MCID: CND025
MIFTS: 22

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 50 68
Candidiasis, Familial 8 23 25
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 68
 
Candidiasis, Familial Chronic Mucocutaneous 23
Candf8 68

Characteristics:

HPO:

62
candidiasis, familial, 8:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 615527
MeSH37 D002178

Summaries for Candidiasis, Familial, 8

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UniProtKB/Swiss-Prot:68 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, 2, 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.

OMIM:50 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

HPO human phenotypes related to Candidiasis, Familial, 8:

id Description Frequency HPO Source Accession
1 macroglossia HP:0000158
2 blepharitis HP:0000498
3 onychomycosis 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, 825
2 Candidiasis, Familial 823 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

34
Skin

Animal Models for Candidiasis, Familial, 8 or affiliated genes

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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:

68
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
1NM_147686.3(TRAF3IP2): c.1580C> T (p.Thr527Ile)single nucleotide variantPathogenicrs397518485GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet