052813.4(CARD9): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic rs398122363 GRCh38 Chromosome 9, 136370380: 136370380
11 CARD9 NM_052813.4(CARD9): c.301C> T (p.Arg101Cys) single nucleotide variant Pathogenic rs398122364 GRCh37 Chromosome 9, 139265797: 139265797
12 CARD9 NM_052813.4(CARD9): c.301C> T (p.Arg101Cys) single nucleotide variant Pathogenic rs398122364 GRCh38 Chromosome 9, 136371345: 136371345
13 CARD9 NM_052813.4(CARD9): c.1153G> C (p.Val385Leu) single nucleotide variant Benign/Likely benign rs3124993 GRCh37 Chromosome 9, 139262205: 139262205
14 CARD9 NM_052813.4(CARD9): c.1153G> C (p.Val385Leu) single nucleotide variant Benign/Likely benign rs3124993 GRCh38 Chromosome 9, 136367753: 136367753
15 CARD9 NM_052813.4(CARD9): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs34971035 GRCh37 Chromosome 9, 139265596: 139265596
16 CARD9 NM_052813.4(CARD9): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs34971035 GRCh38 Chromosome 9, 136371144: 136371144
17 CARD9 NM_052813.4(CARD9): c.1393T> C (p.Phe465Leu) single nucleotide variant Uncertain significance rs373635926 GRCh37 Chromosome 9, 139259634: 139259634
18 CARD9 NM_052813.4(CARD9): c.1393T> C (p.Phe465Leu) single nucleotide variant Uncertain significance rs373635926 GRCh38 Chromosome 9, 136365182: 136365182
19 CARD9 NM_052813.4(CARD9): c.1383G> A (p.Pro461=) single nucleotide variant Benign/Likely benign rs138344913 GRCh37 Chromosome 9, 139259644: 139259644
20 CARD9 NM_052813.4(CARD9): c.1383G> A (p.Pro461=) single nucleotide variant Benign/Likely benign rs138344913 GRCh38 Chromosome 9, 136365192: 136365192
21 CARD9 NM_052813.4(CARD9): c.1382C> T (p.Pro461Leu) single nucleotide variant Uncertain significance rs774571551 GRCh37 Chromosome 9, 139259645: 139259645
22 CARD9 NM_052813.4(CARD9): c.1382C> T (p.Pro461Leu) single nucleotide variant Uncertain significance rs774571551 GRCh38 Chromosome 9, 136365193: 136365193
23 CARD9 NM_052813.4(CARD9): c.870G> A (p.Ala290=) single nucleotide variant Benign/Likely benign rs115057256 GRCh37 Chromosome 9, 139264827: 139264827
24 CARD9 NM_052813.4(CARD9): c.870G> A (p.Ala290=) single nucleotide variant Benign/Likely benign rs115057256 GRCh38 Chromosome 9, 136370375: 136370375
25 CARD9 NM_052813.4(CARD9): c.808-9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200458322 GRCh37 Chromosome 9, 139264898: 139264898
26 CARD9 NM_052813.4(CARD9): c.808-9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200458322 GRCh38 Chromosome 9, 136370446: 136370446
27 CARD9 NM_052813.4(CARD9): c.297G> A (p.Pro99=) single nucleotide variant Benign rs115131813 GRCh37 Chromosome 9, 139265801: 139265801
28 CARD9 NM_052813.4(CARD9): c.297G> A (p.Pro99=) single nucleotide variant Benign rs115131813 GRCh38 Chromosome 9, 136371349: 136371349
29 CARD9 NM_052813.4(CARD9): c.1260G> A (p.Thr420=) single nucleotide variant Conflicting interpretations of pathogenicity rs142757984 GRCh37 Chromosome 9, 139262098: 139262098
30 CARD9 NM_052813.4(CARD9): c.1260G> A (p.Thr420=) single nucleotide variant Conflicting interpretations of pathogenicity rs142757984 GRCh38 Chromosome 9, 136367646: 136367646
31 CARD9 NM_052813.4(CARD9): c.809A> T (p.Glu270Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114895119 GRCh37 Chromosome 9, 139264888: 139264888
32 CARD9 NM_052813.4(CARD9): c.809A> T (p.Glu270Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114895119 GRCh38 Chromosome 9, 136370436: 136370436
33 CARD9 NM_052813.4(CARD9): c.693G> A (p.Thr231=) single nucleotide variant Benign/Likely benign rs59902911 GRCh37 Chromosome 9, 139265088: 139265088
34 CARD9 NM_052813.4(CARD9): c.693G> A (p.Thr231=) single nucleotide variant Benign/Likely benign rs59902911 GRCh38 Chromosome 9, 136370636: 136370636
35 CARD9 NM_052813.4(CARD9): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112244317 GRCh37 Chromosome 9, 139265412: 139265412
36 CARD9 NM_052813.4(CARD9): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112244317 GRCh38 Chromosome 9, 136370960: 136370960
37 CARD9 NM_052813.4(CARD9): c.12C> T (p.Tyr4=) single nucleotide variant Conflicting interpretations of pathogenicity rs35051231 GRCh37 Chromosome 9, 139266519: 139266519
38 CARD9 NM_052813.4(CARD9): c.12C> T (p.Tyr4=) single nucleotide variant Conflicting interpretations of pathogenicity rs35051231 GRCh38 Chromosome 9, 136372067: 136372067
39 CARD9 NM_052813.4(CARD9): c.463C> T (p.Arg155Cys) single nucleotide variant Uncertain significance rs199947855 GRCh37 Chromosome 9, 139265457: 139265457
40 CARD9 NM_052813.4(CARD9): c.463C> T (p.Arg155Cys) single nucleotide variant Uncertain significance rs199947855 GRCh38 Chromosome 9, 136371005: 136371005
41 CARD9 NM_052813.4(CARD9): c.432C> T (p.Ile144=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 139265488: 139265488
42 CARD9 NM_052813.4(CARD9): c.432C> T (p.Ile144=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 136371036: 136371036
43 CARD9 NM_052813.4(CARD9): c.1096G> A (p.Glu366Lys) single nucleotide variant Uncertain significance rs146829177 GRCh37 Chromosome 9, 139262262: 139262262
44 CARD9 NM_052813.4(CARD9): c.1096G> A (p.Glu366Lys) single nucleotide variant Uncertain significance rs146829177 GRCh38 Chromosome 9, 136367810: 136367810
45 CARD9 NM_052813.4(CARD9): c.951+10_951+17delCAGGCGGG deletion Likely benign rs147386417 GRCh37 Chromosome 9, 139264729: 139264736
46 CARD9 NM_052813.4(CARD9): c.951+10_951+17delCAGGCGGG deletion Likely benign rs147386417 GRCh38 Chromosome 9, 136370277: 136370284
47 CARD9 NM_052813.4(CARD9): c.1596C> T (p.Asp532=) single nucleotide variant Benign rs151057624 GRCh38 Chromosome 9, 136364317: 136364317
48 CARD9 NM_052813.4(CARD9): c.1596C> T (p.Asp532=) single nucleotide variant Benign rs151057624 GRCh37 Chromosome 9, 139258769: 139258769
49 CARD9 NM_052813.4(CARD9): c.951+4G> A single nucleotide variant Likely benign rs757527643 GRCh37 Chromosome 9, 139264742: 139264742
50 CARD9 NM_052813.4(CARD9): c.951+4G> A single nucleotide variant Likely benign rs757527643 GRCh38 Chromosome 9, 136370290: 136370290

Expression for Candidiasis, Familial, 2

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

Pathways for Candidiasis, Familial, 2

Pathways related to Candidiasis, Familial, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 CARD9 CLEC7A
2 11.21 CARD9 CLEC7A
3
Show member pathways
10.86 CARD9 CLEC7A

GO Terms for Candidiasis, Familial, 2

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 8.96 CARD9 CLEC7A
2 innate immune response GO:0045087 8.62 CARD9 CLEC7A

Sources for Candidiasis, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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