CANDF2
MCID: CND034
MIFTS: 35

Candidiasis, Familial, 2 (CANDF2)

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

Aliases & Classifications for Candidiasis, Familial, 2

MalaCards integrated aliases for Candidiasis, Familial, 2:

Name: Candidiasis, Familial, 2 56 73 29 6 71
Predisposition to Invasive Fungal Disease Due to Card9 Deficiency 52 58
Invasive Candidiasis-Deep Dermatophytosis Syndrome 52 58
Candidiasis, Familial, 2, Autosomal Recessive 56 29
Familial Chronic Mucocutaneous Candidiasis 52 71
Card9 Immunodeficiency 56 73
Candf2 56 73
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 56
Autosomal Recessive Candidiasis Familial Chronic Mucocutaneous 52
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive 73
Candidiasis, Familial, Type 2 39
Card9 Deficiency 52

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
candidiasis, familial, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 212050
OMIM Phenotypic Series 56 PS114580
MeSH 43 D002178
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA457088
MedGen 41 C1859353
UMLS 71 C0341024 C1859353

Summaries for Candidiasis, Familial, 2

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 457088 Definition A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes , and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy. Visit the Orphanet disease page for more resources.

MalaCards based summary : Candidiasis, Familial, 2, also known as predisposition to invasive fungal disease due to card9 deficiency, is related to candidiasis, familial, 8 and candidiasis, familial, 1. An important gene associated with Candidiasis, Familial, 2 is CARD9 (Caspase Recruitment Domain Family Member 9). Affiliated tissues include skin, lymph node and brain, and related phenotypes are meningitis and chronic oral candidiasis

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 212050 PS114580

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

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

(showing 43, show less)
# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 8 11.8
2 candidiasis, familial, 1 11.8
3 immunodeficiency 51 11.7
4 candidiasis, familial, 4 11.3
5 candidiasis 10.3
6 meningoencephalitis 10.3
7 aspergillosis 10.2
8 dermatophytosis 10.2
9 deep dermatophytosis 10.2
10 colitis 10.1
11 nodal marginal zone lymphoma 10.1
12 osteomyelitis 10.1
13 endophthalmitis 10.1
14 neurofibromatosis, type ii 10.0
15 hashimoto thyroiditis 10.0
16 keratitis, hereditary 10.0
17 macroglossia 10.0
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
19 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
21 bacterial infectious disease 10.0
22 intracranial aneurysm 10.0
23 glossitis 10.0
24 middle cerebral artery infarction 10.0
25 hemolytic anemia 10.0
26 thyroiditis 10.0
27 rosacea 10.0
28 bronchiectasis 10.0
29 aneurysm 10.0
30 polyendocrinopathy 10.0
31 invasive aspergillosis 10.0
32 autosomal recessive disease 10.0
33 neuroretinitis 10.0
34 panuveitis 10.0
35 neutropenia 10.0
36 diarrhea 10.0
37 phaeohyphomycosis 10.0
38 chronic mucocutaneous candidiasis 10.0
39 retinitis 10.0
40 b-cell lymphoma 10.0
41 mucormycosis 10.0
42 48,xyyy 10.0
43 candida glabrata 10.0

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



Diseases related to Candidiasis, Familial, 2

Symptoms & Phenotypes for Candidiasis, Familial, 2

Human phenotypes related to Candidiasis, Familial, 2:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 meningitis 31 occasional (7.5%) HP:0001287
2 chronic oral candidiasis 31 very rare (1%) HP:0009098
3 hypereosinophilia 31 very rare (1%) HP:0032061
4 decreased serum iron 31 very rare (1%) HP:0040303
5 increased circulating total ige level 31 very rare (1%) HP:0003212
6 deep dermatophytosis 31 very rare (1%) HP:0032515
7 immunodeficiency 31 HP:0002721
8 abnormality of blood and blood-forming tissues 31 HP:0001871
9 lymphadenopathy 31 HP:0002716
10 onychomycosis 31 HP:0012203
11 chronic tinea infection 31 HP:0032259

Symptoms via clinical synopsis from OMIM:

56
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

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 Candidiasis, Familial, 2, Autosomal Recessive 29

Anatomical Context for Candidiasis, Familial, 2

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

40
Skin, Lymph Node, Brain, Neutrophil, Bone, Thyroid, T Cells

Publications for Candidiasis, Familial, 2

Articles related to Candidiasis, Familial, 2:

(showing 7, show less)
# Title Authors PMID Year
1
Deep dermatophytosis and inherited CARD9 deficiency. 56 6
24131138 2013
2
Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. 56 6
23335372 2013
3
A homozygous CARD9 mutation in a family with susceptibility to fungal infections. 56 6
19864672 2009
4
[Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns]. 56 6
9835960 1998
5
Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection. 56
8160723 1994
6
Familial chronic muco-cutaneous candidiasis. 56
4562433 1972
7
Novel bi-allelic splice mutations in CARD9 causing adult-onset Candida endophthalmitis. 61
28984994 2018

Variations for Candidiasis, Familial, 2

ClinVar genetic disease variations for Candidiasis, Familial, 2:

6 (showing 53, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARD9 NM_052813.4(CARD9):c.883C>T (p.Gln295Ter)SNV Pathogenic 3406 rs121918338 9:139264814-139264814 9:136370362-136370362
2 CARD9 NM_052813.4(CARD9):c.214G>A (p.Gly72Ser)SNV Pathogenic 88850 rs398122362 9:139265884-139265884 9:136371432-136371432
3 CARD9 NM_052813.4(CARD9):c.1118G>C (p.Arg373Pro)SNV Pathogenic 88851 rs149712114 9:139262240-139262240 9:136367788-136367788
4 CARD9 NM_052813.4(CARD9):c.865C>T (p.Gln289Ter)SNV Pathogenic 88852 rs398122363 9:139264832-139264832 9:136370380-136370380
5 CARD9 NM_052813.4(CARD9):c.301C>T (p.Arg101Cys)SNV Pathogenic 88853 rs398122364 9:139265797-139265797 9:136371345-136371345
6 CARD9 NC_000009.11:g.(?_139258557)_(139266550_?)deldeletion Pathogenic 535824 9:139258557-139266550 9:136364105-136372098
7 CARD9 NM_052813.4(CARD9):c.1351_1354del (p.Asp451fs)deletion Pathogenic 575157 rs746470735 9:139261255-139261258 9:136366803-136366806
8 CARD9 NM_052813.4(CARD9):c.1289dup (p.Ser431fs)duplication Pathogenic 567137 rs1564367364 9:139261689-139261690 9:136367237-136367238
9 CARD9 NM_052813.4(CARD9):c.809A>T (p.Glu270Val)SNV Conflicting interpretations of pathogenicity 365844 rs114895119 9:139264888-139264888 9:136370436-136370436
10 CARD9 NM_052814.4(CARD9):c.1312-13CT[2]short repeat Conflicting interpretations of pathogenicity 535819 rs770532797 9:139261305-139261306 9:136366853-136366854
11 CARD9 NM_052813.4(CARD9):c.976G>C (p.Glu326Gln)SNV Uncertain significance 535811 rs143669690 9:139264303-139264303 9:136369851-136369851
12 CARD9 NM_052813.4(CARD9):c.851A>C (p.Glu284Ala)SNV Uncertain significance 535812 rs138048592 9:139264846-139264846 9:136370394-136370394
13 CARD9 NM_052813.4(CARD9):c.1007C>T (p.Ser336Phe)SNV Uncertain significance 579320 rs189645633 9:139264272-139264272 9:136369820-136369820
14 CARD9 NM_052813.4(CARD9):c.683G>A (p.Arg228His)SNV Uncertain significance 568086 rs551482416 9:139265098-139265098 9:136370646-136370646
15 CARD9 NM_052813.4(CARD9):c.326C>T (p.Ala109Val)SNV Uncertain significance 578287 rs760681802 9:139265594-139265594 9:136371142-136371142
16 CARD9 NM_052813.4(CARD9):c.214G>T (p.Gly72Cys)SNV Uncertain significance 577364 rs398122362 9:139265884-139265884 9:136371432-136371432
17 CARD9 NM_052813.4(CARD9):c.757G>C (p.Glu253Gln)SNV Uncertain significance 580174 rs748703154 9:139265024-139265024 9:136370572-136370572
18 CARD9 NM_052813.4(CARD9):c.1571A>C (p.Asn524Thr)SNV Uncertain significance 535814 rs141310444 9:139258794-139258794 9:136364342-136364342
19 CARD9 NM_052813.4(CARD9):c.68C>T (p.Ser23Leu)SNV Uncertain significance 535813 rs775267971 9:139266463-139266463 9:136372011-136372011
20 CARD9 NM_052813.4(CARD9):c.1393T>C (p.Phe465Leu)SNV Uncertain significance 365832 rs373635926 9:139259634-139259634 9:136365182-136365182
21 CARD9 NM_052813.4(CARD9):c.1382C>T (p.Pro461Leu)SNV Uncertain significance 365834 rs774571551 9:139259645-139259645 9:136365193-136365193
22 CARD9 NM_052813.4(CARD9):c.511G>A (p.Gly171Ser)SNV Uncertain significance 365850 rs140508365 9:139265409-139265409 9:136370957-136370957
23 CARD9 NM_052813.4(CARD9):c.463C>T (p.Arg155Cys)SNV Uncertain significance 467798 rs199947855 9:139265457-139265457 9:136371005-136371005
24 CARD9 NM_052813.4(CARD9):c.1096G>A (p.Glu366Lys)SNV Uncertain significance 467795 rs146829177 9:139262262-139262262 9:136367810-136367810
25 CARD9 NM_052813.4(CARD9):c.1121G>A (p.Gly374Asp)SNV Uncertain significance 580153 rs777420944 9:139262237-139262237 9:136367785-136367785
26 CARD9 NM_052813.4(CARD9):c.1114G>A (p.Ala372Thr)SNV Uncertain significance 572565 rs145574224 9:139262244-139262244 9:136367792-136367792
27 CARD9 NM_052813.4(CARD9):c.550G>A (p.Asp184Asn)SNV Uncertain significance 578727 rs374298700 9:139265370-139265370 9:136370918-136370918
28 CARD9 NM_052813.4(CARD9):c.1609T>C (p.Ter537Gln)SNV Uncertain significance 632538 rs1405807688 9:139258756-139258756 9:136364304-136364304
29 CARD9 NM_052813.4(CARD9):c.1277A>G (p.Asp426Gly)SNV Uncertain significance 654256 9:139261702-139261702 9:136367250-136367250
30 CARD9 NM_052813.4(CARD9):c.1567G>C (p.Glu523Gln)SNV Uncertain significance 646780 9:139258798-139258798 9:136364346-136364346
31 CARD9 NM_052813.4(CARD9):c.1433A>G (p.His478Arg)SNV Uncertain significance 661511 9:139259594-139259594 9:136365142-136365142
32 CARD9 NM_052813.4(CARD9):c.1105G>A (p.Ala369Thr)SNV Uncertain significance 666017 9:139262253-139262253 9:136367801-136367801
33 CARD9 NM_052813.4(CARD9):c.1090C>T (p.Arg364Trp)SNV Uncertain significance 661309 9:139262268-139262268 9:136367816-136367816
34 CARD9 NM_052813.4(CARD9):c.868G>T (p.Ala290Ser)SNV Uncertain significance 660528 9:139264829-139264829 9:136370377-136370377
35 CARD9 NM_052813.4(CARD9):c.861G>T (p.Trp287Cys)SNV Uncertain significance 645815 9:139264836-139264836 9:136370384-136370384
36 CARD9 NM_052813.4(CARD9):c.779G>A (p.Arg260Gln)SNV Uncertain significance 642602 9:139265002-139265002 9:136370550-136370550
37 CARD9 NM_052813.4(CARD9):c.582G>C (p.Glu194Asp)SNV Uncertain significance 665275 9:139265338-139265338 9:136370886-136370886
38 CARD9 NM_052813.4(CARD9):c.560T>C (p.Met187Thr)SNV Uncertain significance 661246 9:139265360-139265360 9:136370908-136370908
39 CARD9 NM_052813.4(CARD9):c.479G>A (p.Arg160His)SNV Uncertain significance 646086 9:139265441-139265441 9:136370989-136370989
40 CARD9 NM_052813.4(CARD9):c.455G>A (p.Ser152Asn)SNV Uncertain significance 653957 9:139265465-139265465 9:136371013-136371013
41 CARD9 NM_052813.4(CARD9):c.443G>A (p.Arg148Gln)SNV Uncertain significance 665585 9:139265477-139265477 9:136371025-136371025
42 CARD9 NM_052813.4(CARD9):c.223G>A (p.Gly75Ser)SNV Uncertain significance 651672 9:139265875-139265875 9:136371423-136371423
43 CARD9 NM_052813.4(CARD9):c.25G>A (p.Glu9Lys)SNV Uncertain significance 665944 9:139266506-139266506 9:136372054-136372054
44 CARD9 NM_052814.4(CARD9):c.951+10_951+17deldeletion Likely benign 467799 rs147386417 9:139264729-139264736 9:136370277-136370284
45 CARD9 NM_052813.4(CARD9):c.1359C>A (p.Gly453=)SNV Likely benign 535822 rs1489024588 9:139259668-139259668 9:136365216-136365216
46 CARD9 NM_052813.4(CARD9):c.960G>A (p.Glu320=)SNV Likely benign 535815 rs148158774 9:139264319-139264319 9:136369867-136369867
47 CARD9 NM_052813.4(CARD9):c.432C>T (p.Ile144=)SNV Likely benign 467797 rs1274150394 9:139265488-139265488 9:136371036-136371036
48 CARD9 NM_052813.4(CARD9):c.1479G>A (p.Arg493=)SNV Likely benign 535821 rs368839062 9:139258967-139258967 9:136364515-136364515
49 CARD9 NM_052813.4(CARD9):c.1452C>T (p.Ser484=)SNV Likely benign 535817 rs758540382 9:139258994-139258994 9:136364542-136364542
50 CARD9 NM_052813.4(CARD9):c.185-4G>ASNV Likely benign 535823 rs536158625 9:139265917-139265917 9:136371465-136371465
51 CARD9 NM_052813.4(CARD9):c.693G>A (p.Thr231=)SNV Benign/Likely benign 365848 rs59902911 9:139265088-139265088 9:136370636-136370636
52 CARD9 NM_052813.4(CARD9):c.1153G>C (p.Val385Leu)SNV Benign/Likely benign 365838 rs3124993 9:139262205-139262205 9:136367753-136367753
53 CARD9 NM_052813.4(CARD9):c.297G>A (p.Pro99=)SNV Benign 365853 rs115131813 9:139265801-139265801 9:136371349-136371349

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

73 (showing 3, show less)
# 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

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

Sources for Candidiasis, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....