MCID: CND025
MIFTS: 13

Candidiasis, Familial, 8 malady

Genetic diseases, Rare diseases, Infectious diseases, Skin diseases, Blood diseases categories

Summaries for Candidiasis, Familial, 8

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OMIM:46 Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral... (615527) more...

MalaCards based summary: Candidiasis, Familial, 8 and has symptoms including autosomal recessive inheritance, macroglossia and blepharitis. An important gene associated with Candidiasis, Familial, 8 is TRAF3IP2 (TRAF3 interacting protein 2). Affiliated tissues include skin.

Aliases & Classifications for Candidiasis, Familial, 8

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Candidiasis, Familial, 8, Aliases & Descriptions:

Name: Candidiasis, Familial, 8 46


Classifications:



Related Diseases for Candidiasis, Familial, 8

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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 autosomal recessive inheritance HP:0000007
2 macroglossia HP:0000158
3 blepharitis HP:0000498
4 onychomycosis HP:0012203

Drugs & Therapeutics for Candidiasis, Familial, 8

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Drug clinical trials:

Search ClinicalTrials for Candidiasis, Familial, 8

Search NIH Clinical Center for Candidiasis, Familial, 8

Genetic Tests for Candidiasis, Familial, 8

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Anatomical Context for Candidiasis, Familial, 8

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

32
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:

63
id Symbol AA change Variation ID SNP ID
1TRAF3IP2p.Thr536IleVAR_070904

Expression for genes affiliated with Candidiasis, Familial, 8

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Expression patterns in normal tissues for genes affiliated with Candidiasis, Familial, 8

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

Pathways for genes affiliated with Candidiasis, Familial, 8

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Compounds for genes affiliated with Candidiasis, Familial, 8

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GO Terms for genes affiliated with Candidiasis, Familial, 8

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Products for genes affiliated with Candidiasis, Familial, 8

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Candidiasis, Familial, 8

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet