MCID: CND026
MIFTS: 30

Candidiasis, Familial, 2, Autosomal Recessive malady

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

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

About this section

Aliases & Descriptions for Candidiasis, Familial, 2, Autosomal Recessive:

Name: Candidiasis, Familial, 2, Autosomal Recessive 52
Candidiasis, Familial, 2 52 70 68
Familial Chronic Mucocutaneous Candidiasis 48 68
Familial Candidiasis 2 24 27
Candf2 24 70
Predisposition to Invasive Fungal Disease Due to Card9 Deficiency 54
 
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive 48
Familial Chronic Mucocutaneous Candidiasis, Autosomal Recessive 24
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive 70
Invasive Candidiasis-Deep Dermatophytosis Syndrome 54
Card9 Immunodeficiency 70
Card9 Deficiency 48

Characteristics:

Orphanet epidemiological data:

54

HPO:

64
candidiasis, familial, 2, autosomal recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 212050
Orphanet54 ORPHA457088
ICD10 via Orphanet31 D84.8
MedGen37 C1859353
MeSH39 D002178

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

About this section
UniProtKB/Swiss-Prot:70 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, 8 and candidiasis, familial, 5, autosomal recessive, and has symptoms including meningitis, abnormality of the nail and abnormality of blood and blood-forming tissues. An important gene associated with Candidiasis, Familial, 2, Autosomal Recessive is CARD9 (Caspase Recruitment Domain Family Member 9), and among its related pathways are Toll-Like receptor Signaling Pathways and NF-kappaB Signaling. Affiliated tissues include skin, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

Description from OMIM:52 212050

Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

About this section

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



Diseases related to candidiasis, familial, 2, autosomal recessive

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

About this section

Symptoms by clinical synopsis from OMIM:

212050

Clinical features from OMIM:

212050

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

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 meningitis64 rare (5%) HP:0001287
2 abnormality of the nail64 HP:0001597
3 abnormality of blood and blood-forming tissues64 HP:0001871
4 immunodeficiency64 HP:0002721
5 chronic oral candidiasis64 HP:0009098
6 onychomycosis64 HP:0012203

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.1CARD9, CLEC7A

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

About this section

Interventional clinical trials:

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

Genetic Tests for Candidiasis, Familial, 2, Autosomal Recessive

About this section

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

id Genetic test Affiliating Genes
1 Candidiasis, Familial, 227
2 Familial Candidiasis 224 CARD9

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

About this section

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

36
Skin

Publications for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Variations for Candidiasis, Familial, 2, Autosomal Recessive

About this section

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

70
id Symbol AA change Variation ID SNP ID
1CARD9p.Gly72SerVAR_070828rs398122362
2CARD9p.Arg101CysVAR_070829rs398122364
3CARD9p.Arg373ProVAR_070830rs149712114

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CARD9NM_052813.4(CARD9): c.883C> T (p.Gln295Ter)SNVPathogenicrs121918338GRCh37Chr 9, 139264814: 139264814
2CLEC7ANM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter)SNVPathogenic, risk factorrs16910526GRCh37Chr 12, 10271087: 10271087
3CARD9NM_052813.4(CARD9): c.214G> A (p.Gly72Ser)SNVPathogenicrs398122362GRCh37Chr 9, 139265884: 139265884
4CARD9NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro)SNVPathogenicrs149712114GRCh37Chr 9, 139262240: 139262240
5CARD9NM_052813.4(CARD9): c.865C> T (p.Gln289Ter)SNVPathogenicrs398122363GRCh37Chr 9, 139264832: 139264832
6CARD9NM_052813.4(CARD9): c.301C> T (p.Arg101Cys)SNVPathogenicrs398122364GRCh37Chr 9, 139265797: 139265797

Expression for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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

Pathways for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

About this section

GO Terms for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

About this section

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

idNameGO IDScoreTop Affiliating Genes
1innate immune responseGO:00450879.7CARD9, CLEC7A
2stimulatory C-type lectin receptor signaling pathwayGO:00022239.1CARD9, CLEC7A

Sources for Candidiasis, Familial, 2, Autosomal Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet