MCID: CND025
MIFTS: 22

Candidiasis, Familial, 8

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

Aliases & Classifications for Candidiasis, Familial, 8

MalaCards integrated aliases for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 57 75 29 6 73
Candf8 57 75
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 57
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 75
Candidiasis, Familial, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615527
MeSH 44 D002178
UMLS 73 C3714992

Summaries for Candidiasis, Familial, 8

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Candidiasis, Familial, 8 is TRAF3IP2 (TRAF3 Interacting Protein 2). Affiliated tissues include skin, and related phenotypes are macroglossia and blepharitis

OMIM : 57 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 11.3

Symptoms & Phenotypes for Candidiasis, Familial, 8

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 blepharitis 32 HP:0000498
3 onychomycosis 32 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 29 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

41
Skin

Publications for Candidiasis, Familial, 8

Variations for Candidiasis, Familial, 8

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

75
# Symbol AA change Variation ID SNP ID
1 TRAF3IP2 p.Thr536Ile VAR_070904 rs397518485

ClinVar genetic disease variations for Candidiasis, Familial, 8:

6
(show all 24)
# 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
2 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1580C> T (p.Thr527Ile) single nucleotide variant Pathogenic rs397518485 GRCh38 Chromosome 6, 111559523: 111559523
3 TRAF3IP2 NM_147686.3(TRAF3IP2): c.233G> A (p.Arg78Gln) single nucleotide variant Uncertain significance rs973361796 GRCh37 Chromosome 6, 111913057: 111913057
4 TRAF3IP2 NM_147686.3(TRAF3IP2): c.233G> A (p.Arg78Gln) single nucleotide variant Uncertain significance rs973361796 GRCh38 Chromosome 6, 111591854: 111591854
5 TRAF3IP2 NM_147686.3(TRAF3IP2): c.649C> A (p.Pro217Thr) single nucleotide variant Benign rs139282334 GRCh37 Chromosome 6, 111912641: 111912641
6 TRAF3IP2 NM_147686.3(TRAF3IP2): c.649C> A (p.Pro217Thr) single nucleotide variant Benign rs139282334 GRCh38 Chromosome 6, 111591438: 111591438
7 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1614C> T (p.Asn538=) single nucleotide variant Benign rs186097801 GRCh37 Chromosome 6, 111880692: 111880692
8 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1614C> T (p.Asn538=) single nucleotide variant Benign rs186097801 GRCh38 Chromosome 6, 111559489: 111559489
9 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1377C> T (p.Ile459=) single nucleotide variant Likely benign rs371382152 GRCh38 Chromosome 6, 111566543: 111566543
10 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1377C> T (p.Ile459=) single nucleotide variant Likely benign rs371382152 GRCh37 Chromosome 6, 111887746: 111887746
11 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1184A> G (p.Asn395Ser) single nucleotide variant Likely benign rs139767840 GRCh37 Chromosome 6, 111896863: 111896863
12 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1184A> G (p.Asn395Ser) single nucleotide variant Likely benign rs139767840 GRCh38 Chromosome 6, 111575660: 111575660
13 TRAF3IP2 NM_147686.3(TRAF3IP2): c.281G> A (p.Ser94Asn) single nucleotide variant Benign rs61756667 GRCh37 Chromosome 6, 111913009: 111913009
14 TRAF3IP2 NM_147686.3(TRAF3IP2): c.281G> A (p.Ser94Asn) single nucleotide variant Benign rs61756667 GRCh38 Chromosome 6, 111591806: 111591806
15 TRAF3IP2 NM_147686.3(TRAF3IP2): c.957C> A (p.Ser319Arg) single nucleotide variant Benign rs146226365 GRCh38 Chromosome 6, 111580262: 111580262
16 TRAF3IP2 NM_147686.3(TRAF3IP2): c.957C> A (p.Ser319Arg) single nucleotide variant Benign rs146226365 GRCh37 Chromosome 6, 111901465: 111901465
17 TRAF3IP2 NM_147686.3(TRAF3IP2): c.508T> A (p.Ser170Thr) single nucleotide variant Likely benign rs559852757 GRCh38 Chromosome 6, 111591579: 111591579
18 TRAF3IP2 NM_147686.3(TRAF3IP2): c.508T> A (p.Ser170Thr) single nucleotide variant Likely benign rs559852757 GRCh37 Chromosome 6, 111912782: 111912782
19 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1249A> G (p.Lys417Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111894139: 111894139
20 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1249A> G (p.Lys417Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111572936: 111572936
21 TRAF3IP2 NM_147686.3(TRAF3IP2): c.758C> G (p.Pro253Arg) single nucleotide variant Uncertain significance rs146627823 GRCh38 Chromosome 6, 111591329: 111591329
22 TRAF3IP2 NM_147686.3(TRAF3IP2): c.758C> G (p.Pro253Arg) single nucleotide variant Uncertain significance rs146627823 GRCh37 Chromosome 6, 111912532: 111912532
23 TRAF3IP2 NM_147686.3(TRAF3IP2): c.102_104dup (p.Pro35_Ala36insPro) duplication Benign GRCh37 Chromosome 6, 111913186: 111913188
24 TRAF3IP2 NM_147686.3(TRAF3IP2): c.102_104dup (p.Pro35_Ala36insPro) duplication Benign GRCh38 Chromosome 6, 111591983: 111591985

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

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