MCID: CND026
MIFTS: 24

Candidiasis, Familial, 2, Autosomal Recessive malady

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

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

Characteristics:

HPO:

61
candidiasis, familial, 2, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 212050
MedGen34 C1859353
MeSH36 D002178
UMLS65 C0341024, C1859353

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, 2, is related to candidiasis, familial, 8 and candidiasis, familial, 5, autosomal recessive, and has symptoms including meningitis, onychomycosis and chronic oral candidiasis. An important gene associated with Candidiasis, Familial, 2, Autosomal Recessive is CARD9 (Caspase Recruitment Domain Family Member 9). Affiliated tissues include skin and lung.

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:

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

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

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

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Interventional clinical trials:

Search ClinicalTrials, 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

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

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

33
Skin, Lung

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