MCID: CHR063
MIFTS: 65

Chronic Mucocutaneous Candidiasis

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

Aliases & Classifications for Chronic Mucocutaneous Candidiasis

MalaCards integrated aliases for Chronic Mucocutaneous Candidiasis:

Name: Chronic Mucocutaneous Candidiasis 12 54 60 38 30 6 15
Candidiasis, Chronic Mucocutaneous 45 74
Cmc 54 60
Candidiasis Chronic Mucocutaneous 56

Characteristics:

Orphanet epidemiological data:

60
chronic mucocutaneous candidiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:



Summaries for Chronic Mucocutaneous Candidiasis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1334Disease definitionChronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chronic Mucocutaneous Candidiasis, also known as candidiasis, chronic mucocutaneous, is related to familial candidiasis and candidiasis, familial, 2, and has symptoms including scaling of skin lesions, thickening of nails and swollen periungal tissue. An important gene associated with Chronic Mucocutaneous Candidiasis is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Phagosome. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and bone, and related phenotypes are hyperkeratosis and skin ulcer

Disease Ontology : 12 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.

Wikipedia : 77 Chronic mucocutaneous candidiasis is an immune disorder of T cells, it is characterized by chronic... more...

Related Diseases for Chronic Mucocutaneous Candidiasis

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

(show top 50) (show all 212)
# Related Disease Score Top Affiliating Genes
1 familial candidiasis 33.7 CARD9 IL17F IL17RA
2 candidiasis, familial, 2 33.4 CARD9 CLEC7A
3 autoimmune polyendocrine syndrome 30.9 AIRE IL17A IL22
4 alopecia areata 30.8 AIRE IFNG IL2RA
5 candidiasis 30.6 AIRE CARD9 CLEC7A IFNG IL10 IL17A
6 meningitis 30.5 IFNG IL10 IL6
7 myasthenia gravis 30.4 AIRE IFNG IL10
8 osteomyelitis 30.2 IFNG IL10 IL6
9 arthritis 30.2 IFNG IL10 IL17A IL6
10 systemic lupus erythematosus 30.1 IFNG IL10 IL17A IL2RA IL6 STAT1
11 periodontitis 30.1 IFNG IL10 IL17A IL6
12 immunodeficiency 31c 12.2
13 immunodeficiency 51 12.2
14 candidiasis, familial, 4 12.1
15 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.8
16 candidiasis, familial, 6 11.7
17 chudley-mccullough syndrome 11.7
18 autoimmune polyendocrine syndrome type 1 11.7
19 candidiasis, familial, 8 11.6
20 candidiasis, familial, 1 11.5
21 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.5
22 capillary malformations, congenital 11.4
23 thymoma, familial 10.5
24 thymoma 10.5
25 cephalosporin allergy 10.4 IFNG IL10
26 palladium allergic contact dermatitis 10.4 IL10 IL17A
27 acute generalized exanthematous pustulosis 10.4 IL17A IL17F IL22
28 autoimmune myocarditis 10.4 IFNG IL6
29 polyradiculoneuropathy 10.3 IFNG IL10 IL17A
30 paranasal sinus disease 10.3 IFNG IL10 IL17A
31 dermatophytosis 10.3
32 autoimmune uveitis 10.3 IFNG IL10 IL17A
33 central nervous system vasculitis 10.3 IFNG IL17A IL6
34 mumps 10.3 IFNG IL2RA STAT1
35 reactive arthritis 10.3 IFNG IL10 IL17A
36 hyperlucent lung 10.3 IFNG IL10 IL2RA
37 bacterial pneumonia 10.3 IL17A IL22 IL6
38 mixed lacrimal gland cancer 10.3 IL6 STAT3
39 allergic contact dermatitis 10.3 IFNG IL10 IL17A
40 chronic graft versus host disease 10.3 IFNG IL10 IL2RA
41 aspergillosis 10.3 CLEC7A IFNG IL10
42 cystic echinococcosis 10.3 IL10 IL17A IL6
43 autoimmune disease of eyes, ear, nose and throat 10.3 IL10 IL17A IL6
44 transverse myelitis 10.3 IL10 IL17A IL6
45 multicentric castleman disease 10.3 IFNG IL10 IL6
46 castleman disease 10.3 IFNG IL10 IL6
47 acute graft versus host disease 10.3 IFNG IL10 IL2RA
48 eye lymphoma 10.3 IL10 IL6
49 extrinsic cardiomyopathy 10.3 IL10 IL17A IL6
50 eales disease 10.3 IFNG IL10 IL6

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



Diseases related to Chronic Mucocutaneous Candidiasis

Symptoms & Phenotypes for Chronic Mucocutaneous Candidiasis

Human phenotypes related to Chronic Mucocutaneous Candidiasis:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
2 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
3 cheilitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100825
4 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
5 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
6 abnormal toenail morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0008388
7 broad nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001821
8 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
9 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034
10 dyspareunia 60 33 frequent (33%) Frequent (79-30%) HP:0030016
11 abnormal vagina morphology 33 frequent (33%) HP:0000142
12 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
13 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
14 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
15 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
16 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
17 pruritus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000989
18 abnormality of temperature regulation 60 33 occasional (7.5%) Occasional (29-5%) HP:0004370
19 hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000790
20 hemoptysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002105
21 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
22 cough 60 33 occasional (7.5%) Occasional (29-5%) HP:0012735
23 recurrent urinary tract infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0000010
24 abnormal endocardium morphology 33 occasional (7.5%) HP:0004306
25 abnormality of the eye 60 Occasional (29-5%)
26 abnormality of the nail 60 Very frequent (99-80%)
27 abnormality of the fingernails 60 Very frequent (99-80%)
28 abnormality of the endocardium 60 Occasional (29-5%)
29 abnormality of the mouth 60 Very frequent (99-80%)
30 abnormality of the immune system 60 Very frequent (99-80%)
31 recurrent infections 60 Very frequent (99-80%)
32 abnormality of the vagina 60 Frequent (79-30%)
33 abnormality of the lip 60 Very frequent (99-80%)
34 abnormality of the skin 60 Very frequent (99-80%)

Symptoms:

12
  • scaling of skin lesions
  • thickening of nails
  • swollen periungal tissue
  • scarring of the scalp

GenomeRNAi Phenotypes related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 CCR6 CLEC7A IL17A IL17RC IL23A IL2RA

MGI Mouse Phenotypes related to Chronic Mucocutaneous Candidiasis:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 AIRE CARD9 CCR6 CLEC7A IFNG IL10
2 digestive/alimentary MP:0005381 10.36 AIRE CLEC7A IFNG IL10 IL17A IL17F
3 immune system MP:0005387 10.36 AIRE CARD9 CCR6 CLEC7A IFNG IL10
4 homeostasis/metabolism MP:0005376 10.34 AIRE CARD9 CCR6 CLEC7A IFNG IL10
5 growth/size/body region MP:0005378 10.26 AIRE IFNG IL10 IL17A IL17F IL17RB
6 endocrine/exocrine gland MP:0005379 10.19 AIRE IFNG IL10 IL17A IL23R IL2RA
7 mortality/aging MP:0010768 10.15 AIRE CLEC7A IFNG IL10 IL17A IL17F
8 neoplasm MP:0002006 9.97 AIRE IFNG IL10 IL17RA IL23A IL23R
9 normal MP:0002873 9.81 AIRE CCR6 IFNG IL10 IL17F IL17RC
10 no phenotypic analysis MP:0003012 9.8 AIRE IFNG IL10 IL17A IL17RA IL23A
11 respiratory system MP:0005388 9.73 AIRE CLEC7A IFNG IL10 IL17A IL17F
12 vision/eye MP:0005391 9.23 AIRE IFNG IL10 IL2RA IL6 STAT1

Drugs & Therapeutics for Chronic Mucocutaneous Candidiasis

Drugs for Chronic Mucocutaneous Candidiasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2 Antifungal Agents Phase 3,Phase 2
3
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
4 Antiparasitic Agents Phase 2
5 Anti-Bacterial Agents Phase 2
6 Antiprotozoal Agents Phase 2
7 Liposomal amphotericin B Phase 2
8 Anti-Infective Agents Phase 2
9 Autoantibodies Phase 2,Phase 1
10
rituximab Approved Phase 1 174722-31-7 10201696
11
carbamide peroxide Approved Phase 1 124-43-6
12 Antibodies Phase 1
13 Immunoglobulins Phase 1
14 Antirheumatic Agents Phase 1
15 Immunologic Factors Phase 1
16 Antineoplastic Agents, Immunological Phase 1
17 Antibodies, Monoclonal Phase 1
18
Epinephrine Approved, Vet_approved 51-43-4 5816
19
Racepinephrine Approved 329-65-7 838
20 Antibiotics, Antitubercular
21 Epinephryl borate
22 Tin Fluorides

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-Label Study to Evaluate Efficacy and Safety of SCY-078 in Patients With Refractory or Intolerant Fungal Diseases Recruiting NCT03059992 Phase 3 SCY-078
2 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
3 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab/Rituxan
4 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
5 Natural History of Individuals With Immune System Problems That Lead to Fungal Infections Recruiting NCT01386437
6 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056

Search NIH Clinical Center for Chronic Mucocutaneous Candidiasis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: candidiasis, chronic mucocutaneous

Genetic Tests for Chronic Mucocutaneous Candidiasis

Genetic tests related to Chronic Mucocutaneous Candidiasis:

# Genetic test Affiliating Genes
1 Chronic Mucocutaneous Candidiasis 30

Anatomical Context for Chronic Mucocutaneous Candidiasis

MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

42
Skin, T Cells, Bone, Eye, Lung, Bone Marrow, Heart

The Foundational Model of Anatomy Ontology organs/tissues related to Chronic Mucocutaneous Candidiasis:

20
Skin, Mucous Membrane, Nail Due To T-Cell Defects

Publications for Chronic Mucocutaneous Candidiasis

Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50) (show all 278)
# Title Authors Year
1
Immunologic characterization of patients with chronic mucocutaneous candidiasis disease. ( 30656037 )
2019
2
The Skin as a Window into Primary Immune Deficiency Diseases: Atopic Dermatitis and Chronic Mucocutaneous Candidiasis. ( 30832893 )
2019
3
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. ( 29702748 )
2019
4
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. ( 30510552 )
2018
5
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation. ( 29934865 )
2018
6
HDAC inhibitors modulate innate immune responses to micro-organisms relevant to chronic mucocutaneous candidiasis. ( 30069986 )
2018
7
Chronic mucocutaneous candidiasis-more than just skin deep. ( 30100585 )
2018
8
Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism? ( 29076381 )
2018
9
Chronic mucocutaneous candidiasis, a case study and literature review. ( 29500032 )
2018
10
Vessel wall MRI revealing inflammation on brain aneurysm associated to chronic mucocutaneous candidiasis. ( 28992729 )
2017
11
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. ( 29259832 )
2017
12
Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1. ( 29270166 )
2017
13
Chronic Mucocutaneous Candidiasis. ( 28065688 )
2017
14
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation. ( 28348565 )
2017
15
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. ( 28597685 )
2017
16
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. ( 27808400 )
2017
17
CMCD: Chronic Mucocutaneous Candidiasis Disease. ( 28603201 )
2017
18
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. ( 28090315 )
2016
19
Treatment options for chronic mucocutaneous candidiasis. ( 27161991 )
2016
20
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
21
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. ( 26604104 )
2016
22
Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility. ( 26621323 )
2016
23
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease. ( 26732859 )
2016
24
Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation. ( 26787170 )
2016
25
Clonal Strain Persistence of Candida albicans Isolates from Chronic Mucocutaneous Candidiasis Patients. ( 26849050 )
2016
26
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. ( 26948078 )
2016
27
Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease. ( 26981552 )
2016
28
Chronic mucocutaneous candidiasis presenting as Candida endophthalmitis. ( 27085277 )
2016
29
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. ( 26494717 )
2015
30
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. ( 26514428 )
2015
31
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. ( 25918342 )
2015
32
Immunotherapy with G-CSF in patients with chronic mucocutaneous candidiasis. ( 25999307 )
2015
33
Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation. ( 26080282 )
2015
34
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). ( 26255980 )
2015
35
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. ( 25662309 )
2015
36
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. ( 25042743 )
2014
37
Chronic mucocutaneous candidiasis: a case with exuberant cutaneous horns in nipples. ( 25054753 )
2014
38
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. ( 25288569 )
2014
39
IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation. ( 24335902 )
2014
40
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. ( 24343863 )
2014
41
Altered immune responses in patients with chronic mucocutaneous candidiasis. ( 24582143 )
2014
42
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
43
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. ( 24240291 )
2013
44
Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3. ( 23541088 )
2013
45
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. ( 23709754 )
2013
46
Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. ( 23791509 )
2013
47
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. ( 24120361 )
2013
48
Fungal granuloma of the brain in a case of chronic mucocutaneous candidiasis. ( 22724885 )
2012
49
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. ( 22730530 )
2012
50
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. ( 22847544 )
2012

Variations for Chronic Mucocutaneous Candidiasis

ClinVar genetic disease variations for Chronic Mucocutaneous Candidiasis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT1 NM_007315.3(STAT1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs387906760 GRCh37 Chromosome 2, 191859910: 191859910
2 STAT1 NM_007315.3(STAT1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs387906760 GRCh38 Chromosome 2, 190995184: 190995184

Expression for Chronic Mucocutaneous Candidiasis

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

Pathways for Chronic Mucocutaneous Candidiasis

Pathways related to Chronic Mucocutaneous Candidiasis according to KEGG:

38
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621
2 Phagosome hsa04145
3 Cytokine-cytokine receptor interaction hsa04060
4 Chemokine signaling pathway hsa04062
5 Toll-like receptor signaling pathway hsa04620
6 JAK-STAT signaling pathway hsa04630

Pathways related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 CARD9 CCR6 CLEC7A IFNG IL10 IL17A
2
Show member pathways
13.88 CCR6 IL10 IL17A IL17RA IL17RC IL22
3
Show member pathways
13.71 CCR6 IFNG IL10 IL17A IL17F IL17RA
4
Show member pathways
13.56 IFNG IL10 IL17A IL17RC IL22 IL23A
5
Show member pathways
13.47 CCR6 IL10 IL17A IL17RA IL17RC IL22
6
Show member pathways
13.36 CCR6 IL10 IL17A IL17RA IL17RC IL22
7
Show member pathways
13.28 IFNG IL10 IL17A IL17F IL17RA IL17RB
8
Show member pathways
12.93 IFNG IL10 IL17A IL22 IL2RA IL6
9 12.89 IFNG IL23A IL23R IL2RA IL6 STAT1
10
Show member pathways
12.78 IL22 IL2RA IL6 STAT1 STAT3
11
Show member pathways
12.66 IFNG IL10 IL17A IL17F IL23A IL23R
12 12.65 CARD9 IFNG IL10 IL17A IL2RA STAT1
13
Show member pathways
12.55 IFNG IL10 IL17A IL6
14
Show member pathways
12.53 IFNG IL10 IL17A IL17F IL22 IL23A
15
Show member pathways
12.48 IFNG IL10 IL22 IL23A IL23R IL2RA
16
Show member pathways
12.39 IFNG IL17A IL17F IL17RA IL17RB IL17RC
17 12.35 CARD9 CLEC7A IFNG IL10 IL23A IL6
18
Show member pathways
12.31 IFNG IL6 STAT1 STAT3
19
Show member pathways
12.31 IFNG IL10 IL17A IL2RA IL6 STAT1
20
Show member pathways
12.3 CARD9 CLEC7A IL10 IL23A IL6 STAT1
21
Show member pathways
12.27 IFNG IL10 STAT1 STAT3
22 12.2 IFNG IL6 STAT1 STAT3
23
Show member pathways
12.14 IFNG IL10 IL17A IL17RC IL22 IL23A
24
Show member pathways
12.1 IFNG IL2RA STAT1 STAT3
25 12.03 IFNG IL10 IL2RA IL6
26 12.03 IL10 IL17A IL17F IL23A IL23R IL6
27
Show member pathways
12.02 IFNG IL2RA STAT1 STAT3
28 11.98 IFNG IL10 IL23R IL2RA IL6 STAT1
29
Show member pathways
11.97 IFNG IL10 IL17A IL17F IL22 IL23A
30 11.91 IFNG IL17A IL23A IL6
31 11.89 IFNG IL6 STAT3
32 11.89 IL6 STAT1 STAT3
33 11.87 IFNG IL10 IL6
34 11.84 IFNG IL10 IL17RA IL23A IL6
35 11.82 IFNG IL10 IL17A IL23A IL6
36 11.8 IFNG IL6 STAT1
37 11.76 IL10 IL23A IL6
38
Show member pathways
11.64 IL6 STAT1 STAT3
39 11.63 IFNG STAT1 STAT3
40 11.61 IFNG IL23A IL6
41 11.58 IL2RA IL6 STAT1 STAT3
42
Show member pathways
11.58 IL17A IL17F IL17RA IL17RC IL23A IL23R
43 11.57 IFNG IL10 IL17RB IL2RA
44 11.55 IL10 IL6 STAT3
45 11.55 IFNG IL10 IL6
46
Show member pathways
11.52 IL2RA STAT1 STAT3
47 11.44 IFNG IL17A IL22 IL23A IL6
48 11.42 IFNG IL10 IL6
49 11.39 IL10 IL6 STAT3
50 11.3 IFNG IL10 IL6

GO Terms for Chronic Mucocutaneous Candidiasis

Cellular components related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 IFNG IL10 IL17A IL17F IL17RA IL17RB

Biological processes related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.95 CARD9 IFNG IL23A IL6 STAT1
2 defense response to Gram-negative bacterium GO:0050829 9.87 IL23A IL23R IL6
3 positive regulation of inflammatory response GO:0050729 9.86 IL17RA IL17RB IL23A
4 response to glucocorticoid GO:0051384 9.85 IL10 IL22 IL6
5 cellular response to cytokine stimulus GO:0071345 9.83 IL17RA STAT1 STAT3
6 positive regulation of T cell proliferation GO:0042102 9.83 IL23A IL23R IL2RA IL6
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 IFNG IL23A IL23R IL6 STAT3
8 inflammatory response GO:0006954 9.81 CLEC7A IL10 IL17A IL17F IL22 IL23A
9 acute-phase response GO:0006953 9.79 IL22 IL6 STAT3
10 defense response to fungus GO:0050832 9.77 IL17A IL17RA IL17RC
11 positive regulation of activated T cell proliferation GO:0042104 9.77 IL23A IL23R IL2RA
12 positive regulation of defense response to virus by host GO:0002230 9.76 IL23A IL23R STAT1 TRAF3IP2
13 positive regulation of interleukin-12 production GO:0032735 9.74 IFNG IL23A IL23R
14 positive regulation of interleukin-6 secretion GO:2000778 9.73 IL17A IL17F IL17RC
15 humoral immune response GO:0006959 9.72 AIRE CCR6 IFNG IL6 TRAF3IP2
16 regulation of regulatory T cell differentiation GO:0045589 9.71 IFNG IL2RA
17 negative regulation of interleukin-10 production GO:0032693 9.71 IL23A IL23R
18 interleukin-6-mediated signaling pathway GO:0070102 9.71 IL6 STAT1 STAT3
19 positive regulation of interleukin-17 production GO:0032740 9.7 IL23A IL23R
20 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.7 IFNG STAT1
21 interleukin-27-mediated signaling pathway GO:0070106 9.7 STAT1 STAT3
22 interleukin-35-mediated signaling pathway GO:0070757 9.69 STAT1 STAT3
23 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.69 IL23A IL23R
24 interleukin-23-mediated signaling pathway GO:0038155 9.69 IL23A IL23R STAT3
25 positive regulation of T-helper 1 type immune response GO:0002827 9.68 IL23A IL23R
26 interleukin-9-mediated signaling pathway GO:0038113 9.68 STAT1 STAT3
27 interleukin-21-mediated signaling pathway GO:0038114 9.68 STAT1 STAT3
28 positive regulation of activation of Janus kinase activity GO:0010536 9.67 IL23A IL23R
29 positive regulation of natural killer cell proliferation GO:0032819 9.67 IL23A IL23R
30 positive regulation of T-helper 17 type immune response GO:2000318 9.67 IL23A IL23R
31 positive regulation of osteoclast differentiation GO:0045672 9.67 IFNG IL17A IL23A IL23R
32 response to peptidoglycan GO:0032494 9.66 CARD9 IL6
33 positive regulation of interleukin-13 secretion GO:2000667 9.65 IL17RA IL17RB
34 positive regulation of interleukin-5 secretion GO:2000664 9.65 IL17RA IL17RB
35 positive regulation of memory T cell differentiation GO:0043382 9.65 IL23A IL23R
36 positive regulation of interleukin-23 production GO:0032747 9.65 IFNG IL17A IL17RA
37 positive regulation of NK T cell activation GO:0051135 9.64 IL23A IL23R
38 regulation of tyrosine phosphorylation of STAT protein GO:0042509 9.64 IL23A IL23R
39 T-helper 17 cell lineage commitment GO:0072540 9.63 IL6 STAT3
40 granulocyte chemotaxis GO:0071621 9.63 IL17RA IL17RC
41 positive regulation of T-helper 17 cell lineage commitment GO:2000330 9.62 IL23A IL23R
42 fibroblast activation GO:0072537 9.61 IL17A IL17RA
43 regulation of interleukin-6 biosynthetic process GO:0045408 9.61 CARD9 IL17F
44 regulation of interleukin-2 biosynthetic process GO:0045076 9.58 CARD9 IL17F
45 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.56 IL17A IL17F IL17RA IL17RC
46 interleukin-17-mediated signaling pathway GO:0097400 9.35 IL17A IL17F IL17RA IL17RB IL17RC
47 cytokine-mediated signaling pathway GO:0019221 9.32 IL10 IL17A IL17F IL22 IL23A IL23R
48 positive regulation of transcription by RNA polymerase II GO:0045944 10.18 AIRE IL10 IL17A IL17F IL23A IL6
49 regulation of signaling receptor activity GO:0010469 10.04 IFNG IL10 IL17A IL17F IL22 IL23A
50 immune response GO:0006955 10.01 AIRE CCR6 IFNG IL10 IL17A IL23A

Molecular functions related to Chronic Mucocutaneous Candidiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.17 IFNG IL10 IL17A IL17F IL22 IL23A
2 CCR5 chemokine receptor binding GO:0031730 9.16 STAT1 STAT3
3 interleukin-17 receptor activity GO:0030368 9.13 IL17RA IL17RB IL17RC
4 protein binding GO:0005515 10.19 AIRE CARD9 CCR6 CLEC7A IFNG IL10

Sources for Chronic Mucocutaneous Candidiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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