MCID: CHR063
MIFTS: 61

Chronic Mucocutaneous Candidiasis malady

Summaries for Chronic Mucocutaneous Candidiasis

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located in skin, located in mucous membrane, or located in nail due to t-cell defects, has-agent candida species and has symptom scaling of skin lesions, has symptom thickening of nails, has symptom swollen periungal tissue, and has symptom scarring of the scalp.

MalaCards: Chronic Mucocutaneous Candidiasis, also known as mucocutaneous candidiasis, is related to thymoma and alopecia areata, and has symptoms including scaling of skin lesions, thickening of nails and swollen periungal tissue. An important gene associated with Chronic Mucocutaneous Candidiasis is AIRE (autoimmune regulator), and among its related pathways are Rheumatoid arthritis and IL-22 Pathway. The drugs fluconazole and gentian violet and the compounds indomethacin and endotoxin have been mentioned in the context of this disorder. Affiliated tissues include skin, mucous membrane and nail due to t-cell defects, and related mouse phenotypes are respiratory system and no phenotypic analysis.

Wikipedia:64 Chronic mucocutaneous candidiasis is an immune disorder of T cells. It is characterized by chronic... more...

Description from OMIM:47 613108,212050

Aliases & Classifications for Chronic Mucocutaneous Candidiasis

Sources:
8Disease Ontology, 22GTR, 10DISEASES, 61UMLS, 45Novoseek, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH
See all sources

Aliases & Descriptions:

chronic mucocutaneous candidiasis 8 22 10
mucocutaneous candidiasis 8 61
candidiasis, chronic mucocutaneous 61
candidiasis chronic mucocutaneous 45


External Ids:

Disease Ontology8 DOID:2058
SNOMED-CT57 234568006
NCIt40 C34444
MeSH35 D002178

Related Diseases for Chronic Mucocutaneous Candidiasis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Chronic Mucocutaneous Candidiasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1thymoma31.0AIRE
2alopecia areata30.7AIRE
3systemic lupus erythematosus30.6IFNB1, STAT1, MPO, CD86, IL2RA, IL23A
4autoimmune polyendocrine syndrome30.5CARD9
5hypoparathyroidism30.5AIRE
6vasculitis30.5IL17A, MPO
7hepatitis c30.5IFNB1, STAT1, CD86
8vitiligo30.3PTPN22, AIRE
9autoimmune polyendocrine syndrome type 130.2PFKL
10oral candidiasis10.6
11candidiasis, familial, 2, autosomal recessive10.5
12alopecia10.5
13intracranial aneurysm10.4
14chronic laryngitis10.4
15autoimmune hemolytic anemia10.4
16aplastic anemia10.4
17esophageal candidiasis10.2
18rosacea10.2
19good syndrome10.2
20nocardiosis10.2
21pemphigus10.2
22hepatitis d10.2
23hepatitis a10.2
24acne10.2
25aminoaciduria10.2
26candidiasis familial chronic mucocutaneous, autosomal recessive10.2
27candidiasis, familial, 810.2
28autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
29primary immunodeficiency disease10.2
30pemphigus vegetans10.2
31alopecia universalis10.1
32myeloperoxidase deficiency10.1
33thyroiditis10.0PTPN22
34dermatitis10.0IL17A
35celiac disease10.0PTPN22
36crohn's disease10.0IL23R
37ankylosing spondylitis10.0IL23R
38keratitis10.0IL17A
39myocarditis10.0IFNB1
40candidiasis10.0AIRE, CARD9
41neuromyelitis optica10.0IFNB1
42mumps10.0STAT1
43hypothyroidism10.0AIRE
44hyper ige syndrome10.0CLEC6A
45inflammatory bowel disease10.0MPO
46optic neuritis10.0IFNB1
47myasthenia gravis10.0CD86, AIRE
48gingivitis10.0IL17A
49prostate cancer10.0STAT1
50periodontal disease10.0MPO

Graphical network of the top 20 diseases related to Chronic Mucocutaneous Candidiasis:



Diseases related to chronic mucocutaneous candidiasis

Clinical Features for Chronic Mucocutaneous Candidiasis

Sources:
47OMIM, 8Disease Ontology
See all sources

Clinical features from OMIM:

613108,212050

Symptoms:

8 (see all 4)
  • scaling of skin lesions
  • thickening of nails
  • swollen periungal tissue
  • scarring of the scalp

Drugs & Therapeutics for Chronic Mucocutaneous Candidiasis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Chronic Mucocutaneous Candidiasis

Drug clinical trials:

Search ClinicalTrials for Chronic Mucocutaneous Candidiasis

Search NIH Clinical Center for Chronic Mucocutaneous Candidiasis

Search CenterWatch for Chronic Mucocutaneous Candidiasis

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Chronic Mucocutaneous Candidiasis

Sources:
22GTR
See all sources

Genetic tests related to Chronic Mucocutaneous Candidiasis:

id Genetic test Affiliating Genes
1 Chronic Mucocutaneous Candidiasis22

Anatomical Context for Chronic Mucocutaneous Candidiasis

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

33
Skin, Bone marrow, Thymus, Brain, Liver, Lung, Thyroid, Monocytes, T cells, B cells, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid

FMA organs/tissues related to Chronic Mucocutaneous Candidiasis:

14
Skin, Mucous membrane, Nail due to t-cell defects

Animal Models for Chronic Mucocutaneous Candidiasis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Chronic Mucocutaneous Candidiasis

Sources:
51PubMed
See all sources

Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50)    (show all 233)
idTitleAuthorsYear
1
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. (22730530)
2012
2
Photo quiz. A 32-year-old man with ulcerative mucositis, skin lesions, and nail dystrophy. Chronic mucocutaneous candidiasis by multidrug-resistant Candida albicans. (22403094)
2012
3
Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis? (21988702)
2012
4
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. (23026768)
2012
5
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. (22195034)
2011
6
Chronic mucocutaneous candidiasis, from bench to bedside. (20133219)
2010
7
Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (20934207)
2010
8
Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. (20123959)
2010
9
Oral manifestation of chronic mucocutaneous candidiasis: seven case reports. (17850435)
2007
10
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea. (16284681)
2005
11
Pneumocystis carinii pneumonia infection in a patient with known chronic mucocutaneous candidiasis. (15955158)
2005
12
Disseminated Candida tropicalis in a patient with chronic mucocutaneous candidiasis. (15352680)
2004
13
Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (15290270)
2004
14
The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency. (12602677)
2003
15
Immunology of chronic mucocutaneous candidiasis. (11215289)
2001
16
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. (11517424)
2001
17
Cerebral vasculitis associated with chronic mucocutaneous candidiasis. (9787702)
1998
18
Itraconazole in the treatment of two young brothers with chronic mucocutaneous candidiasis. (9144703)
1997
19
Chronic mucocutaneous candidiasis with widespread dermatophyte infection: the trailing scale sign. (8646859)
1996
20
Chronic mucocutaneous candidiasis. (8077500)
1994
21
Lung disease associated with IgG subclass deficiency in chronic mucocutaneous candidiasis. (1986107)
1991
22
Chronic mucocutaneous candidiasis. (2502409)
1989
23
Chronic mucocutaneous candidiasis. Antibiotic and immunologic therapy. (3214089)
1988
24
Chronic mucocutaneous candidiasis. (3334621)
1987
25
Mannan-specific and mannan-induced T-cell suppressive activity in patients with chronic mucocutaneous candidiasis. (2958495)
1987
26
The "yeast connection" meets chronic mucocutaneous candidiasis. (3951526)
1986
27
Therapy of chronic mucocutaneous candidiasis. (6295148)
1983
28
Chronic mucocutaneous candidiasis with IgA deficiency in a two-year-old African girl who responded well to ketoconazole. (6197018)
1983
29
Ketoconazole in the treatment of chronic mucocutaneous candidiasis secondary to autoimmune polyendocrinopathy-candidiasis syndrome. (6288325)
1982
30
Chronic mucocutaneous candidiasis with hypoparathyroidism. (7287153)
1981
31
Cimetidine as an immunomodulator: chronic mucocutaneous candidiasis as a model. (7352725)
1980
32
Successful treatment of chronic mucocutaneous candidiasis with ketoconazole. (6252309)
1980
33
Transfer factor in the treatment of chronic mucocutaneous candidiasis: a controlled study. (6153834)
1980
34
Ketoconazole treatment of chronic mucocutaneous candidiasis. (6252853)
1980
35
Chronic mucocutaneous candidiasis. Successful treatment with intermittent oral doses of clotrimazole. (434848)
1979
36
Chronic mucocutaneous candidiasis, pernicious anaemia and IgA deficiency. (313806)
1979
37
Non-candidal infections in children with chronic mucocutaneous candidiasis. (459201)
1979
38
Subpopulations of human T lymphocytes. XI. T cells with receptors for IgM or IgG and locomotion of T and non-T cells in peripheral blood from patients with chronic mucocutaneous candidiasis. (314372)
1979
39
Chronic mucocutaneous candidiasis. Immunologic evaluation and therapy. (844330)
1977
40
New syndrome of chronic mucocutaneous candidiasis. (302128)
1977
41
Treatment of chronic mucocutaneous candidiasis with imidazole derivatives. (853348)
1977
42
Chronic mucocutaneous candidiasis and alopecia areata. (4706468)
1973
43
Chronic mucocutaneous candidiasis with abnormal function of serum complement. (4741333)
1973
44
Inhibition of growth of Candida albicans by iron-unsaturated lactoferrin: relation to host-defense mechanisms in chronic mucocutaneous candidiasis. (4942475)
1971
45
Transfer of cellular hypersensitivity in chronic mucocutaneous candidiasis monitored in vivo and in vitro. (5523582)
1970
46
Lymphocyte abnormality in chronic mucocutaneous candidiasis. (4193722)
1970
47
Lymphocyte abnormality in chronic mucocutaneous candidiasis. (4193340)
1970
48
The cellular immune defect in chronic mucocutaneous candidiasis. (4182179)
1969
49
Immunological observations in chronic mucocutaneous candidiasis. (4185535)
1969
50
Chronic mucocutaneous candidiasis--associated immunologic abnormalities. (5663727)
1968

Genetic Variations for Chronic Mucocutaneous Candidiasis

Expression for genes affiliated with Chronic Mucocutaneous Candidiasis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Chronic Mucocutaneous Candidiasis

Search GEO for disease gene expression data for Chronic Mucocutaneous Candidiasis.

Pathways for genes affiliated with Chronic Mucocutaneous Candidiasis

Sources:
30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 53R&D Systems, 12EMD Millipore
See all sources

Pathways related to Chronic Mucocutaneous Candidiasis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3CD86
210.0IL22, STAT1
3
Hide members
9.9IL17A, CD86, STAT1
4
Mucin expression in CF via IL-6, IL-17 signaling pathways
Hide members
9.7IL17D, IL17F, IL17RA, IL17A
59.6STAT1, CD86, IL2RA, IL22
6
Hide members
9.5IL2RA, STAT1, IFNB1, PVRL1
79.5CARD9, IFNB1, STAT1, IL23A
8
Cytokine production by Th17 cells in CF (Mouse model)
9.5IL17F, IL23A, IL17RA, IL17A, IL23R
9
Development PDGF signaling via STATs and NF-kB
Hide members
9.2STAT1, MPO, IL17F, IL23A, IL17A, IL23R
10
Hide members
9.2IFNB1, STAT1, IL2RA, IL23A, IL22
11
Hide members
9.2STAT1, IL17F, IL23A, IL17A, IL22, IL23R
12
Hide members
9.1PVRL1, IL2RA, IL23A, IL22, IL23R, PTPN22
139.0IFNB1, STAT1, IL2RA, IL23A, IL22, IL23R
14
Hide members
9.0STAT1, PFKL, IL2RA, IL23A, IL22, IL23R
15
Hide members
8.9IL23R, STAT1, CD86, IL17F, IL23A, IL17RA
16
Hide members
8.8IFNB1, IL2RA, IL23A, IL17RA, IL17A, IL22

Compounds for genes affiliated with Chronic Mucocutaneous Candidiasis

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 50PharmGKB
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Compounds related to Chronic Mucocutaneous Candidiasis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1indomethacin45 60 29 1113.4IFNB1
2endotoxin4510.3STAT1, CD86
3flagellin45 2911.0CD86, STAT1, IFNB1
4trinitrobenzenesulfonic acid459.9IL17A, MPO
5natalizumab45 1110.9IL2RA, IFNB1
62,5-oligoadenylate459.9IFNB1, STAT1, IL2RA
7polyinosinic-polycytidylic acid459.9IFNB1, STAT1, CD83
8ifn-alpha459.8IL17A, IL2RA, STAT1, IFNB1
9rantes459.6IFNB1, STAT1, IL2RA, IL17RA, IL17A
10cyclosporin a45 29 6011.5STAT1, CD86, CD83, IL2RA, IL17A
11sb 20358045 6010.3IFNB1, STAT1, AIRE, IL17A
12dexamethasone45 50 29 1112.2IL17A, IL2RA, CD83, CD86, STAT1, IFNB1
13tyrosine458.8PVRL1, IFNB1, STAT1, AIRE, CD86, IL2RA
14pge2458.8IL17A, IFNB1, STAT1, MPO, CD86, CD83

GO Terms for genes affiliated with Chronic Mucocutaneous Candidiasis

Sources:
16Gene Ontology
See all sources

Cellular components related to Chronic Mucocutaneous Candidiasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.3IL17A, IL2RA, CD83, CD86
2extracellular spaceGO:0056159.0MPO, IL17D, IL17F, IL17A, IL22, IFNB1

Biological processes related to Chronic Mucocutaneous Candidiasis according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1regulation of interleukin-2 biosynthetic processGO:04507610.5CARD9, IL17F
2regulation of interleukin-6 biosynthetic processGO:04540810.5IL17F, CARD9
3fibroblast activationGO:07253710.5IL17A, IL17RA
4positive regulation of interleukin-23 productionGO:03274710.4IL17RA, IL17A
5positive regulation of cytokine production involved in inflammatory responseGO:190001710.3IL17A, IL17RA, IL17F
6regulation of tyrosine phosphorylation of Stat1 proteinGO:04251010.3IL23R, IL23A
7positive regulation of T-helper 17 cell lineage commitmentGO:200033010.3IL23A, IL23R
8positive regulation of tyrosine phosphorylation of Stat4 proteinGO:04252010.3IL23A, IL23R
9positive regulation of NK T cell activationGO:05113510.3IL23A, IL23R
10positive regulation of memory T cell differentiationGO:04338210.3IL23A, IL23R
11positive regulation of T-helper 17 type immune responseGO:200031810.3IL23A, IL23R
12positive regulation of natural killer cell proliferationGO:03281910.2IL23A, IL23R
13positive regulation of granulocyte macrophage colony-stimulating factor productionGO:03272510.2IL23A, IL23R
14positive regulation of activation of JAK2 kinase activityGO:01053510.2IL23A, IL23R
15response to exogenous dsRNAGO:04333010.2CARD9, STAT1
16negative regulation of interleukin-10 productionGO:03269310.2IL23R, IL23A
17positive regulation of T-helper 1 type immune responseGO:00282710.2IL23A, IL23R
18positive regulation of osteoclast differentiationGO:04567210.2IL23R, IL17A, IL23A
19positive regulation of activated T cell proliferationGO:04210410.1IL23R, IL23A, IL2RA
20positive regulation of interleukin-17 productionGO:03274010.1IL23R, IL23A
21humoral immune responseGO:00695910.0CD83, AIRE, IFNB1
22positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.0IL23A, IL23R
23defense response to fungusGO:0508329.9CLEC6A, MPO
24immune responseGO:0069559.9PVRL1, AIRE, CD86, IL2RA, IL17A
25positive regulation of interleukin-10 productionGO:0327339.8CD83, IL23A
26defense response to virusGO:0516079.7CARD9, IFNB1, STAT1, CD86, IL23A
27positive regulation of defense response to virus by hostGO:0022309.7IL23A, IL23R
28inflammatory responseGO:0069549.5IL17D, IL17F, IL23A, IL17A, IL22, IL23R
29positive regulation of transcription from RNA polymerase II promoterGO:0459449.5IFNB1, STAT1, AIRE, IL17F, IL23A, IL17A
30innate immune responseGO:0450879.3CARD9, IFNB1, CD86, CLEC6A, IL23A

Molecular functions related to Chronic Mucocutaneous Candidiasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.0IL22, IL17A, IL23A, IL17F, IL17D, IFNB1

Products for genes affiliated with Chronic Mucocutaneous Candidiasis

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  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Mucocutaneous Candidiasis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet