MCID: CND025
MIFTS: 26

Candidiasis, Familial, 8

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

Aliases & Classifications for Candidiasis, Familial, 8

MalaCards integrated aliases for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 54 71 29 69
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 71
Candidiasis, Familial Chronic Mucocutaneous 24
Candidiasis, Familial 8 24
Candf8 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



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 candidiasis familial chronic mucocutaneous autosomal recessive, is related to candidiasis, familial, 6, autosomal dominant and candidiasis, familial, 4, autosomal recessive, and has symptoms including macroglossia, onychomycosis and blepharitis. An important gene associated with Candidiasis, Familial, 8 is TRAF3IP2 (TRAF3 Interacting Protein 2). Affiliated tissues include skin, and related phenotypes are digestive/alimentary and respiratory system

OMIM : 54
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

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



Diseases related to Candidiasis, Familial, 8

Symptoms & Phenotypes for Candidiasis, Familial, 8

Symptoms via clinical synopsis from OMIM:

54

Immunology:
immunologic evaluation unremarkable

Skin Nails & Hair- Nails:
onychomycosis

Head And Neck- Mouth:
macroglossia
macrocheilitis
oral candidiasis

Head And Neck- Head:
folliculitis decalvans

Skin Nails & Hair- Hair:
folliculitis decalvans

Skin Nails & Hair- Skin:
seborrheic dermatitis in infancy

Head And Neck- Eyes:
blepharitis


Clinical features from OMIM:

615527

Human phenotypes related to Candidiasis, Familial, 8:

32
id Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 onychomycosis 32 HP:0012203
3 blepharitis 32 HP:0000498

MGI Mouse Phenotypes related to Candidiasis, Familial, 8:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.96 CLEC7A TRAF3IP2
2 respiratory system MP:0005388 8.62 CLEC7A TRAF3IP2

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:

id Genetic test Affiliating Genes
1 Candidiasis, Familial, 8 29
2 Candidiasis, Familial 8 24 TRAF3IP2

Anatomical Context for Candidiasis, Familial, 8

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

39
Skin

Publications for Candidiasis, Familial, 8

Variations for Candidiasis, Familial, 8

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

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

ClinVar genetic disease variations for Candidiasis, Familial, 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CLEC7A NM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter) single nucleotide variant risk factor rs16910526 GRCh37 Chromosome 12, 10271087: 10271087
2 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
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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