MCID: CHR063
MIFTS: 59

Chronic Mucocutaneous Candidiasis malady

Genetic diseases, Infectious diseases, Skin diseases, Rare diseases categories

Summaries for Chronic Mucocutaneous Candidiasis

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Disease Ontology:9 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 based summary: Chronic Mucocutaneous Candidiasis, also known as mucocutaneous candidiasis, is related to keratitis and pneumonia, and has symptoms including scaling of skin lesions, thickening of nails and swollen periungal tissue. An important gene associated with Chronic Mucocutaneous Candidiasis is IL17F (interleukin 17F), and among its related pathways are Immune response Antigen presentation by MHC class II and IL-9 Signaling Pathways. The drugs fluconazole and gentian violet and the compounds curcumin and ifn-alpha 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 tumorigenesis.

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

Descriptions from OMIM:46 212050,613108

Aliases & Classifications for Chronic Mucocutaneous Candidiasis

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Sources:
9Disease Ontology, 23GTR, 11DISEASES, 61UMLS, 44Novoseek, 56SNOMED-CT, 46OMIM, 39NCIt, 34MeSH
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Chronic Mucocutaneous Candidiasis, Aliases & Descriptions:

Name: Chronic Mucocutaneous Candidiasis 9 23 11
Mucocutaneous Candidiasis 9 61
 
Candidiasis, Chronic Mucocutaneous 61
Candidiasis Chronic Mucocutaneous 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Infectious diseases, Rare diseases
Anatomical: Skin diseases


External Ids:

Disease Ontology9 DOID:2058
SNOMED-CT56 234568006
NCIt39 C34444
MeSH34 D002178

Related Diseases for Chronic Mucocutaneous Candidiasis

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Diseases in the Chronic Mucocutaneous Candidiasis family:

Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1keratitis31.1IL17A
2pneumonia30.5IL17A, IL22, IL17F
3hepatitis30.4IL22, STAT1
4candidiasis11.4
5thymoma10.7
6systemic lupus erythematosus10.5
7dermatophytosis10.5
8esophagitis10.5
9histoplasmosis10.5
10hypothyroidism10.5
11lupus erythematosus10.5
12aneurysm10.5
13alopecia10.4
14aplastic anemia10.4
15hemolytic anemia10.4
16autoimmune hemolytic anemia10.4
17intracranial aneurysm10.4
18cerebritis10.4
19hypoparathyroidism10.4
20alopecia areata10.4
21autoimmune polyendocrine syndrome10.4
22laryngitis10.4
23meningitis10.4
24vasculitis10.4
25acne10.2
26esophageal cancer10.2
27myasthenia gravis10.2
28vitiligo10.2
29nocardiosis10.2
30pemphigus10.2
31autoimmune polyendocrine syndrome type 110.2
32rosacea10.2
33hypopituitarism10.2
34influenza10.2
35myositis10.2
36t cell deficiency10.2
37thyroiditis10.2
38aminoaciduria10.2
39candidiasis familial chronic mucocutaneous, autosomal recessive10.2
40haemophilus influenzae10.2
41kid syndrome10.2
42candidiasis, familial, 810.2
43candidiasis, familial, 4, autosomal recessive10.2
44autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
45primary immunodeficiency disease10.2
46pemphigus vegetans10.2
47alopecia universalis10.2
48good syndrome10.2
49impotence10.2
50myeloperoxidase deficiency10.2

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



Diseases related to chronic mucocutaneous candidiasis

Symptoms for Chronic Mucocutaneous Candidiasis

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Clinical features from OMIM:

212050,613108

Symptoms:

 9
  • scaling of skin lesions
  • thickening of nails
  • swollen periungal tissue
  • scarring of the scalp

Drugs & Therapeutics for Chronic Mucocutaneous Candidiasis

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Drug clinical trials:

Search ClinicalTrials for Chronic Mucocutaneous Candidiasis

Search NIH Clinical Center for Chronic Mucocutaneous Candidiasis

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Chronic Mucocutaneous Candidiasis

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Genetic tests related to Chronic Mucocutaneous Candidiasis:

id Genetic test Affiliating Genes
1 Chronic Mucocutaneous Candidiasis23

Anatomical Context for Chronic Mucocutaneous Candidiasis

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MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

32
T cells, Skin, Neutrophil, Bone marrow, Bone, Thymus, Monocytes, Brain, Liver, Lung, Thyroid, B cells

FMA organs/tissues related to Chronic Mucocutaneous Candidiasis:

15
Skin, Mucous membrane, Nail due to t-cell defects

Animal Models for Chronic Mucocutaneous Candidiasis or affiliated genes

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MGI Mouse Phenotypes related to Chronic Mucocutaneous Candidiasis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4IL17A, IL22, IL17F, IL17RA
2MP:00020068.2STAT1, IL22, IL17RA
3MP:00053818.1IL17F, IL22, IL17A, STAT1
4MP:00030128.1IL17RA, IL22, IL17A, STAT1
5MP:00053768.0IL17RA, IL22, IL17A, STAT1
6MP:00053977.7IL17RA, IL17F, IL22, IL17A, STAT1
7MP:00053877.6STAT1, IL17A, IL22, IL17F, IL17RA

Publications for Chronic Mucocutaneous Candidiasis

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Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50)    (show all 237)
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
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. (22847544)
2012
4
Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis? (21988702)
2012
5
Successful treatment of chronic mucocutaneous candidiasis caused by azole-resistant Candida albicans with posaconazole. (21197459)
2011
6
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
7
Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma. (19778308)
2009
8
Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED. (19037923)
2008
9
Altered, but not diminished specific T cell response in chronic mucocutaneous candidiasis patients. (17960405)
2007
10
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea. (16284681)
2005
11
Chronic mucocutaneous candidiasis in a child. (16394492)
2005
12
Disseminated Candida tropicalis in a patient with chronic mucocutaneous candidiasis. (15352680)
2004
13
Polyglandular autoimmune syndrome type 1 without chronic mucocutaneous candidiasis in a 16 year-old male. (12585347)
2003
14
The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency. (12602677)
2003
15
Antigliadin antibodies associated with chronic mucocutaneous candidiasis. (12383098)
2002
16
Pneumocystis carinii pneumonia in a 15-year-old with chronic mucocutaneous candidiasis. (10447335)
1999
17
Haemophilus influenzae type D infection and IgG2 deficiency in a patient with chronic mucocutaneous candidiasis. (8203272)
1994
18
Chronic mucocutaneous candidiasis. (8077500)
1994
19
Fatal pulmonary nocardiosis in a patient with chronic mucocutaneous candidiasis. (8064079)
1994
20
Vascular nodules and plaques resembling chronic mucocutaneous candidiasis in a patient with a low interleukin 2 level. (8349866)
1993
21
Lung disease associated with IgG subclass deficiency in chronic mucocutaneous candidiasis. (1986107)
1991
22
Chronic mucocutaneous candidiasis. Antibiotic and immunologic therapy. (3214089)
1988
23
KID syndrome (keratitis, ichthyosis, and deafness) and chronic mucocutaneous candidiasis: case report and review of the literature. (6390393)
1984
24
Immunological observations before and after successful treatment of chronic mucocutaneous candidiasis with ketoconazole and transfer factor. (6096150)
1984
25
Chronic mucocutaneous candidiasis. (6317830)
1983
26
Chronic mucocutaneous candidiasis and keratitis associated with malignant thymoma. (6838096)
1983
27
Impaired generation of helper T cells in a patient with chronic mucocutaneous candidiasis and malignant thymoma. (6221110)
1983
28
Treatment of chronic mucocutaneous candidiasis with 5-fluorocytosine. (6756218)
1982
29
Severe hepatitis associated with ketoconazole therapy for chronic mucocutaneous candidiasis. (6284445)
1982
30
Chronic mucocutaneous Candidiasis-endocrinopathies. (7318499)
1981
31
Chronic mucocutaneous candidiasis with candida granuloma treated with 5-fluorocytosine. (7227606)
1981
32
A serum-dependent defect of neutrophil function in chronic mucocutaneous candidiasis. (6995490)
1980
33
Chronic mucocutaneous candidiasis and disseminated histoplasmosis. (7358883)
1980
34
Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family. (316285)
1979
35
Immunological investigation of patients with chronic mucocutaneous candidiasis. (399626)
1979
36
Symposium: Chronic mucocutaneous candidiasis. (552463)
1979
37
Chronic mucocutaneous candidiasis. Successful treatment with intermittent oral doses of clotrimazole. (434848)
1979
38
Plasma thymic hormone activity in patients with chronic mucocutaneous candidiasis. (743805)
1978
39
Clotrimazole: intermittent therapy in chronic mucocutaneous candidiasis. (842517)
1977
40
Chronic mucocutaneous candidiasis. Immunologic evaluation and therapy. (844330)
1977
41
Chronic mucocutaneous candidiasis, dermatophytosis and defective cellular immunity in monozygotic twins. (4134659)
1974
42
Chronic mucocutaneous candidiasis. (4470726)
1974
43
Selective hypopituitarism. Impaired cell-mediated immunity and chronic mucocutaneous candidiasis. (4740720)
1973
44
Chronic mucocutaneous candidiasis: iron deficiency and the effects of iron therapy. (4733977)
1973
45
Transfer factor in the treatment of a case of chronic mucocutaneous candidiasis. (4554089)
1972
46
Chronic mucocutaneous candidiasis, myositis, and thymoma. A new triad. (4564702)
1972
47
Treatment of chronic mucocutaneous candidiasis with leucocytes from HL-A compatible sibling. (4109818)
1972
48
Lymphocyte abnormality in chronic mucocutaneous candidiasis. (4192497)
1970
49
Transfer of cellular hypersensitivity in chronic mucocutaneous candidiasis monitored in vivo and in vitro. (5523582)
1970
50
Chronic mucocutaneous candidiasis as a surface expression of deep-seated abnormalities. Report of a syndrome of superficial candidiasis, absence of delayed hypersensitivity and aminoaciduria. (5822974)
1969

Variations for Chronic Mucocutaneous Candidiasis

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Expression for genes affiliated with Chronic Mucocutaneous Candidiasis

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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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Immune response IL 22 signaling pathway59
G protein signaling N RAS regulation pathway59
9.1IL22, STAT1
2
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
9.1IL22, STAT1
3
Show member pathways
Type III interferon signaling37
9.1IL22, STAT1
4
Show member pathways
IL27-mediated signaling events37
9.1IL17A, STAT1
5
Show member pathways
8.9IL17A, IL17F, IL17RA
6
Show member pathways
8.9IL17RA, IL17F, IL17A
7
Show member pathways
8.8IL17A, IL22, IL17RA
8
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
8.7IL17F, IL17A, STAT1
9
Show member pathways
8.2STAT1, IL17A, IL22, IL17F
10
Show member pathways
7.5IL17RA, IL17F, IL22, IL17A, STAT1

Compounds for genes affiliated with Chronic Mucocutaneous Candidiasis

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44Novoseek
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Compounds related to Chronic Mucocutaneous Candidiasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1curcumin449.1IL17A, STAT1
2ifn-alpha449.0IL17A, STAT1
3endotoxin448.8IL17A, STAT1
4rantes448.5IL17RA, IL17A, STAT1

GO Terms for genes affiliated with Chronic Mucocutaneous Candidiasis

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.0IL17F, IL22, IL17A

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast activationGO:0725379.4IL17RA, IL17A
2positive regulation of interleukin-23 productionGO:0327479.3IL17RA, IL17A
3positive regulation of cytokine production involved in inflammatory responseGO:19000179.0IL17RA, IL17F, IL17A
4negative regulation of angiogenesisGO:0165258.9IL17F, STAT1
5inflammatory responseGO:0069548.9IL17A, IL22, IL17F
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.7IL17F, IL17A, STAT1

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

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

Products for genes affiliated with Chronic Mucocutaneous Candidiasis

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Sources for Chronic Mucocutaneous Candidiasis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet