MCID: CHR063
MIFTS: 61

Chronic Mucocutaneous Candidiasis malady

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

Aliases & Classifications for Chronic Mucocutaneous Candidiasis

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Chronic Mucocutaneous Candidiasis:

Name: Chronic Mucocutaneous Candidiasis 11 48 54 27 13
Candidiasis, Chronic Mucocutaneous 39 68
 
Cmc 48 54
Candidiasis Chronic Mucocutaneous 50

Characteristics:

Orphanet epidemiological data:

54
chronic mucocutaneous candidiasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy

Classifications:



External Ids:

Disease Ontology11 DOID:2058
MeSH39 D002178
NCIt45 C34444
Orphanet54 ORPHA1334
SNOMED-CT62 234568006
UMLS via Orphanet69 C0006845
ICD10 via Orphanet31 B37.2
MESH via Orphanet40 D002178

Summaries for Chronic Mucocutaneous Candidiasis

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Disease Ontology:11 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 candidiasis, chronic mucocutaneous, is related to candidiasis and alopecia, 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 IL6-mediated signaling events and Interleukin-6 family signaling. The drugs gentian violet and fluconazole 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 craniofacial and liver/biliary system.

Wikipedia:71 Chronic mucocutaneous candidiasis is an immune disorder of T cells. It is characterized by chronic... more...

Related Diseases for Chronic Mucocutaneous Candidiasis

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

(show top 50)    (show all 289)
idRelated DiseaseScoreTop Affiliating Genes
1candidiasis31.4IL1B, IL6, TNF
2alopecia30.4IL10, IL6, TNF
3hypothyroidism30.1IL1B, IL6, TNF
4autoimmune polyendocrine syndrome30.0IL1B, IL6, TNF
5systemic lupus erythematosus29.5IFNG, IL10, IL2RA, IL6, TNF
6familial candidiasis11.8
7immunodeficiency 31c, autosomal dominant11.7
8candidiasis, familial, 811.7
9candidiasis, familial, 2, autosomal recessive11.4
10candidiasis, familial, 4, autosomal recessive11.4
11candidiasis, familial, 6, autosomal dominant11.3
12candidiasis, familial, 5, autosomal recessive11.3
13autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia11.2
14chronic polyneuropathy10.6IFNG, IL17A, STAT1
15rasmussen subacute encephalitis10.6IL17A, IL17F, IL22
16nevus mucinosis10.5IL10, IL17A
17tetanus neonatorum10.5IFNG, IL10, IL17A
18eye accommodation disease10.5IFNG, IL10, IL2RA
19progressive relapsing multiple sclerosis10.5IFNG, IL10, IL17A
20chronic hiccups10.5IFNG, IL10, IL2RA
21idiopathic neutropenia10.5IFNG, IL10, IL6
22piepkorn karp hickok syndrome10.5IL10, TNF
23benign adult familial myoclonic epilepsy10.4IL10, IL2RA, IL6
24melioidosis10.4IFNG, IL10, IL6
25jejunal somatostatinoma10.4IFNG, IL10, IL6
266q terminal deletion syndrome10.4IL10, TNF
27hypertensive encephalopathy10.4IFNG, IL10, IL17A
28autoimmune myocarditis10.4IL17A, IL2RA, STAT3
29laryngeal cancer, childhood10.4IL2RA, STAT3
30atrichia with papular lesions10.4AIRE, IFNG, TNF
31dentine erosion10.4IFNG, IL1B, STAT1
32tricho odonto onycho dermal syndrome10.4IL17A, IL6, TNF
33panner disease10.4IFNG, IL6, TNF
34addison's disease10.4IFNG, IL10, TNF
35primary orthostatic tremor10.3IFNG, IL10, TNF
36herpangina10.3IFNG, IL10, IL17F, IL6
37meninges hemangiopericytoma10.3IFNG, IL10, TNF
38pasteurellosis10.3IFNG, IL6, TNF
39lymphocytic colitis10.3IFNG, IL6, TNF
40pneumonic tularemia10.3IFNG, IL10, TNF
41sensorineural hearing loss10.3IFNG, IL10, TNF
42allergic hypersensitivity disease10.3IL10, IL17A, TNF
43psychologic dyspareunia10.3IFNG, IL10, TNF
44renal cell carcinoma 410.3IFNG, IL6, TNF
45gastroduodenal crohn's disease10.3IL17A, IL6, TNF
46aortic arch interruption10.3IL6, TNF
47potter's syndrome10.3IFNG, IL2RA, TNF
48hypospadias10.3IFNG, IL10, TNF
49binocular vision disease10.3IFNG, IL10, TNF
50nervous system disease10.3IFNG, IL2RA, IL6, STAT1

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



Diseases related to chronic mucocutaneous candidiasis

Symptoms & Phenotypes for Chronic Mucocutaneous Candidiasis

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Symptoms:

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

Human phenotypes related to Chronic Mucocutaneous Candidiasis:

 54 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections54 Occasional (29-5%)
2 abnormality of the vagina54 Frequent (79-30%)
3 abnormality of the mouth54 Very frequent (99-80%)
4 abnormality of the lip54 Very frequent (99-80%)
5 abnormality of the eye54 Occasional (29-5%)
6 abnormality of vision54 Occasional (29-5%)
7 abnormality of dental enamel54 Occasional (29-5%)
8 hematuria54 Occasional (29-5%)
9 abnormality of the skin54 Very frequent (99-80%)
10 hyperkeratosis54 Very frequent (99-80%)
11 skin rash54 Very frequent (99-80%)
12 pruritus54 Occasional (29-5%)
13 abnormality of the fingernails54 Very frequent (99-80%)
14 seizures54 Occasional (29-5%)
15 abnormality of the nail54 Very frequent (99-80%)
16 broad nail54 Very frequent (99-80%)
17 hemoptysis54 Occasional (29-5%)
18 recurrent respiratory infections54 Occasional (29-5%)
19 abnormality of the immune system54 Very frequent (99-80%)
20 recurrent infections54 Very frequent (99-80%)
21 abnormality of the endocardium54 Occasional (29-5%)
22 abnormality of temperature regulation54 Occasional (29-5%)
23 abnormality of the toenails54 Very frequent (99-80%)
24 feeding difficulties in infancy54 Occasional (29-5%)
25 erythema54 Very frequent (99-80%)
26 hepatitis54 Occasional (29-5%)
27 cough54 Occasional (29-5%)
28 dyspareunia54 Frequent (79-30%)
29 cheilitis54 Very frequent (99-80%)
30 papule54 Frequent (79-30%)
31 skin ulcer54 Very frequent (99-80%)

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

41 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8CSF1, IFNG, IL10, IL17A, IL17F, TNF
2MP:00053708.3AIRE, CSF1, IFNG, IL10, IL6, STAT1
3MP:00053797.8AIRE, CSF1, IFNG, IL10, IL23R, IL6
4MP:00107717.6CSF1, IFNG, IL10, IL17RA, IL1B, IL6
5MP:00030127.5AIRE, CSF1, IFNG, IL10, IL17A, IL17RA
6MP:00020067.5AIRE, IFNG, IL10, IL17RA, IL1B, IL23A
7MP:00053847.4AIRE, CSF1, IFNG, IL10, IL17RA, IL17RB
8MP:00053917.3AIRE, CSF1, IFNG, IL10, IL6, STAT1
9MP:00053906.9CSF1, IFNG, IL10, IL17A, IL17F, IL17RB
10MP:00053886.8AIRE, CLEC7A, CSF1, IFNG, IL10, IL17A
11MP:00053816.4AIRE, CLEC7A, IFNG, IL10, IL17A, IL17F
12MP:00053786.3AIRE, CSF1, IFNG, IL10, IL17A, IL17F
13MP:00107686.0AIRE, CLEC7A, CSF1, IFNG, IL10, IL17A
14MP:00053765.8AIRE, CLEC7A, CSF1, IFNG, IL10, IL17A
15MP:00053974.8AIRE, CLEC7A, CSF1, IFNG, IL10, IL17A
16MP:00053874.6AIRE, CLEC7A, CSF1, IFNG, IL10, IL17A

Drugs & Therapeutics for Chronic Mucocutaneous Candidiasis

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Amphotericin Bapproved, investigationalPhase 21181397-89-314956, 5280965
Synonyms:
12633-72-6
1397-89-3
30782-62-8
5-18-10-00525 (Beilstein Handbook Reference)
54482-28-9
8055-20-7
AB00513832
ABLC
AC1L1CN2
AC1L24V6
AC1L70KF
AC1L73U6
AC1NQXTD
AC1NTQ32
AC1NUQG4
AC1NY9JC
AC1O7GCZ
AC1O8FQV
AC1O8PFK
AI3-26528
AMPH-B
AMPH-b
Abelcet
Abelecet
AmBisome (TN)
Ambap1397-89-3
Ambisome
Amfotericina B
Amfotericina B [INN-Spanish]
Ampho-Moronal
Amphocin
Amphomoronal
Amphortericin B
Amphotec
Amphotec (TN)
Amphotericin
Amphotericin .BETA.
Amphotericin B
Amphotericin B (JP15/USP/INN)
Amphotericin B Cholesterol Dispersion
Amphotericin B Colloidal Dispersion
Amphotericin B [USAN:INN:JAN]
Amphotericin B, Lipid-based
Amphotericin B, Streptomyces sp.
Amphotericin-B
Amphotericine B
Amphotericine B [INN-French]
Amphotericinum
Amphotericinum B
Amphotericinum B [INN-Latin]
Amphotherizin
Amphotherizin [German]
Amphotéricine B
Amphozone
BIDD:GT0351
BPBio1_000374
BRN 0078342
BSPBio_000340
C-AmB
C06573
C47H73NO17
CCRIS 5963
CHEBI:2682
CHEMBL1200646
CHEMBL267345
CID10533925
CID10629638
CID10677275
CID14956
CID1972
 
CID352546
CID354192
CID5280965
CID5386092
CID5458486
CID5771695
CID6604295
CID6708817
CID6713692
CID9919339
D00203
DB00681
DivK1c_007045
EINECS 215-742-2
Fungilin
Fungisome
Fungisone
Fungizone
Fungizone (TN)
HMS1569A22
HSDB 3008
HSDB 3008 IAB
Halizon
I06-0257
KBio1_001989
KBio2_000551
KBio2_003119
KBio2_005687
KBioGR_002298
KBioSS_000551
LMPK06000002
LNS-AmB
LS-187721
LS-93
Liposomal Amphotericin B
Liposomal amphotericin b
MLS002702966
MolPort-006-392-260
Mysteclin-F
NCGC00014913
NCGC00090808-01
NCGC00098014-01
NCGC00179595-01
NCI527017
NCI60_004288
NCIStruc1_001042
NCIStruc2_000920
NKTR-024
NS 718
NSC 527017
NSC-527017
NSC527017
Prestwick0_000410
Prestwick1_000410
Prestwick2_000410
Prestwick3_000410
Prestwick_721
SMP1_000302
SMR001566780
SPBio_000715
SPBio_002279
ST50999656
SinuNase
SpecPlus_000949
Spectrum2_000818
Spectrum4_001779
Spectrum_000111
UNII-7XU7A7DROE
amophotericin B
amphotericin B liposomal
amphotericin b
2
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3Antiprotozoal AgentsPhase 21986
4Liposomal amphotericin BPhase 2118
5AutoantibodiesPhase 2, Phase 1126
6Antiparasitic AgentsPhase 22127
7Anti-Bacterial AgentsPhase 210884
8Antifungal AgentsPhase 23615
9Anti-Infective AgentsPhase 221402
10
rituximabapprovedPhase 11654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
11ImmunoglobulinsPhase 16045
12AntibodiesPhase 16045
13Antibodies, MonoclonalPhase 13795
14Antirheumatic AgentsPhase 110627

Interventional clinical trials:

idNameStatusNCT IDPhase
1CAMB/MAT2203 in Patients With Mucocutaneous CandidiasisRecruitingNCT02629419Phase 2
2Rituximab for Anti-cytokine Autoantibody-Associated DiseasesRecruitingNCT01842386Phase 1
3Studies of Disorders With Increased Susceptibility to Fungal InfectionsRecruitingNCT01222741

Search NIH Clinical Center for Chronic Mucocutaneous Candidiasis

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: candidiasis, chronic mucocutaneous

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 Candidiasis27

Anatomical Context for Chronic Mucocutaneous Candidiasis

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MalaCards organs/tissues related to Chronic Mucocutaneous Candidiasis:

36
Skin, T cells, Eye, Neutrophil, Bone marrow, Monocytes, Lung

FMA organs/tissues related to Chronic Mucocutaneous Candidiasis:

17
Skin, Mucous membrane, Nail due to t-cell defects

Publications for Chronic Mucocutaneous Candidiasis

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Articles related to Chronic Mucocutaneous Candidiasis:

(show top 50)    (show all 258)
idTitleAuthorsYear
1
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. (27808400)
2017
2
Chronic Mucocutaneous Candidiasis. (28065688)
2017
3
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
4
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. (26948078)
2016
5
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. (27474157)
2016
6
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. (28090315)
2016
7
Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation. (26787170)
2016
8
Treatment options for chronic mucocutaneous candidiasis. (27161991)
2016
9
Chronic mucocutaneous candidiasis presenting as Candida endophthalmitis. (27085277)
2016
10
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. (26604104)
2016
11
Clonal Strain Persistence of Candida albicans Isolates from Chronic Mucocutaneous Candidiasis Patients. (26849050)
2016
12
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease. (26732859)
2016
13
Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease. (26981552)
2016
14
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). (26255980)
2015
15
Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation. (26080282)
2015
16
Immunotherapy with G-CSF in patients with chronic mucocutaneous candidiasis. (25999307)
2015
17
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. (25918342)
2015
18
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
19
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. (26494717)
2015
20
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
21
Chronic mucocutaneous candidiasis: a case with exuberant cutaneous horns in nipples. (25054753)
2014
22
Altered immune responses in patients with chronic mucocutaneous candidiasis. (24582143)
2014
23
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
24
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
25
Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. (23791509)
2013
26
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. (24240291)
2013
27
IL-17 T Cells' Defective Differentiation In Vitro Despite Normal Range Ex Vivo in Chronic Mucocutaneous Candidiasis Due to STAT1 Mutation. (24335902)
2013
28
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
29
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
30
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. (23709754)
2013
31
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. (24343863)
2013
32
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. (24120361)
2013
33
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. (22730530)
2012
34
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
35
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. (23026768)
2012
36
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. (22847544)
2012
37
Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis? (21988702)
2012
38
Fungal granuloma of the brain in a case of chronic mucocutaneous candidiasis. (22724885)
2012
39
Successful treatment of chronic mucocutaneous candidiasis caused by azole-resistant Candida albicans with posaconazole. (21197459)
2011
40
Defects in interleukin-17 immunity in the pathogenesis of chronic mucocutaneous candidiasis. (21766202)
2011
41
Invariant natural killer T (iNKT) cell deficiency in chronic mucocutaneous candidiasis--a consequence or a cause? (20923687)
2011
42
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (21727188)
2011
43
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (21714643)
2011
44
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. (21350122)
2011
45
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. (22195034)
2011
46
Chronic mucocutaneous candidiasis, from bench to bedside. (20133219)
2010
47
Chronic mucocutaneous candidiasis with endocrinopathy - case report. (22371787)
2010
48
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
49
Chronic mucocutaneous candidiasis and congenital susceptibility to Candida. (20859203)
2010
50
Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (20934207)
2010

Variations for Chronic Mucocutaneous Candidiasis

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Expression for genes affiliated with Chronic Mucocutaneous Candidiasis

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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 Suite gene sharing:

(show top 50)    (show all 64)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6IL6, STAT1, STAT3
2
Show member pathways
9.6IL6, STAT1, STAT3
39.6IFNG, IL6, STAT1
49.5IFNG, IL2RA, STAT3
5
Show member pathways
9.5IFNG, IL2RA, STAT3
69.4IFNG, IL1B, STAT1
79.4IFNG, IL6, TNF
8
Show member pathways
9.3IFNG, IL2RA, TNF
9
Show member pathways
9.3IFNG, IL2RA, TNF
109.3IFNG, IL23A, IL6
119.2IL2RA, IL6, STAT1, STAT3
129.2IL1B, IL6, TNF
139.1IFNG, STAT1, STAT3, TNF
149.1IL6, STAT1, STAT3, TNF
159.1CSF1, STAT1, STAT3
16
Show member pathways
9.1IFNG, IL10, IL2RA, TNF
179.1IL10, IL2RA, IL6, TNF
18
Show member pathways
9.0IL1B, IL2RA, STAT1, STAT3
198.9IFNG, IL10, IL17RB, IL2RA
208.9IL10, IL1B, IL6, TNF
218.8IFNG, IL1B, IL6, TNF
228.8IFNG, IL1B, IL6, TNF
238.8IFNG, IL6, STAT1, STAT3, TNF
24
Show member pathways
8.7IFNG, IL1B, IL2RA, STAT1, STAT3
258.7CSF1, IL1B, TNF
268.6IFNG, IL10, IL2RA, IL6, STAT1, STAT3
278.6IL10, IL1B, IL6, STAT3, TNF
288.6IL1B, IL6, STAT1, STAT3, TNF
298.6IFNG, IL10, IL1B, IL6, TNF
308.6IFNG, IL10, IL1B, IL6, TNF
318.6IFNG, IL10, IL1B, IL6, TNF
32
Show member pathways
8.6IFNG, IL1B, IL6, STAT1, TNF
33
Show member pathways
8.6IFNG, IL1B, IL6, STAT1, TNF
34
Show member pathways
8.4IFNG, IL1B, STAT1, STAT3, TNF, TRAF3IP2
358.4IL10, IL1B, IL23A, IL6, TNF
36
Show member pathways
8.4IFNG, IL10, IL1B, STAT1, STAT3, TNF
378.4CSF1, IFNG, IL1B, TNF
388.3CSF1, IL1B, IL6, TNF
39
Show member pathways
8.3IFNG, IL10, IL17A, IL1B, IL6, TNF
40
Show member pathways
8.1IL17A, IL17F, IL17RA, IL17RB, IL17RC, IL6
418.1CSF1, IFNG, IL1B, STAT1, TNF
42
Show member pathways
8.1IFNG, IL10, IL17A, IL1B, IL6, STAT1
43
Show member pathways
8.0IFNG, IL10, IL1B, IL6, STAT1, STAT3
448.0CSF1, IL1B, IL2RA, IL6, TNF
457.9CSF1, IFNG, IL10, IL2RA, IL6, TNF
46
Show member pathways
7.9IFNG, IL1B, IL2RA, IL6, STAT1, STAT3
477.8CLEC7A, IFNG, IL10, IL1B, IL2RA, STAT1
487.8CSF1, IFNG, IL10, IL1B, IL6, TNF
497.6CLEC7A, IFNG, IL10, IL1B, IL23A, IL6
507.2CSF1, IFNG, IL17A, IL1B, IL23A, IL6

GO Terms for genes affiliated with Chronic Mucocutaneous Candidiasis

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.5IFNG, IL17A, IL2RA, IL6, TNF
2extracellular regionGO:00055767.5IFNG, IL17A, IL17F, IL17RA, IL17RB, IL1B
3extracellular spaceGO:00056156.5CSF1, IFNG, IL10, IL17A, IL17F, IL1B

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

(show top 50)    (show all 73)
idNameGO IDScoreTop Affiliating Genes
1granulocyte chemotaxisGO:007162110.9IL17RA, IL17RC
2fibroblast activationGO:007253710.8IL17A, IL17RA
3positive regulation of MHC class II biosynthetic processGO:004534810.7IFNG, IL10
4interleukin-6-mediated signaling pathwayGO:007010210.6IL6, STAT3
5defense response to fungusGO:005083210.6IL17A, IL17RA, IL17RC
6neutrophil apoptotic processGO:000178110.6IFNG, IL6
7negative regulation of cytokine secretion involved in immune responseGO:000274010.6IL10, TNF
8epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.5IL6, TNF
9receptor biosynthetic processGO:003280010.5IL10, TNF
10positive regulation of interleukin-23 productionGO:003274710.5IFNG, IL17A, IL17RA
11negative regulation of lipid storageGO:001088810.5IL6, TNF
12positive regulation of interleukin-13 secretionGO:200066710.4IL17RA, IL17RB
13positive regulation of interleukin-5 secretionGO:200066410.4IL17RA, IL17RB
14positive regulation of cytokine production involved in inflammatory responseGO:190001710.4IL17A, IL17F, IL17RA, IL17RC
15positive regulation of interleukin-6 biosynthetic processGO:004541010.4IFNG, IL1B
16positive regulation of vitamin D biosynthetic processGO:006055710.4IFNG, TNF
17positive regulation of JAK-STAT cascadeGO:004642710.4IL10, IL22, IL6
18acute-phase responseGO:000695310.3IL22, IL6, STAT3
19negative regulation of interleukin-10 productionGO:003269310.3IL23A, IL23R
20positive regulation of activation of JAK2 kinase activityGO:001053510.3IL23A, IL23R
21positive regulation of memory T cell differentiationGO:004338210.3IL23A, IL23R
22positive regulation of natural killer cell proliferationGO:003281910.3IL23A, IL23R
23positive regulation of NK T cell activationGO:005113510.3IL23A, IL23R
24positive regulation of T cell mediated cytotoxicityGO:000191610.3IL23A, IL23R
25positive regulation of T-helper 1 type immune responseGO:000282710.3IL23A, IL23R
26positive regulation of T-helper 17 cell lineage commitmentGO:200033010.3IL23A, IL23R
27positive regulation of T-helper 17 type immune responseGO:200031810.3IL23A, IL23R
28chronic inflammatory response to antigenic stimulusGO:000243910.3IL1B, TNF
29positive regulation of fever generationGO:003162210.3IL1B, TNF
30positive regulation of heterotypic cell-cell adhesionGO:003411610.3IL1B, TNF
31response to cytokineGO:003409710.2IL6, STAT1, STAT3
32negative regulation of growth of symbiont in hostGO:004413010.2IFNG, IL10, TNF
33positive regulation of tyrosine phosphorylation of Stat4 proteinGO:004252010.2IL23A, IL23R
34regulation of tyrosine phosphorylation of Stat1 proteinGO:004251010.2IL23A, IL23R
35regulation of establishment of endothelial barrierGO:190314010.2IL1B, TNF
36cellular response to cytokine stimulusGO:007134510.2IL17RA, IL6, STAT1, STAT3
37positive regulation of smooth muscle cell proliferationGO:004866110.2IL6, STAT1, TNF
38defense response to protozoanGO:004283210.1CLEC7A, IFNG, IL10, IL6
39positive regulation of interleukin-6 secretionGO:200077810.1IL17A, IL17F, IL17RC, IL1B
40defense response to Gram-negative bacteriumGO:005082910.0IL23A, IL23R, IL6
41positive regulation of interleukin-12 productionGO:003273510.0IFNG, IL23A, IL23R
42positive regulation of calcidiol 1-monooxygenase activityGO:006055910.0IFNG, IL1B, TNF
43positive regulation of chemokine biosynthetic processGO:00450809.9IFNG, IL1B, TNF
44positive regulation of activated T cell proliferationGO:00421049.9IL23A, IL23R, IL2RA
45positive regulation of membrane protein ectodomain proteolysisGO:00510449.9IFNG, IL1B, TNF
46positive regulation of interleukin-6 productionGO:00327559.9IL1B, IL6, TNF
47cellular response to lipopolysaccharideGO:00712229.9IFNG, IL10, IL6, TNF
48positive regulation of inflammatory responseGO:00507299.9IL17RA, IL17RB, IL23A
49agingGO:00075689.9IL10, IL1B, IL6, STAT3
50immune responseGO:00069559.9AIRE, IL10, IL17A, IL22, IL2RA

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

idNameGO IDScoreTop Affiliating Genes
1CCR5 chemokine receptor bindingGO:003173010.7STAT1, STAT3
2interleukin-17 receptor activityGO:003036810.3IL17RA, IL17RB, IL17RC
3cytokine activityGO:00051257.3CSF1, IFNG, IL10, IL17A, IL17F, IL1B
4protein bindingGO:00055154.6AIRE, CLEC7A, CSF1, IFNG, IL10, IL17A

Sources for Chronic Mucocutaneous Candidiasis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet