MCID: CND026
MIFTS: 12

Candidiasis, Familial, 2, Autosomal Recessive malady

Genetic diseases, Rare diseases, Infectious diseases, Skin diseases, Blood diseases categories

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

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MalaCards based summary: Candidiasis, Familial, 2, 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).

Description from OMIM:46 212050

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

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

Name: Candidiasis, Familial, 2, Autosomal Recessive 46


Classifications:



Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

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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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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:

7
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Candidiasis, Familial, 2, Autosomal Recessive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet