MCID: CND025
MIFTS: 21

Candidiasis, Familial, 8

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

Aliases & Classifications for Candidiasis, Familial, 8

MalaCards integrated aliases for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 53 71 28 69
Candf8 53 71
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 53
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 615527
MeSH 41 D002178
UMLS 69 C3714992

Summaries for Candidiasis, Familial, 8

UniProtKB/Swiss-Prot : 71 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 candf8, is related to candidiasis, familial, 2 and immunodeficiency 51, 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 : 53 Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013). For a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (114580). (615527)

Related Diseases for Candidiasis, Familial, 8

Diseases in the Candidiasis family:

Candidiasis, Familial, 1 Candidiasis, Familial, 2
Candidiasis, Familial, 3 Candidiasis, Familial, 4
Candidiasis, Familial, 6 Candidiasis, Familial, 8
Candidiasis, Familial, 9 Familial Candidiasis

Diseases related to Candidiasis, Familial, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 2 11.5
2 immunodeficiency 51 11.4

Symptoms & Phenotypes for Candidiasis, Familial, 8

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
folliculitis decalvans

Head And Neck Mouth:
oral candidiasis
macrocheilitis
macroglossia

Skin Nails Hair Nails:
onychomycosis

Immunology:
immunologic evaluation unremarkable

Head And Neck Eyes:
blepharitis

Skin Nails Hair Skin:
seborrheic dermatitis in infancy

Skin Nails Hair Hair:
folliculitis decalvans


Clinical features from OMIM:

615527

Human phenotypes related to Candidiasis, Familial, 8:

31
# Description HPO Frequency HPO Source Accession
1 macroglossia 31 HP:0000158
2 blepharitis 31 HP:0000498
3 onychomycosis 31 HP:0012203

Drugs & Therapeutics for Candidiasis, Familial, 8

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 8

Genetic Tests for Candidiasis, Familial, 8

Genetic tests related to Candidiasis, Familial, 8:

# Genetic test Affiliating Genes
1 Candidiasis, Familial, 8 28 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

38
Skin

Publications for Candidiasis, Familial, 8

Variations for Candidiasis, Familial, 8

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

71
# Symbol AA change Variation ID SNP ID
1 TRAF3IP2 p.Thr536Ile VAR_070904 rs397518485

ClinVar genetic disease variations for Candidiasis, Familial, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1580C> T (p.Thr527Ile) single nucleotide variant Pathogenic rs397518485 GRCh37 Chromosome 6, 111880726: 111880726

Expression for Candidiasis, Familial, 8

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

Pathways for Candidiasis, Familial, 8

GO Terms for Candidiasis, Familial, 8

Sources for Candidiasis, Familial, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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