MCID: CND025
MIFTS: 23

Candidiasis, Familial, 8 malady

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

Aliases & Classifications for Candidiasis, Familial, 8

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Aliases & Descriptions for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 49 67 65
Candidiasis, Familial 8 22 24
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 67
 
Candidiasis, Familial Chronic Mucocutaneous 22
Familial Chronic Mucocutaneous Candidiasis 65
Candf8 67

Characteristics:

HPO:

61
candidiasis, familial, 8:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 615527
MeSH36 D002178
UMLS65 C0341024, C3714992

Summaries for Candidiasis, Familial, 8

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UniProtKB/Swiss-Prot:67 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:49 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 822 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1TRAF3IP2p.Thr536IleVAR_070904

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
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