CMC
MCID: CHR063
MIFTS: 66

Chronic Mucocutaneous Candidiasis (CMC)

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, mucous membrane and nail due to t-cell defects, and related phenotypes are hyperkeratosis and abnormality of the fingernails

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 214)
# Related Disease Score Top Affiliating Genes
1 familial candidiasis 33.7 CARD9 IL17F IL17RA
2 candidiasis, familial, 2 33.3 CARD9 CLEC7A
3 alopecia areata 30.8 AIRE IFNG IL2RA
4 autoimmune polyendocrine syndrome 30.8 AIRE IL17A IL22
5 meningitis 30.7 IFNG IL10 IL6
6 candidiasis 30.6 AIRE CARD9 CLEC7A IFNG IL10 IL17A
7 myasthenia gravis 30.4 AIRE IFNG IL10
8 osteomyelitis 30.2 IFNG IL10 IL6
9 periodontitis 30.2 IFNG IL10 IL17A IL6
10 dermatitis, atopic 30.2 IFNG IL10 IL17A IL18
11 joint disorders 30.1 CSF1 IL17A IL6
12 dermatitis 30.1 IFNG IL17A IL18 STAT3
13 aplastic anemia 30.1 CSF1 IFNG IL6 STAT3
14 systemic lupus erythematosus 29.5 CSF1 IFNG IL10 IL17A IL18 IL2RA
15 arthritis 29.4 CSF1 IFNG IL10 IL17A IL18 IL6
16 candidiasis, familial, 4 12.1
17 immunodeficiency 51 12.0
18 immunodeficiency 31c 12.0
19 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.8
20 candidiasis, familial, 1 11.4
21 candidiasis, familial, 6 11.4
22 candidiasis, familial, 8 11.3
23 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.3
24 capillary malformations, congenital 11.3
25 chudley-mccullough syndrome 11.3
26 thymoma 10.5
27 cephalosporin allergy 10.4 IFNG IL10
28 acute generalized exanthematous pustulosis 10.4 IL17A IL17F IL22
29 palladium allergic contact dermatitis 10.4 IL10 IL17A
30 polyradiculoneuropathy 10.3 IFNG IL10 IL17A
31 paranasal sinus disease 10.3 IFNG IL10 IL17A
32 central nervous system vasculitis 10.3 IFNG IL17A IL6
33 autoimmune uveitis 10.3 IFNG IL10 IL17A
34 autoimmune myocarditis 10.3 IFNG IL6
35 reactive arthritis 10.3 IFNG IL10 IL17A
36 mumps 10.3 IFNG IL2RA STAT1
37 hyperlucent lung 10.3 IFNG IL10 IL2RA
38 hemorrhagic fever 10.3 IFNG IL10 IL6
39 chronic graft versus host disease 10.3 IFNG IL10 IL2RA
40 bacterial pneumonia 10.3 IL17A IL22 IL6
41 cystic echinococcosis 10.3 IL10 IL17A IL6
42 mixed lacrimal gland cancer 10.3 IL6 STAT3
43 autoimmune disease of eyes, ear, nose and throat 10.3 IL10 IL17A IL6
44 transverse myelitis 10.3 IL10 IL17A IL6
45 allergic contact dermatitis 10.3 IFNG IL10 IL17A
46 multicentric castleman disease 10.3 IFNG IL10 IL6
47 aspergillosis 10.3 CLEC7A IFNG IL10
48 castleman disease 10.3 IFNG IL10 IL6
49 eales disease 10.3 IFNG IL10 IL6
50 extrinsic cardiomyopathy 10.3 IL10 IL17A 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 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
2 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231
3 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
4 cheilitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100825
5 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
6 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
7 abnormal toenail morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0008388
8 broad nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001821
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 endocardium 60 Occasional (29-5%)
28 abnormality of the mouth 60 Very frequent (99-80%)
29 abnormality of the immune system 60 Very frequent (99-80%)
30 recurrent infections 60 Very frequent (99-80%)
31 abnormality of the vagina 60 Frequent (79-30%)
32 abnormality of the lip 60 Very frequent (99-80%)
33 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 9.28 CCR6 CLEC7A CSF1 IL17A IL17RC IL23A

MGI Mouse Phenotypes related to Chronic Mucocutaneous Candidiasis:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.45 AIRE CARD9 CCR6 CLEC7A CSF1 IFNG
2 homeostasis/metabolism MP:0005376 10.43 AIRE CARD9 CCR6 CLEC7A CSF1 IFNG
3 immune system MP:0005387 10.43 AIRE CARD9 CCR6 CLEC7A CSF1 IFNG
4 digestive/alimentary MP:0005381 10.38 AIRE CLEC7A IFNG IL10 IL17A IL17F
5 growth/size/body region MP:0005378 10.32 AIRE CSF1 IFNG IL10 IL17A IL17F
6 endocrine/exocrine gland MP:0005379 10.26 AIRE CSF1 IFNG IL10 IL17A IL23R
7 mortality/aging MP:0010768 10.21 AIRE CLEC7A CSF1 IFNG IL10 IL17A
8 craniofacial MP:0005382 10.09 CSF1 IFNG IL10 IL17A IL17F STAT3
9 integument MP:0010771 10.09 CSF1 IFNG IL10 IL17RA IL18 IL6
10 neoplasm MP:0002006 9.97 AIRE IFNG IL10 IL17RA IL23A IL23R
11 liver/biliary system MP:0005370 9.95 AIRE CSF1 IFNG IL10 IL6 STAT1
12 no phenotypic analysis MP:0003012 9.86 AIRE CSF1 IFNG IL10 IL17A IL17RA
13 normal MP:0002873 9.81 AIRE CCR6 IFNG IL10 IL17F IL17RC
14 respiratory system MP:0005388 9.73 AIRE CLEC7A CSF1 IFNG IL10 IL17A
15 vision/eye MP:0005391 9.32 AIRE CSF1 IFNG IL10 IL18 IL2RA

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 14956 5280965
4 Autoantibodies Phase 2,Phase 1
5 Antiprotozoal Agents Phase 2
6 Antiparasitic Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Liposomal amphotericin B Phase 2
9 Anti-Bacterial Agents Phase 2
10
carbamide peroxide Approved Phase 1 124-43-6
11
rituximab Approved Phase 1 174722-31-7 10201696
12 Immunoglobulins Phase 1
13 Antibodies, Monoclonal Phase 1
14 Antineoplastic Agents, Immunological Phase 1
15 Antibodies Phase 1
16 Immunologic Factors Phase 1
17 Antirheumatic Agents Phase 1
18
Epinephrine Approved, Vet_approved 51-43-4 5816
19
Racepinephrine Approved 329-65-7 838
20 Tin Fluorides
21 Epinephryl borate
22 Antibiotics, Antitubercular

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

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

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

MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

42
Skin, T Cells, Eye, Neutrophil, Bone, Bone Marrow, Thymus

Publications for Chronic Mucocutaneous Candidiasis

Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50) (show all 276)
# 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 )
2018
4
Chronic mucocutaneous candidiasis, a case study and literature review. ( 29500032 )
2018
5
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation. ( 29934865 )
2018
6
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. ( 30510552 )
2018
7
HDAC inhibitors modulate innate immune responses to micro-organisms relevant to chronic mucocutaneous candidiasis. ( 30069986 )
2018
8
Chronic mucocutaneous candidiasis-more than just skin deep. ( 30100585 )
2018
9
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation. ( 28348565 )
2017
10
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. ( 28597685 )
2017
11
Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism? ( 29076381 )
2017
12
CMCD: Chronic Mucocutaneous Candidiasis Disease. ( 28603201 )
2017
13
Vessel wall MRI revealing inflammation on brain aneurysm associated to chronic mucocutaneous candidiasis. ( 28992729 )
2017
14
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. ( 27808400 )
2017
15
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
16
Gain-of-Function Mutations in<i>STAT1</i>: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. ( 29259832 )
2017
17
Chronic Mucocutaneous Candidiasis. ( 28065688 )
2017
18
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
19
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. ( 26604104 )
2016
20
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
21
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. ( 26948078 )
2016
22
Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease. ( 26981552 )
2016
23
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease. ( 26732859 )
2016
24
Treatment options for chronic mucocutaneous candidiasis. ( 27161991 )
2016
25
Chronic mucocutaneous candidiasis presenting as Candida endophthalmitis. ( 27085277 )
2016
26
Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation. ( 26787170 )
2016
27
Clonal Strain Persistence of Candida albicans Isolates from Chronic Mucocutaneous Candidiasis Patients. ( 26849050 )
2016
28
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. ( 28090315 )
2016
29
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-I^-mediated responses in chronic mucocutaneous candidiasis. ( 26514428 )
2015
30
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
31
Immunotherapy with G-CSF in patients with chronic mucocutaneous candidiasis. ( 25999307 )
2015
32
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. ( 26494717 )
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
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. ( 25918342 )
2015
36
Altered immune responses in patients with chronic mucocutaneous candidiasis. ( 24582143 )
2014
37
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
38
Chronic mucocutaneous candidiasis: a case with exuberant cutaneous horns in nipples. ( 25054753 )
2014
39
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
40
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. ( 24343863 )
2013
41
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. ( 24240291 )
2013
42
IL-17 T Cells' Defective Differentiation In Vitro Despite Normal Range Ex Vivo in Chronic Mucocutaneous Candidiasis Due to STAT1 Mutation. ( 24335902 )
2013
43
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
44
Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. ( 23791509 )
2013
45
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. ( 23709754 )
2013
46
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
47
Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis? ( 21988702 )
2012
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
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. ( 23026768 )
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 62)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 CARD9 CCR6 CLEC7A CSF1 IFNG IL10
2
Show member pathways
13.93 CCR6 CSF1 IL10 IL17A IL17RA IL17RC
3
Show member pathways
13.75 CCR6 CSF1 IFNG IL10 IL17A IL17F
4
Show member pathways
13.62 IFNG IL10 IL17A IL17RC IL18 IL22
5
Show member pathways
13.45 CCR6 CSF1 IL10 IL17A IL17RA IL17RC
6
Show member pathways
13.41 CCR6 CSF1 IL10 IL17A IL17RA IL17RC
7
Show member pathways
13.35 CSF1 IFNG IL10 IL17A IL17F IL17RA
8
Show member pathways
13.21 CARD9 IFNG IL10 IL18 IL6 STAT1
9
Show member pathways
12.98 IFNG IL10 IL17A IL18 IL22 IL2RA
10 12.94 IFNG IL23A IL23R IL2RA IL6 STAT1
11
Show member pathways
12.79 IL22 IL2RA IL6 STAT1 STAT3
12 12.68 CARD9 IFNG IL10 IL17A IL2RA STAT1
13
Show member pathways
12.66 IFNG IL10 IL17A IL17F IL18 IL23A
14
Show member pathways
12.63 IFNG IL18 IL2RA IL6 STAT1 STAT3
15
Show member pathways
12.57 IFNG IL10 IL17A IL17F IL18 IL22
16
Show member pathways
12.53 IFNG IL10 IL22 IL23A IL23R IL2RA
17
Show member pathways
12.48 IFNG IL17A IL17F IL17RA IL17RC IL6
18
Show member pathways
12.43 IFNG IL10 IL17A IL6
19
Show member pathways
12.38 IFNG IL10 IL17A IL18 IL2RA IL6
20 12.38 CARD9 CLEC7A IFNG IL10 IL18 IL23A
21
Show member pathways
12.33 CARD9 CLEC7A IL10 IL23A IL6 STAT1
22
Show member pathways
12.32 IFNG IL6 STAT1 STAT3
23
Show member pathways
12.28 IFNG IL10 STAT1 STAT3
24 12.22 IFNG IL6 STAT1 STAT3
25
Show member pathways
12.16 IFNG IL10 IL17A IL17RC IL18 IL22
26 12.12 CSF1 IFNG IL10 IL2RA IL6
27
Show member pathways
12.11 IFNG IL2RA STAT1 STAT3
28
Show member pathways
12.11 IFNG IL18 IL2RA STAT1 STAT3
29 12.05 IFNG IL10 IL23R IL2RA IL6 STAT1
30 12.03 CSF1 IFNG IL17A IL18 IL23A IL6
31 12.03 IL10 IL17A IL17F IL18 IL23A IL23R
32
Show member pathways
12.01 IFNG IL10 IL17A IL17F IL18 IL22
33 11.93 CSF1 IFNG IL10 IL17RA IL23A IL6
34 11.91 IFNG IL6 STAT3
35 11.9 IL6 STAT1 STAT3
36 11.9 IFNG IL10 IL17A IL18 IL23A IL6
37 11.89 CSF1 IL2RA IL6
38 11.88 IFNG IL10 IL6
39 11.83 IFNG IL18 IL6
40 11.81 IFNG IL6 STAT1
41 11.77 IL10 IL23A IL6
42 11.69 CSF1 IL10 IL18 IL6 STAT3
43 11.66 IFNG IL10 IL18 IL6
44
Show member pathways
11.65 IL6 STAT1 STAT3
45 11.65 IFNG STAT1 STAT3
46 11.64 IL2RA IL6 STAT1 STAT3
47 11.62 IFNG IL23A IL6
48
Show member pathways
11.58 IL17A IL17F IL17RA IL17RC IL23A IL23R
49 11.55 CSF1 IFNG IL18
50
Show member pathways
11.53 IL2RA STAT1 STAT3

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 space GO:0005615 9.61 CSF1 IFNG IL10 IL17A IL17F IL18
2 extracellular region GO:0005576 9.32 CSF1 IFNG IL10 IL17A IL17F IL17RA

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.99 CARD9 IFNG IL23A IL6 STAT1
2 regulation of signaling receptor activity GO:0010469 9.97 CSF1 IFNG IL10 IL17A IL17F IL18
3 defense response to Gram-negative bacterium GO:0050829 9.89 IL23A IL23R IL6
4 positive regulation of inflammatory response GO:0050729 9.89 IL17RA IL18 IL23A
5 cellular response to organic cyclic compound GO:0071407 9.88 IL18 STAT1 STAT3
6 response to glucocorticoid GO:0051384 9.88 IL10 IL22 IL6
7 positive regulation of T cell proliferation GO:0042102 9.88 IL23A IL23R IL2RA IL6
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.86 IL18 IL6 STAT1
9 cellular response to cytokine stimulus GO:0071345 9.86 IL17RA STAT1 STAT3
10 humoral immune response GO:0006959 9.85 AIRE CCR6 IFNG IL6 TRAF3IP2
11 positive regulation of interferon-gamma production GO:0032729 9.83 IL18 IL23A IL23R
12 acute-phase response GO:0006953 9.81 IL22 IL6 STAT3
13 positive regulation of activated T cell proliferation GO:0042104 9.8 IL18 IL23A IL23R IL2RA
14 defense response to fungus GO:0050832 9.79 IL17A IL17RA IL17RC
15 positive regulation of interleukin-12 production GO:0032735 9.78 IFNG IL23A IL23R
16 positive regulation of defense response to virus by host GO:0002230 9.78 IL23A IL23R STAT1 TRAF3IP2
17 positive regulation of interleukin-6 secretion GO:2000778 9.77 IL17A IL17F IL17RC
18 interleukin-6-mediated signaling pathway GO:0070102 9.76 IL6 STAT1 STAT3
19 positive regulation of interleukin-17 production GO:0032740 9.74 IL18 IL23A IL23R
20 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.73 IL18 IL23A IL23R
21 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.73 IL17A IL17F IL17RA IL17RC
22 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 IFNG IL18 IL23A IL23R IL6 STAT3
23 negative regulation of interleukin-10 production GO:0032693 9.72 IL23A IL23R
24 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.72 IFNG STAT1
25 interleukin-27-mediated signaling pathway GO:0070106 9.71 STAT1 STAT3
26 interleukin-35-mediated signaling pathway GO:0070757 9.71 STAT1 STAT3
27 positive regulation of T-helper 1 type immune response GO:0002827 9.71 IL23A IL23R
28 interleukin-9-mediated signaling pathway GO:0038113 9.71 STAT1 STAT3
29 interleukin-23-mediated signaling pathway GO:0038155 9.71 IL23A IL23R STAT3
30 interleukin-21-mediated signaling pathway GO:0038114 9.7 STAT1 STAT3
31 positive regulation of natural killer cell proliferation GO:0032819 9.7 IL18 IL23A IL23R
32 inflammatory response GO:0006954 9.7 CLEC7A CSF1 IL10 IL17A IL17F IL18
33 positive regulation of activation of Janus kinase activity GO:0010536 9.69 IL23A IL23R
34 positive regulation of T-helper 17 type immune response GO:2000318 9.69 IL23A IL23R
35 response to peptidoglycan GO:0032494 9.69 CARD9 IL6
36 positive regulation of interleukin-23 production GO:0032747 9.69 IFNG IL17A IL17RA
37 positive regulation of memory T cell differentiation GO:0043382 9.68 IL23A IL23R
38 positive regulation of neuroinflammatory response GO:0150078 9.68 IL18 IL6
39 positive regulation of NK T cell activation GO:0051135 9.67 IL23A IL23R
40 positive regulation of tissue remodeling GO:0034105 9.67 IL18 IL23A
41 regulation of tyrosine phosphorylation of STAT protein GO:0042509 9.67 IL23A IL23R
42 interleukin-17-mediated signaling pathway GO:0097400 9.67 IL17A IL17F IL17RA IL17RC
43 T-helper 17 cell lineage commitment GO:0072540 9.66 IL6 STAT3
44 granulocyte chemotaxis GO:0071621 9.66 IL17RA IL17RC
45 positive regulation of NK T cell proliferation GO:0051142 9.65 IL18 IL23A
46 positive regulation of T-helper 17 cell lineage commitment GO:2000330 9.64 IL23A IL23R
47 type 2 immune response GO:0042092 9.64 IL10 IL18
48 fibroblast activation GO:0072537 9.63 IL17A IL17RA
49 regulation of interleukin-6 biosynthetic process GO:0045408 9.62 CARD9 IL17F
50 regulation of interleukin-2 biosynthetic process GO:0045076 9.61 CARD9 IL17F

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 AIRE CARD9 CCR6 CLEC7A CSF1 IFNG
2 cytokine activity GO:0005125 9.28 CSF1 IFNG IL10 IL17A IL17F IL18
3 CCR5 chemokine receptor binding GO:0031730 9.26 STAT1 STAT3
4 interleukin-17 receptor activity GO:0030368 9.16 IL17RA IL17RC

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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