CANDF8
MCID: CND025
MIFTS: 26

Candidiasis, Familial, 8 (CANDF8)

Categories: Blood diseases, Gastrointestinal 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 57 72 29 6 70
Candf8 57 72
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 57
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 72
Candidiasis, Familial, Type 8 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615527
OMIM Phenotypic Series 57 PS114580
MeSH 44 D002178
UMLS 70 C3714992

Summaries for Candidiasis, Familial, 8

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) (Updated 20-May-2021)

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). Related phenotypes are macroglossia and seborrheic dermatitis

UniProtKB/Swiss-Prot : 72 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.

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

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 32.0 TRAF3IP2-AS1 TRAF3IP2
2 immunodeficiency 51 11.5
3 candidiasis 9.6 TRAF3IP2-AS1 TRAF3IP2
4 psoriasis 13 9.6 TRAF3IP2-AS1 TRAF3IP2
5 discoid lupus erythematosus 9.5 TRAF3IP2-AS1 TRAF3IP2
6 chronic mucocutaneous candidiasis 9.4 TRAF3IP2-AS1 TRAF3IP2

Graphical network of the top 20 diseases related to Candidiasis, Familial, 8:



Diseases related to Candidiasis, Familial, 8

Symptoms & Phenotypes for Candidiasis, Familial, 8

Human phenotypes related to Candidiasis, Familial, 8:

31
# Description HPO Frequency HPO Source Accession
1 macroglossia 31 HP:0000158
2 seborrheic dermatitis 31 HP:0001051
3 blepharitis 31 HP:0000498
4 onychomycosis 31 HP:0012203

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Publications for Candidiasis, Familial, 8

Articles related to Candidiasis, Familial, 8:

# Title Authors PMID Year
1
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. 6 57
24120361 2013

Variations for Candidiasis, Familial, 8

ClinVar genetic disease variations for Candidiasis, Familial, 8:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAF3IP2 , TRAF3IP2-AS1 NM_147200.3(TRAF3IP2):c.1607C>T (p.Thr536Ile) SNV Pathogenic 88768 rs397518485 GRCh37: 6:111880726-111880726
GRCh38: 6:111559523-111559523
2 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln) SNV Conflicting interpretations of pathogenicity 626192 rs144405088 GRCh37: 6:111912471-111912471
GRCh38: 6:111591268-111591268
3 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly) SNV Conflicting interpretations of pathogenicity 720205 rs73764462 GRCh37: 6:111913058-111913058
GRCh38: 6:111591855-111591855
4 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.109C>T (p.Pro37Ser) SNV Uncertain significance 649481 rs748095541 GRCh37: 6:111913181-111913181
GRCh38: 6:111591978-111591978
5 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.221G>A (p.Arg74Gln) SNV Uncertain significance 650314 rs149247775 GRCh37: 6:111913069-111913069
GRCh38: 6:111591866-111591866
6 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.641G>A (p.Arg214Lys) SNV Uncertain significance 652596 rs181942095 GRCh37: 6:111912649-111912649
GRCh38: 6:111591446-111591446
7 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs) Deletion Uncertain significance 658088 rs1583225922 GRCh37: 6:111896963-111897003
GRCh38: 6:111575760-111575800
8 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.560G>A (p.Arg187Gln) SNV Uncertain significance 659314 rs769293100 GRCh37: 6:111912730-111912730
GRCh38: 6:111591527-111591527
9 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.773A>G (p.His258Arg) SNV Uncertain significance 661674 rs1456391791 GRCh37: 6:111912517-111912517
GRCh38: 6:111591314-111591314
10 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.16C>G (p.Pro6Ala) SNV Uncertain significance 663282 rs1471659672 GRCh37: 6:111913274-111913274
GRCh38: 6:111592071-111592071
11 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.233G>A (p.Arg78Gln) SNV Uncertain significance 474040 rs973361796 GRCh37: 6:111913057-111913057
GRCh38: 6:111591854-111591854
12 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1249A>G (p.Lys417Glu) SNV Uncertain significance 541097 rs1253864619 GRCh37: 6:111894139-111894139
GRCh38: 6:111572936-111572936
13 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.758C>G (p.Pro253Arg) SNV Uncertain significance 541098 rs146627823 GRCh37: 6:111912532-111912532
GRCh38: 6:111591329-111591329
14 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1552G>T (p.Glu518Ter) SNV Uncertain significance 566723 rs1562415808 GRCh37: 6:111880754-111880754
GRCh38: 6:111559551-111559551
15 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.521G>A (p.Ser174Asn) SNV Uncertain significance 567002 rs1562433434 GRCh37: 6:111912769-111912769
GRCh38: 6:111591566-111591566
16 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1058G>A (p.Gly353Asp) SNV Uncertain significance 567507 rs148619849 GRCh37: 6:111896989-111896989
GRCh38: 6:111575786-111575786
17 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.760A>G (p.Asn254Asp) SNV Uncertain significance 569438 rs1562433144 GRCh37: 6:111912530-111912530
GRCh38: 6:111591327-111591327
18 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.767C>G (p.Ser256Cys) SNV Uncertain significance 570535 rs1562433128 GRCh37: 6:111912523-111912523
GRCh38: 6:111591320-111591320
19 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.982G>A (p.Ala328Thr) SNV Uncertain significance 571515 rs751906100 GRCh37: 6:111901440-111901440
GRCh38: 6:111580237-111580237
20 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.691C>T (p.Leu231Phe) SNV Uncertain significance 573542 rs149860754 GRCh37: 6:111912599-111912599
GRCh38: 6:111591396-111591396
21 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1058G>C (p.Gly353Ala) SNV Uncertain significance 574786 rs148619849 GRCh37: 6:111896989-111896989
GRCh38: 6:111575786-111575786
22 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.410G>A (p.Arg137His) SNV Uncertain significance 575088 rs1243216801 GRCh37: 6:111912880-111912880
GRCh38: 6:111591677-111591677
23 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1022+3A>G SNV Uncertain significance 576636 rs1562427078 GRCh37: 6:111901397-111901397
GRCh38: 6:111580194-111580194
24 TRAF3IP2 , TRAF3IP2-AS1 NC_000006.12:g.(?_111559385)_(111592106_?)dup Duplication Uncertain significance 832342 GRCh37: 6:111880588-111913309
GRCh38:
25 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.661G>A (p.Val221Met) SNV Uncertain significance 842746 GRCh37: 6:111912629-111912629
GRCh38: 6:111591426-111591426
26 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.88G>A (p.Glu30Lys) SNV Uncertain significance 851398 GRCh37: 6:111913202-111913202
GRCh38: 6:111591999-111591999
27 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.6C>A (p.Asn2Lys) SNV Uncertain significance 852211 GRCh37: 6:111913284-111913284
GRCh38: 6:111592081-111592081
28 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.704A>C (p.Glu235Ala) SNV Uncertain significance 853708 GRCh37: 6:111912586-111912586
GRCh38: 6:111591383-111591383
29 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.761A>G (p.Asn254Ser) SNV Uncertain significance 856196 GRCh37: 6:111912529-111912529
GRCh38: 6:111591326-111591326
30 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1082G>A (p.Cys361Tyr) SNV Uncertain significance 856960 GRCh37: 6:111896965-111896965
GRCh38: 6:111575762-111575762
31 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1507A>G (p.Met503Val) SNV Uncertain significance 858701 GRCh37: 6:111884212-111884212
GRCh38: 6:111563009-111563009
32 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1378G>A (p.Val460Ile) SNV Uncertain significance 860464 GRCh37: 6:111887745-111887745
GRCh38: 6:111566542-111566542
33 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1328T>C (p.Ile443Thr) SNV Uncertain significance 863238 GRCh37: 6:111888858-111888858
GRCh38: 6:111567655-111567655
34 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.736G>A (p.Ala246Thr) SNV Uncertain significance 934857 GRCh37: 6:111912554-111912554
GRCh38: 6:111591351-111591351
35 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.625A>C (p.Ile209Leu) SNV Uncertain significance 939361 GRCh37: 6:111912665-111912665
GRCh38: 6:111591462-111591462
36 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.518G>A (p.Gly173Asp) SNV Uncertain significance 944025 GRCh37: 6:111912772-111912772
GRCh38: 6:111591569-111591569
37 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1345C>T (p.Arg449Cys) SNV Uncertain significance 945538 GRCh37: 6:111888841-111888841
GRCh38: 6:111567638-111567638
38 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1396T>A (p.Tyr466Asn) SNV Uncertain significance 950375 GRCh37: 6:111887727-111887727
GRCh38: 6:111566524-111566524
39 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.54G>T (p.Gln18His) SNV Uncertain significance 953408 GRCh37: 6:111913236-111913236
GRCh38: 6:111592033-111592033
40 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.691C>G (p.Leu231Val) SNV Uncertain significance 957805 GRCh37: 6:111912599-111912599
GRCh38: 6:111591396-111591396
41 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1360-9C>G SNV Uncertain significance 962415 GRCh37: 6:111887772-111887772
GRCh38: 6:111566569-111566569
42 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.233G>T (p.Arg78Leu) SNV Uncertain significance 967231 GRCh37: 6:111913057-111913057
GRCh38: 6:111591854-111591854
43 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1435G>A (p.Glu479Lys) SNV Uncertain significance 972376 GRCh37: 6:111887688-111887688
GRCh38: 6:111566485-111566485
44 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1417G>A (p.Ala473Thr) SNV Uncertain significance 1000396 GRCh37: 6:111887706-111887706
GRCh38: 6:111566503-111566503
45 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1552-6C>A SNV Uncertain significance 1006065 GRCh37: 6:111880760-111880760
GRCh38: 6:111559557-111559557
46 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.343G>A (p.Glu115Lys) SNV Uncertain significance 1008330 GRCh37: 6:111912947-111912947
GRCh38: 6:111591744-111591744
47 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.583A>G (p.Ile195Val) SNV Uncertain significance 1008771 GRCh37: 6:111912707-111912707
GRCh38: 6:111591504-111591504
48 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.566G>A (p.Gly189Asp) SNV Uncertain significance 1009291 GRCh37: 6:111912724-111912724
GRCh38: 6:111591521-111591521
49 TRAF3IP2 , TRAF3IP2-AS1 , LOC114803478 NM_147686.4(TRAF3IP2):c.517G>A (p.Gly173Ser) SNV Uncertain significance 1013996 GRCh37: 6:111912773-111912773
GRCh38: 6:111591570-111591570
50 TRAF3IP2 , TRAF3IP2-AS1 NM_147686.4(TRAF3IP2):c.1193A>C (p.Glu398Ala) SNV Uncertain significance 1017182 GRCh37: 6:111896854-111896854
GRCh38: 6:111575651-111575651

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

72
# Symbol AA change Variation ID SNP ID
1 TRAF3IP2 p.Thr536Ile VAR_070904 rs397518485

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

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