MCID: CND034
MIFTS: 29

Candidiasis, Familial, 2

Categories: Genetic diseases, Rare diseases, Blood diseases, Skin diseases, Immune diseases, Infectious 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 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 candidiasis, familial, 8. An important gene associated with Candidiasis, Familial, 2 is CARD9 (Caspase Recruitment Domain Family Member 9). Affiliated tissues include skin, neutrophil and bone, and related phenotypes are meningitis and abnormality of the nail

Description from OMIM: 212050

Related Diseases for Candidiasis, Familial, 2

Diseases in the Candidiasis family:

Candidiasis, Familial, 1 Candidiasis, Familial, 2
Candidiasis, Familial, 3 Candidiasis, Familial, 4
Candidiasis, Familial, 6 Candidiasis, Familial, 8
Candidiasis, Familial, 9 Familial Candidiasis

Diseases related to Candidiasis, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial candidiasis 30.0 CARD9 DNLZ
2 candidiasis, familial, 8 11.5
3 immunodeficiency 51 11.3
4 candidiasis, familial, 4 11.0
5 colitis 9.8
6 meningoencephalitis 9.8
7 candidiasis 9.8
8 dermatophytosis 9.8
9 deep dermatophytosis 9.8

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 meningitis 32 occasional (7.5%) HP:0001287
2 abnormality of the nail 32 HP:0001597
3 abnormality of blood and blood-forming tissues 32 HP:0001871
4 immunodeficiency 32 HP:0002721
5 chronic oral candidiasis 32 HP:0009098
6 onychomycosis 32 HP:0012203

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

Anatomical Context for Candidiasis, Familial, 2

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

41
Skin, Neutrophil, Bone

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 76)
# 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 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.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs398122362 GRCh38 Chromosome 9, 136371432: 136371432
5 CARD9 NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro) single nucleotide variant Pathogenic rs149712114 GRCh37 Chromosome 9, 139262240: 139262240
6 CARD9 NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro) single nucleotide variant Pathogenic rs149712114 GRCh38 Chromosome 9, 136367788: 136367788
7 CARD9 NM_052813.4(CARD9): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic rs398122363 GRCh37 Chromosome 9, 139264832: 139264832
8 CARD9 NM_052813.4(CARD9): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic rs398122363 GRCh38 Chromosome 9, 136370380: 136370380
9 CARD9 NM_052813.4(CARD9): c.301C> T (p.Arg101Cys) single nucleotide variant Pathogenic rs398122364 GRCh37 Chromosome 9, 139265797: 139265797
10 CARD9 NM_052813.4(CARD9): c.301C> T (p.Arg101Cys) single nucleotide variant Pathogenic rs398122364 GRCh38 Chromosome 9, 136371345: 136371345
11 CARD9 NM_052813.4(CARD9): c.1153G> C (p.Val385Leu) single nucleotide variant Benign/Likely benign rs3124993 GRCh37 Chromosome 9, 139262205: 139262205
12 CARD9 NM_052813.4(CARD9): c.1153G> C (p.Val385Leu) single nucleotide variant Benign/Likely benign rs3124993 GRCh38 Chromosome 9, 136367753: 136367753
13 CARD9 NM_052813.4(CARD9): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs34971035 GRCh38 Chromosome 9, 136371144: 136371144
14 CARD9 NM_052813.4(CARD9): c.324C> T (p.Asp108=) single nucleotide variant Conflicting interpretations of pathogenicity rs34971035 GRCh37 Chromosome 9, 139265596: 139265596
15 CARD9 NM_052813.4(CARD9): c.1393T> C (p.Phe465Leu) single nucleotide variant Uncertain significance rs373635926 GRCh37 Chromosome 9, 139259634: 139259634
16 CARD9 NM_052813.4(CARD9): c.1393T> C (p.Phe465Leu) single nucleotide variant Uncertain significance rs373635926 GRCh38 Chromosome 9, 136365182: 136365182
17 CARD9 NM_052813.4(CARD9): c.1383G> A (p.Pro461=) single nucleotide variant Benign/Likely benign rs138344913 GRCh37 Chromosome 9, 139259644: 139259644
18 CARD9 NM_052813.4(CARD9): c.1383G> A (p.Pro461=) single nucleotide variant Benign/Likely benign rs138344913 GRCh38 Chromosome 9, 136365192: 136365192
19 CARD9 NM_052813.4(CARD9): c.1382C> T (p.Pro461Leu) single nucleotide variant Uncertain significance rs774571551 GRCh37 Chromosome 9, 139259645: 139259645
20 CARD9 NM_052813.4(CARD9): c.1382C> T (p.Pro461Leu) single nucleotide variant Uncertain significance rs774571551 GRCh38 Chromosome 9, 136365193: 136365193
21 CARD9 NM_052813.4(CARD9): c.870G> A (p.Ala290=) single nucleotide variant Benign/Likely benign rs115057256 GRCh37 Chromosome 9, 139264827: 139264827
22 CARD9 NM_052813.4(CARD9): c.870G> A (p.Ala290=) single nucleotide variant Benign/Likely benign rs115057256 GRCh38 Chromosome 9, 136370375: 136370375
23 CARD9 NM_052813.4(CARD9): c.808-9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200458322 GRCh37 Chromosome 9, 139264898: 139264898
24 CARD9 NM_052813.4(CARD9): c.808-9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200458322 GRCh38 Chromosome 9, 136370446: 136370446
25 CARD9 NM_052813.4(CARD9): c.297G> A (p.Pro99=) single nucleotide variant Benign rs115131813 GRCh37 Chromosome 9, 139265801: 139265801
26 CARD9 NM_052813.4(CARD9): c.297G> A (p.Pro99=) single nucleotide variant Benign rs115131813 GRCh38 Chromosome 9, 136371349: 136371349
27 CARD9 NM_052813.4(CARD9): c.1260G> A (p.Thr420=) single nucleotide variant Conflicting interpretations of pathogenicity rs142757984 GRCh37 Chromosome 9, 139262098: 139262098
28 CARD9 NM_052813.4(CARD9): c.1260G> A (p.Thr420=) single nucleotide variant Conflicting interpretations of pathogenicity rs142757984 GRCh38 Chromosome 9, 136367646: 136367646
29 CARD9 NM_052813.4(CARD9): c.809A> T (p.Glu270Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114895119 GRCh37 Chromosome 9, 139264888: 139264888
30 CARD9 NM_052813.4(CARD9): c.809A> T (p.Glu270Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114895119 GRCh38 Chromosome 9, 136370436: 136370436
31 CARD9 NM_052813.4(CARD9): c.693G> A (p.Thr231=) single nucleotide variant Benign/Likely benign rs59902911 GRCh37 Chromosome 9, 139265088: 139265088
32 CARD9 NM_052813.4(CARD9): c.693G> A (p.Thr231=) single nucleotide variant Benign/Likely benign rs59902911 GRCh38 Chromosome 9, 136370636: 136370636
33 CARD9 NM_052813.4(CARD9): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112244317 GRCh37 Chromosome 9, 139265412: 139265412
34 CARD9 NM_052813.4(CARD9): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112244317 GRCh38 Chromosome 9, 136370960: 136370960
35 CARD9 NM_052813.4(CARD9): c.12C> T (p.Tyr4=) single nucleotide variant Conflicting interpretations of pathogenicity rs35051231 GRCh37 Chromosome 9, 139266519: 139266519
36 CARD9 NM_052813.4(CARD9): c.12C> T (p.Tyr4=) single nucleotide variant Conflicting interpretations of pathogenicity rs35051231 GRCh38 Chromosome 9, 136372067: 136372067
37 CARD9 NM_052813.4(CARD9): c.463C> T (p.Arg155Cys) single nucleotide variant Uncertain significance rs199947855 GRCh37 Chromosome 9, 139265457: 139265457
38 CARD9 NM_052813.4(CARD9): c.463C> T (p.Arg155Cys) single nucleotide variant Uncertain significance rs199947855 GRCh38 Chromosome 9, 136371005: 136371005
39 CARD9 NM_052813.4(CARD9): c.432C> T (p.Ile144=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 136371036: 136371036
40 CARD9 NM_052813.4(CARD9): c.432C> T (p.Ile144=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 139265488: 139265488
41 CARD9 NM_052813.4(CARD9): c.1096G> A (p.Glu366Lys) single nucleotide variant Uncertain significance rs146829177 GRCh37 Chromosome 9, 139262262: 139262262
42 CARD9 NM_052813.4(CARD9): c.1096G> A (p.Glu366Lys) single nucleotide variant Uncertain significance rs146829177 GRCh38 Chromosome 9, 136367810: 136367810
43 CARD9 NM_052813.4(CARD9): c.951+10_951+17delCAGGCGGG deletion Likely benign rs147386417 GRCh37 Chromosome 9, 139264729: 139264736
44 CARD9 NM_052813.4(CARD9): c.951+10_951+17delCAGGCGGG deletion Likely benign rs147386417 GRCh38 Chromosome 9, 136370277: 136370284
45 CARD9 NM_052813.4(CARD9): c.1596C> T (p.Asp532=) single nucleotide variant Benign rs151057624 GRCh37 Chromosome 9, 139258769: 139258769
46 CARD9 NM_052813.4(CARD9): c.1596C> T (p.Asp532=) single nucleotide variant Benign rs151057624 GRCh38 Chromosome 9, 136364317: 136364317
47 CARD9 NM_052813.4(CARD9): c.951+4G> A single nucleotide variant Likely benign rs757527643 GRCh38 Chromosome 9, 136370290: 136370290
48 CARD9 NM_052813.4(CARD9): c.951+4G> A single nucleotide variant Likely benign rs757527643 GRCh37 Chromosome 9, 139264742: 139264742
49 CARD9 NM_052813.4(CARD9): c.1434+1G> C single nucleotide variant Likely benign rs141992399 GRCh37 Chromosome 9, 139259592: 139259592
50 CARD9 NM_052813.4(CARD9): c.1434+1G> C single nucleotide variant Likely benign rs141992399 GRCh38 Chromosome 9, 136365140: 136365140

Expression for Candidiasis, Familial, 2

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

Pathways for Candidiasis, Familial, 2

GO Terms for Candidiasis, Familial, 2

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