CANDF8
MCID: CND025
MIFTS: 24

Candidiasis, Familial, 8 (CANDF8) malady

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

Aliases & Classifications for Candidiasis, Familial, 8

Aliases & Descriptions for Candidiasis, Familial, 8:

Name: Candidiasis, Familial, 8 54 66 69
Candidiasis, Familial 8 24 29
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 66
Candidiasis, Familial Chronic Mucocutaneous 24
Candf8 66

Characteristics:

HPO:

32
candidiasis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615527
MeSH 42 D002178

Summaries for Candidiasis, Familial, 8

OMIM : 54 Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral... (615527) more...

MalaCards based summary : Candidiasis, Familial, 8, also known as candidiasis, familial 8, is related to candidiasis, familial, 4, autosomal recessive and candidiasis, familial, 6, autosomal dominant, and has symptoms including macroglossia, blepharitis and onychomycosis. 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

UniProtKB/Swiss-Prot : 66 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

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 by clinical synopsis from OMIM:

615527

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 blepharitis 32 HP:0000498
3 onychomycosis 32 HP:0012203

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:

66
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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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