MCID: CND025
MIFTS: 13

Candidiasis, Familial, 8 malady

Genetic diseases, Rare diseases, Immune diseases, Infectious diseases categories

Summaries for Candidiasis, Familial, 8

About this section


OMIM:45 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

About this section

Candidiasis, Familial, 8, Aliases & Descriptions:

Name: Candidiasis, Familial, 8 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Infectious diseases
Anatomical: Immune diseases


External Ids:

OMIM45 615527

Related Diseases for Candidiasis, Familial, 8

About this section

Symptoms for Candidiasis, Familial, 8

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Candidiasis, Familial, 8

Search NIH Clinical Center for Candidiasis, Familial, 8

Genetic Tests for Candidiasis, Familial, 8

About this section

Anatomical Context for Candidiasis, Familial, 8

About this section

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

31
Skin

Animal Models for Candidiasis, Familial, 8 or affiliated genes

About this section

Publications for Candidiasis, Familial, 8

About this section

Variations for Candidiasis, Familial, 8

About this section

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

62
id Symbol AA change Variation ID SNP ID
1TRAF3IP2p.Thr536IleVAR_070904

Expression for genes affiliated with Candidiasis, Familial, 8

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

Pathways for genes affiliated with Candidiasis, Familial, 8

About this section

Compounds for genes affiliated with Candidiasis, Familial, 8

About this section

GO Terms for genes affiliated with Candidiasis, Familial, 8

About this section

Products for genes affiliated with Candidiasis, Familial, 8

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Candidiasis, Familial, 8

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet