CANDF8
MCID: CND025
MIFTS: 24

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 56 73 29 6 71
Candf8 56 73
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive 56
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 73
Candidiasis, Familial, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 615527
OMIM Phenotypic Series 56 PS114580
MeSH 43 D002178
UMLS 71 C3714992

Summaries for Candidiasis, Familial, 8

OMIM : 56 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)

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

UniProtKB/Swiss-Prot : 73 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 11.7
2 immunodeficiency 51 11.7

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 blepharitis 31 HP:0000498
3 seborrheic dermatitis 31 HP:0001051
4 onychomycosis 31 HP:0012203

Symptoms via clinical synopsis from OMIM:

56
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 29 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

40
Skin

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. 56 6
24120361 2013

Variations for Candidiasis, Familial, 8

ClinVar genetic disease variations for Candidiasis, Familial, 8:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAF3IP2 NM_147200.3(TRAF3IP2):c.1607C>T (p.Thr536Ile)SNV Pathogenic 88768 rs397518485 6:111880726-111880726 6:111559523-111559523
2 TRAF3IP2 NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln)SNV Conflicting interpretations of pathogenicity 626192 rs144405088 6:111912471-111912471 6:111591268-111591268
3 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs)deletion Uncertain significance 658088 6:111896963-111897003 6:111575760-111575800
4 TRAF3IP2 NM_147686.4(TRAF3IP2):c.773A>G (p.His258Arg)SNV Uncertain significance 661674 6:111912517-111912517 6:111591314-111591314
5 TRAF3IP2 NM_147686.4(TRAF3IP2):c.641G>A (p.Arg214Lys)SNV Uncertain significance 652596 6:111912649-111912649 6:111591446-111591446
6 TRAF3IP2 NM_147686.4(TRAF3IP2):c.560G>A (p.Arg187Gln)SNV Uncertain significance 659314 6:111912730-111912730 6:111591527-111591527
7 TRAF3IP2 NM_147686.4(TRAF3IP2):c.221G>A (p.Arg74Gln)SNV Uncertain significance 650314 6:111913069-111913069 6:111591866-111591866
8 TRAF3IP2 NM_147686.4(TRAF3IP2):c.109C>T (p.Pro37Ser)SNV Uncertain significance 649481 6:111913181-111913181 6:111591978-111591978
9 TRAF3IP2 NM_147686.4(TRAF3IP2):c.16C>G (p.Pro6Ala)SNV Uncertain significance 663282 6:111913274-111913274 6:111592071-111592071
10 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1249A>G (p.Lys417Glu)SNV Uncertain significance 541097 rs1253864619 6:111894139-111894139 6:111572936-111572936
11 TRAF3IP2 NM_147686.4(TRAF3IP2):c.758C>G (p.Pro253Arg)SNV Uncertain significance 541098 rs146627823 6:111912532-111912532 6:111591329-111591329
12 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1058G>A (p.Gly353Asp)SNV Uncertain significance 567507 rs148619849 6:111896989-111896989 6:111575786-111575786
13 TRAF3IP2 NM_147686.4(TRAF3IP2):c.982G>A (p.Ala328Thr)SNV Uncertain significance 571515 rs751906100 6:111901440-111901440 6:111580237-111580237
14 TRAF3IP2 NM_147686.4(TRAF3IP2):c.691C>T (p.Leu231Phe)SNV Uncertain significance 573542 rs149860754 6:111912599-111912599 6:111591396-111591396
15 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1552G>T (p.Glu518Ter)SNV Uncertain significance 566723 rs1562415808 6:111880754-111880754 6:111559551-111559551
16 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1022+3A>GSNV Uncertain significance 576636 rs1562427078 6:111901397-111901397 6:111580194-111580194
17 TRAF3IP2 NM_147686.4(TRAF3IP2):c.521G>A (p.Ser174Asn)SNV Uncertain significance 567002 rs1562433434 6:111912769-111912769 6:111591566-111591566
18 TRAF3IP2 NM_147686.4(TRAF3IP2):c.760A>G (p.Asn254Asp)SNV Uncertain significance 569438 rs1562433144 6:111912530-111912530 6:111591327-111591327
19 TRAF3IP2 NM_147686.4(TRAF3IP2):c.410G>A (p.Arg137His)SNV Uncertain significance 575088 rs1243216801 6:111912880-111912880 6:111591677-111591677
20 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter)SNV Uncertain significance 582451 rs1562415669 6:111880625-111880625 6:111559422-111559422
21 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1058G>C (p.Gly353Ala)SNV Uncertain significance 574786 rs148619849 6:111896989-111896989 6:111575786-111575786
22 TRAF3IP2 NM_147686.4(TRAF3IP2):c.767C>G (p.Ser256Cys)SNV Uncertain significance 570535 rs1562433128 6:111912523-111912523 6:111591320-111591320
23 TRAF3IP2 NM_147686.4(TRAF3IP2):c.233G>A (p.Arg78Gln)SNV Uncertain significance 474040 rs973361796 6:111913057-111913057 6:111591854-111591854
24 TRAF3IP2 NM_147686.4(TRAF3IP2):c.1377C>T (p.Ile459=)SNV Likely benign 474037 rs371382152 6:111887746-111887746 6:111566543-111566543

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

73
# 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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