MCID: CND026
MIFTS: 25

Candidiasis, Familial, 2, Autosomal Recessive malady

Genetic diseases, Rare diseases, Immune diseases, Infectious diseases categories

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

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

Name: Candidiasis, Familial, 2, Autosomal Recessive 49
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive 45 22
Familial Chronic Mucocutaneous Candidiasis 45 65
Familial Candidiasis 2 22 24
Candf2 22 67
 
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive 67
Candidiasis, Familial, 2 67
Card9 Immunodeficiency 67
Card9 Deficiency 45


Classifications:



External Ids:

OMIM49 212050
MedGen34 C1859353
MeSH36 D002178

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

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UniProtKB/Swiss-Prot:67 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 chronic mucocutaneous, autosomal recessive, is related to chronic mucocutaneous candidiasis and candidiasis, familial, 5, autosomal recessive, and has symptoms including meningitis, autosomal recessive inheritance and abnormality of the nail. 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:49 212050

Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

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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:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1chronic mucocutaneous candidiasis10.6
2candidiasis, familial, 5, autosomal recessive10.6
3candidiasis, familial, 810.4
4candidiasis, familial, 4, autosomal recessive10.3
5acne10.3
6rosacea10.3
7intracranial aneurysm10.3
8aneurysm10.3
9meningoencephalitis10.2
10candidiasis10.2
11colitis10.2
12dermatophytosis10.2
13deep dermatophytosis10.2

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

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Symptoms by clinical synopsis from OMIM:

212050

Clinical features from OMIM:

212050

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

(show all 7)
id Description Frequency HPO Source Accession
1 meningitis rare (5%) HP:0001287
2 autosomal recessive inheritance HP:0000007
3 abnormality of the nail HP:0001597
4 abnormality of blood and blood-forming tissues HP:0001871
5 immunodeficiency HP:0002721
6 chronic oral candidiasis HP:0009098
7 onychomycosis HP:0012203

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

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Drugs for Candidiasis, Familial, 2, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 11514174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rituximab for Anti-cytokine Autoantibody-Associated DiseasesRecruitingNCT01842386Phase 1
2Studies of Disorders With Increased Susceptibility to Fungal InfectionsRecruitingNCT01222741

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

Genetic Tests for Candidiasis, Familial, 2, Autosomal Recessive

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

id Genetic test Affiliating Genes
1 Familial Candidiasis 222 CARD9
2 Candidiasis, Familial, 224

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

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

33
Skin

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

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Publications for Candidiasis, Familial, 2, Autosomal Recessive

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Variations for Candidiasis, Familial, 2, Autosomal Recessive

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

67
id Symbol AA change Variation ID SNP ID
1CARD9p.Gly72SerVAR_070828
2CARD9p.Arg101CysVAR_070829
3CARD9p.Arg373ProVAR_070830

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

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

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

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

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Sources for Candidiasis, Familial, 2, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet