MCID: CND025
MIFTS: 24

Candidiasis, Familial, 8 malady

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

Aliases & Classifications for Candidiasis, Familial, 8

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Aliases & Descriptions for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 51 69 67
Candidiasis, Familial 8 24 26
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 69
 
Candidiasis, Familial Chronic Mucocutaneous 24
Candf8 69

Characteristics:

HPO:

63
candidiasis, familial, 8:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 615527
MeSH38 D002178

Summaries for Candidiasis, Familial, 8

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UniProtKB/Swiss-Prot:69 Candidiasis, familial, 8: 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, 8, also known as candidiasis, familial 8, is related to candidiasis, familial, 4, autosomal recessive and candidiasis, familial, 6, autosomal dominant, and has symptoms including macroglossia, blepharitis and onychomycosis. An important gene associated with Candidiasis, Familial, 8 is TRAF3IP2 (TRAF3 Interacting Protein 2). Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and respiratory system.

OMIM:51 Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral... (615527) more...

Related Diseases for Candidiasis, Familial, 8

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Graphical network of diseases related to Candidiasis, Familial, 8:



Diseases related to candidiasis, familial, 8

Symptoms for Candidiasis, Familial, 8

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Symptoms by clinical synopsis from OMIM:

615527

Clinical features from OMIM:

615527

Human phenotypes related to Candidiasis, Familial, 8:

 63
id Description HPO Frequency HPO Source Accession
1 macroglossia63 HP:0000158
2 blepharitis63 HP:0000498
3 onychomycosis63 HP:0012203

Drugs & Therapeutics for Candidiasis, Familial, 8

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Candidiasis, Familial, 8

Genetic Tests for Candidiasis, Familial, 8

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Genetic tests related to Candidiasis, Familial, 8:

id Genetic test Affiliating Genes
1 Candidiasis, Familial, 826
2 Candidiasis, Familial 824 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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MalaCards organs/tissues related to Candidiasis, Familial, 8:

35
Skin

Animal Models for Candidiasis, Familial, 8 or affiliated genes

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MGI Mouse Phenotypes related to Candidiasis, Familial, 8:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.8CLEC7A, TRAF3IP2
2MP:00053889.1CLEC7A, TRAF3IP2

Publications for Candidiasis, Familial, 8

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Variations for Candidiasis, Familial, 8

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UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 8:

69
id Symbol AA change Variation ID SNP ID
1TRAF3IP2p.Thr536IleVAR_070904rs397518485

Clinvar genetic disease variations for Candidiasis, Familial, 8:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CLEC7ANM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter)SNVPathogenic, risk factorrs16910526GRCh37Chr 12, 10271087: 10271087
2TRAF3IP2NM_147686.3(TRAF3IP2): c.1580C> T (p.Thr527Ile)SNVPathogenicrs397518485GRCh37Chr 6, 111880726: 111880726

Expression for genes affiliated with Candidiasis, Familial, 8

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Search GEO for disease gene expression data for Candidiasis, Familial, 8.

Pathways for genes affiliated with Candidiasis, Familial, 8

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GO Terms for genes affiliated with Candidiasis, Familial, 8

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Sources for Candidiasis, Familial, 8

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet