CANDF8
MCID: CND025
MIFTS: 22

Candidiasis, Familial, 8 (CANDF8)

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

Aliases & Classifications for Candidiasis, Familial, 8

MalaCards integrated aliases for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 58 76 30 6 74
Candf8 58 76
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 58
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 76
Candidiasis, Familial, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615527
MeSH 45 D002178
UMLS 74 C3714992

Summaries for Candidiasis, Familial, 8

UniProtKB/Swiss-Prot : 76 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 : 58 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 11.7
2 immunodeficiency 51 11.5

Symptoms & Phenotypes for Candidiasis, Familial, 8

Human phenotypes related to Candidiasis, Familial, 8:

33
# Description HPO Frequency HPO Source Accession
1 macroglossia 33 HP:0000158
2 blepharitis 33 HP:0000498
3 onychomycosis 33 HP:0012203

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
macroglossia
oral candidiasis
macrocheilitis

Skin Nails Hair Nails:
onychomycosis

Skin Nails Hair Hair:
folliculitis decalvans

Immunology:
immunologic evaluation unremarkable

Head And Neck Eyes:
blepharitis

Head And Neck Head:
folliculitis decalvans

Skin Nails Hair Skin:
seborrheic dermatitis in infancy

Clinical features from OMIM:

615527

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 30 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

42
Skin

Publications for Candidiasis, Familial, 8

Variations for Candidiasis, Familial, 8

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

76
# 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 48)
# 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 GRCh38 Chromosome 6, 111591854: 111591854
4 TRAF3IP2 NM_147686.3(TRAF3IP2): c.233G> A (p.Arg78Gln) single nucleotide variant Uncertain significance rs973361796 GRCh37 Chromosome 6, 111913057: 111913057
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.1377C> T (p.Ile459=) single nucleotide variant Likely benign rs371382152 GRCh38 Chromosome 6, 111566543: 111566543
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.1614C> T (p.Asn538=) single nucleotide variant Benign rs186097801 GRCh37 Chromosome 6, 111880692: 111880692
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 rs1253864619 GRCh37 Chromosome 6, 111894139: 111894139
20 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1249A> G (p.Lys417Glu) single nucleotide variant Uncertain significance rs1253864619 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 rs142054894 GRCh38 Chromosome 6, 111591983: 111591985
24 TRAF3IP2 NM_147686.3(TRAF3IP2): c.102_104dup (p.Pro35_Ala36insPro) duplication Benign rs142054894 GRCh37 Chromosome 6, 111913186: 111913188
25 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1058G> A (p.Gly353Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111575786: 111575786
26 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1058G> A (p.Gly353Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111896989: 111896989
27 TRAF3IP2 NM_147686.3(TRAF3IP2): c.982G> A (p.Ala328Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111901440: 111901440
28 TRAF3IP2 NM_147686.3(TRAF3IP2): c.982G> A (p.Ala328Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111580237: 111580237
29 TRAF3IP2 NM_147686.3(TRAF3IP2): c.691C> T (p.Leu231Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111591396: 111591396
30 TRAF3IP2 NM_147686.3(TRAF3IP2): c.691C> T (p.Leu231Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111912599: 111912599
31 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1552G> T (p.Glu518Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111559551: 111559551
32 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1552G> T (p.Glu518Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111880754: 111880754
33 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1022+3A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111580194: 111580194
34 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1022+3A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111901397: 111901397
35 TRAF3IP2 NM_147686.3(TRAF3IP2): c.521G> A (p.Ser174Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111912769: 111912769
36 TRAF3IP2 NM_147686.3(TRAF3IP2): c.521G> A (p.Ser174Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111591566: 111591566
37 TRAF3IP2 NM_147686.3(TRAF3IP2): c.760A> G (p.Asn254Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111591327: 111591327
38 TRAF3IP2 NM_147686.3(TRAF3IP2): c.760A> G (p.Asn254Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111912530: 111912530
39 TRAF3IP2 NM_147686.3(TRAF3IP2): c.410G> A (p.Arg137His) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111591677: 111591677
40 TRAF3IP2 NM_147686.3(TRAF3IP2): c.410G> A (p.Arg137His) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111912880: 111912880
41 TRAF3IP2 NM_147686.3(TRAF3IP2): c.237G> C (p.Gln79His) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111913053: 111913053
42 TRAF3IP2 NM_147686.3(TRAF3IP2): c.237G> C (p.Gln79His) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111591850: 111591850
43 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1681C> T (p.Gln561Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111559422: 111559422
44 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1681C> T (p.Gln561Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111880625: 111880625
45 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1058G> C (p.Gly353Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111575786: 111575786
46 TRAF3IP2 NM_147686.3(TRAF3IP2): c.1058G> C (p.Gly353Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111896989: 111896989
47 TRAF3IP2 NM_147686.3(TRAF3IP2): c.767C> G (p.Ser256Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 111912523: 111912523
48 TRAF3IP2 NM_147686.3(TRAF3IP2): c.767C> G (p.Ser256Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 111591320: 111591320

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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