MCID: CND026
MIFTS: 20

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 46
Candidiasis, Familial, 2 46 20 22
Familial Chronic Mucocutaneous Candidiasis 42 61
 
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive 42
Card9 Deficiency 42


Classifications:



External Ids:

OMIM46 212050

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

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MalaCards based summary: Candidiasis, Familial, 2, Autosomal Recessive, also known as candidiasis, familial, 2, is related to chronic mucocutaneous candidiasis and candidiasis, 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).

Description from OMIM:46 212050

Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

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Diseases in the Candidiasis family:

Candidiasis, Familial, 8 Candidiasis, Familial, 3
Candidiasis, Familial, 6, Autosomal Dominant candidiasis, familial, 2, autosomal recessive
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
1chronic mucocutaneous candidiasis10.6
2candidiasis10.6
3acne10.3
4rosacea10.3
5intracranial aneurysm10.3
6aneurysm10.3
7meningoencephalitis10.1
8colitis10.1
9dermatophytosis10.1
10deep dermatophytosis10.1

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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Drug clinical trials:

Search ClinicalTrials for Candidiasis, Familial, 2, Autosomal Recessive

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 220 CARD9
2 Candidiasis, Familial, 222

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

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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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet