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 52 70 68
Candidiasis, Familial 8 24 27
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 70
 
Candidiasis, Familial Chronic Mucocutaneous 24
Candf8 70

Characteristics:

HPO:

64
candidiasis, familial, 8:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 615527
MeSH39 D002178

Summaries for Candidiasis, Familial, 8

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 macroglossia64 HP:0000158
2 blepharitis64 HP:0000498
3 onychomycosis64 HP:0012203

MGI Mouse Phenotypes related to Candidiasis, Familial, 8 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.8CLEC7A, TRAF3IP2
2MP:00053889.1CLEC7A, TRAF3IP2

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, 827
2 Candidiasis, Familial 824 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

36
Skin

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet