MCID: CND026
MIFTS: 25

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 50
Candidiasis, Familial, 2 50 68 66
Familial Chronic Mucocutaneous Candidiasis 46 66
Familial Candidiasis 2 23 25
Candf2 23 68
Predisposition to Invasive Fungal Disease Due to Card9 Deficiency 52
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive 46
 
Familial Chronic Mucocutaneous Candidiasis, Autosomal Recessive 23
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive 68
Invasive Candidiasis-Deep Dermatophytosis Syndrome 52
Candidiasis Familial Chronic Mucocutaneous 25
Card9 Immunodeficiency 68
Card9 Deficiency 46

Characteristics:

Orphanet epidemiological data:

52

HPO:

62
candidiasis, familial, 2, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 212050
Orphanet52 ORPHA457088
ICD10 via Orphanet29 D84.8
MedGen35 C1859353
MeSH37 D002178

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

About this section
UniProtKB/Swiss-Prot:68 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). Affiliated tissues include skin.

Description from OMIM:50 212050

Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Diseases in the Candidiasis family:

Candidiasis, Familial, 9 Candidiasis, Familial, 6, Autosomal Dominant
Candidiasis, Familial, 8 candidiasis, familial, 2, autosomal recessive
Candidiasis, Familial, 3 Candidiasis, Familial, 4, Autosomal Recessive
Candidiasis, Familial, 5, Autosomal Recessive

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

idRelated DiseaseScoreTop Affiliating Genes
1candidiasis, familial, 811.3
2candidiasis, familial, 5, autosomal recessive11.3
3candidiasis, familial, 6, autosomal dominant11.3
4colitis9.9
5meningoencephalitis9.9
6candidiasis9.9
7dermatophytosis9.9
8deep dermatophytosis9.9

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



Diseases related to candidiasis, familial, 2, autosomal recessive

Symptoms for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

212050

Clinical features from OMIM:

212050

HPO human phenotypes related to Candidiasis, Familial, 2, Autosomal Recessive:

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

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, 225
2 Familial Chronic Mucocutaneous Candidiasis25
3 Familial Candidiasis 223 CARD9

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

About this section

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

34
Skin

Animal Models for Candidiasis, Familial, 2, Autosomal Recessive or affiliated genes

About this section

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:

68
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)single nucleotide variantPathogenicrs121918338GRCh37Chr 9, 139264814: 139264814
2CARD9NM_052813.4(CARD9): c.214G> A (p.Gly72Ser)single nucleotide variantPathogenicrs398122362GRCh37Chr 9, 139265884: 139265884
3CARD9NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro)single nucleotide variantPathogenicrs149712114GRCh37Chr 9, 139262240: 139262240
4CARD9NM_052813.4(CARD9): c.865C> T (p.Gln289Ter)single nucleotide variantPathogenicrs398122363GRCh37Chr 9, 139264832: 139264832
5CARD9NM_052813.4(CARD9): c.301C> T (p.Arg101Cys)single nucleotide variantPathogenicrs398122364GRCh37Chr 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

Sources for Candidiasis, Familial, 2, Autosomal Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet