Aliases & Classifications for Orofacial Granulomatosis

MalaCards integrated aliases for Orofacial Granulomatosis:

Name: Orofacial Granulomatosis 53
Granulomatosis, Orofacial 73

Classifications:



External Ids:

UMLS 73 C0399496

Summaries for Orofacial Granulomatosis

NIH Rare Diseases : 53 Orofacial granulomatosis (OFG) is a condition characterized by granulomatous inflammation of regions of the mouth, jaw and face (maxillofacial). Features include lip enlargement, swelling inside and around the mouth, oral ulcerations (sores), and inflammation of the gums (gingivitis). There may be only swelling inside the mouth or permanent disfiguring swelling of the lips and face. It includes several disorders, such as Melkersson-Rosenthal syndrome and granulomatous cheilitis. In some cases, orofacial granulomatosis is part of another condition such as Crohn's disease, sarcoidosis, and infectious diseases such as tuberculosis. The exact cause of OFG is still unknown.  Treatment is difficult and has to be individualized, but may include corticosteroids and other medications. 

MalaCards based summary : Orofacial Granulomatosis, also known as granulomatosis, orofacial, is related to crohn's disease and periodontitis, and has symptoms including oral manifestations, polydipsia and muscle weakness. An important gene associated with Orofacial Granulomatosis is IL10 (Interleukin 10), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include t cells and tonsil, and related phenotypes are cellular and hematopoietic system

Wikipedia : 76 Orofacial granulomatosis (OFG) is a condition characterized by persistent enlargement of the soft... more...

Related Diseases for Orofacial Granulomatosis

Diseases related to Orofacial Granulomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 219)
# Related Disease Score Top Affiliating Genes
1 crohn's disease 30.6 IL10 NOD2 TNF
2 periodontitis 29.6 IFNG IL10 IL4 TNF
3 leishmaniasis 29.6 IFNG IL10 IL4 TNF
4 tonsillitis 29.4 CD79A IFNG IL4 TNF
5 inflammatory bowel disease 26.4 BTNL2 CCL5 CCR5 F2RL1 IFNG IL10
6 pouchitis 10.8 IL10 NOD2
7 mycoplasmal pneumonia 10.8 IFNG IL4
8 b-cell growth factor 10.7 IFNG IL4
9 retinitis pigmentosa 22 10.7 IL10 IL4
10 neuroschistosomiasis 10.7 CD79A IFNG
11 penicillin allergy 10.6 IFNG IL4
12 exercise-induced anaphylaxis 10.6 CD79A FLG
13 hyperlucent lung 10.6 IFNG IL10 IL4
14 dermatitis, atopic, 3 10.6 CD79A FLG
15 baylisascariasis 10.6 IFNG IL10 IL4
16 peanut allergy 10.6 FLG IFNG IL10
17 punctate inner choroidopathy 10.6 IL10 TNF
18 buruli ulcer 10.6 IFNG IL10 IL4
19 inflammatory bowel disease 4 10.6 IL4 NOD2
20 ocular toxoplasmosis 10.6 CD79A NOD2
21 african tick-bite fever 10.6 CCL5 IFNG
22 microscopic polyangiitis 10.5 IL10 TNF
23 multifocal choroiditis 10.5 IL10 TNF
24 transient hypogammaglobulinemia 10.5 IL10 TNF
25 variola major 10.5 CCL3 IFNG
26 staphylococcal toxic shock syndrome 10.5 IFNG TNF
27 autoimmune myocarditis 10.5 IFNG TNF
28 granulomatous dermatitis 10.5 NOD2 TNF
29 sporotrichosis 10.5 CD79A IFNG IL10
30 chronic graft versus host disease 10.5 CD79A IFNG IL10
31 ileocolitis 10.5 NOD2 TNF
32 vulvovaginitis 10.5 CCL5 IL10
33 necatoriasis 10.5 CCL3 IL10
34 trichosporonosis 10.5 IFNG TNF
35 chronic beryllium disease 10.5 IFNG TNF
36 congenital hypogammaglobulinemia 10.4 CD79A IL4
37 immunoglobulin a deficiency 1 10.4 CD79A IL10 IL4
38 atopic keratoconjunctivitis 10.4 IFNG IL4
39 choroiditis 10.4 IL10 TNF
40 polyradiculoneuropathy 10.4 CCL5 IFNG IL10
41 candidiasis 10.4 CD79A IFNG IL10
42 milk allergy 10.4 CD79A IL10 IL4
43 vulvovaginal candidiasis 10.4 CD79A IFNG IL4
44 parasitic ichthyosporea infectious disease 10.4 CD79A IL4
45 crohn's colitis 10.4 IFNG NOD2 TNF
46 hemorrhagic fever 10.4 IFNG IL10 TNF
47 hematopoietic stem cell transplantation 10.3 IFNG IL10 TNF
48 genital herpes 10.3 CCL5 IL10 IL4
49 aseptic meningitis 10.3 IFNG IL10 TNF
50 vernal conjunctivitis 10.3 CD79A IFNG IL4

Graphical network of the top 20 diseases related to Orofacial Granulomatosis:



Diseases related to Orofacial Granulomatosis

Symptoms & Phenotypes for Orofacial Granulomatosis

UMLS symptoms related to Orofacial Granulomatosis:


oral manifestations, polydipsia, muscle weakness

MGI Mouse Phenotypes related to Orofacial Granulomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 F2RL1 CD79A IFNG CXCR3 CCR3 F2R
2 hematopoietic system MP:0005397 10.18 CD79A IFNG CXCR3 IL10 F2R CCL5
3 homeostasis/metabolism MP:0005376 10.11 F2RL1 CD79A IFNG CXCR3 CCR3 F2R
4 immune system MP:0005387 10.1 CD79A IFNG CXCR3 IL10 F2R CCL5
5 digestive/alimentary MP:0005381 9.98 CCR5 IFNG F2R NOD2 TNF IL10
6 liver/biliary system MP:0005370 9.86 CD79A IFNG F2R CCR5 F2RL1 TNF
7 neoplasm MP:0002006 9.76 CD79A IFNG CXCR3 F2R CCR5 F2RL1
8 no phenotypic analysis MP:0003012 9.56 F2RL1 CD79A IFNG F2R CCR5 TNF
9 renal/urinary system MP:0005367 9.1 F2RL1 CD79A IFNG CXCR3 F2R IL4

Drugs & Therapeutics for Orofacial Granulomatosis

Search Clinical Trials , NIH Clinical Center for Orofacial Granulomatosis

Genetic Tests for Orofacial Granulomatosis

Anatomical Context for Orofacial Granulomatosis

MalaCards organs/tissues related to Orofacial Granulomatosis:

41
T Cells, Tonsil

Publications for Orofacial Granulomatosis

Articles related to Orofacial Granulomatosis:

(show all 45)
# Title Authors Year
1
A systematic review of the literature of the three related disease entities cheilitis granulomatosa, orofacial granulomatosis and Melkersson - Rosenthal syndrome. ( 29766816 )
2018
2
Orofacial granulomatosis: an unsuccessful response to weekly azithromycin pulse therapy. ( 29477603 )
2018
3
Orofacial granulomatosis and diet therapy: a review of the literature and two clinical cases. ( 29641703 )
2018
4
Orofacial granulomatosis: A disease or a concealed warning.?? ( 29323072 )
2017
5
Detailed Follow-up Study of Pediatric Orofacial Granulomatosis Patients. ( 28425922 )
2017
6
Effectiveness of surgical treatment of severe macrocheilia in a patient with orofacial granulomatosis. ( 28748609 )
2017
7
Orofacial granulomatosis: A case report of three cases may be caused by apical periodontitis. ( 28953630 )
2017
8
Treatment of orofacial granulomatosis: a case report. ( 29065902 )
2017
9
Clinicopathological diagnosis of orofacial granulomatosis. ( 28217469 )
2017
10
Orofacial granulomatosis in a 12-year-old girl successfully treated with intravenous pulse corticosteroid therapy and chloroquine. ( 28940800 )
2017
11
Orofacial granulomatosis. ( 27343966 )
2016
12
Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis. ( 27306066 )
2016
13
Does Crohn's Disease with Concomitant Orofacial Granulomatosis Represent a Distinctive Disease Subtype? ( 26829409 )
2016
14
Azathioprine is effective for oral involvement in Crohn's disease but not for orofacial granulomatosis alone. ( 26593695 )
2016
15
Uncommon inflammatory swelling of the lips: orofacial granulomatosis. ( 26759437 )
2016
16
Crohn's Disease with Orofacial Granulomatosis Is a Distinct Disease Subtype, or Is It? ( 27271492 )
2016
17
HLA-B*44 May Be a Marker for Orofacial Granulomatosis. ( 27280749 )
2016
18
Update on Orofacial Granulomatosis. ( 29029658 )
2016
19
Orofacial granulomatosis as early manifestation of Crohn's disease: report of a case in a paediatric patient. ( 28045322 )
2016
20
The role of exclusive enteral nutrition in the management of orofacial granulomatosis in children. ( 27457793 )
2016
21
Histopathological Features of Orofacial Granulomatosis. ( 26894770 )
2016
22
Orofacial granulomatosis in children: think about Crohn's disease. ( 25618553 )
2015
23
Orofacial granulomatosis: clinical signs of different pathologies. ( 25592641 )
2015
24
OROFACIAL GRANULOMATOSIS: CASE REPORT. ( 26666112 )
2015
25
Orofacial granulomatosis as a presenting feature of Crohn's disease. ( 25576503 )
2015
26
Orofacial granulomatosis: do not forget leishmaniasis. ( 26336193 )
2015
27
Orofacial Granulomatosis. ( 26470520 )
2015
28
Orofacial granulomatosis affecting lip and gingiva in a 15-year-old patient: A rare case report. ( 25821385 )
2015
29
Orofacial granulomatosis responding to weekly azithromycin pulse therapy. ( 25494221 )
2015
30
Orofacial Granulomatosis. ( 26143423 )
2015
31
A rare case of primary orofacial granulomatosis of gingiva during pregnancy. ( 26980981 )
2015
32
Idiopathic orofacial granulomatosis - a diagnostic and treatment challenge. ( 25584331 )
2014
33
Clinical evidence for allergy in orofacial granulomatosis and inflammatory bowel disease. ( 23947721 )
2013
34
Service evaluation of patients with orofacial granulomatosis and patients with oral Crohn's disease attending a paediatric oral medicine clinic. ( 22883358 )
2012
35
Compression therapy: an adjuvant treatment for orofacial granulomatosis in Melkersson-Rosenthal syndrome? ( 21873143 )
2011
36
Distinguishing orofacial granulomatosis from crohn's disease: two separate disease entities? ( 21910172 )
2011
37
Orofacial granulomatosis and chronic tonsillitis. ( 19221250 )
2009
38
Synchronous orofacial granulomatosis and mucoepidermoid carcinoma: paraneoplastic syndrome or coincidence? ( 18554941 )
2008
39
Expression of protease-activated receptor-1 and -2 in orofacial granulomatosis. ( 17577330 )
2007
40
Oral biopsies from patients with orofacial granulomatosis with histology resembling Crohn's disease have a prominent Th1 environment. ( 17206709 )
2007
41
Orofacial granulomatosis of the lower lip and cheek: report of a case. ( 17703966 )
2007
42
Serum and salivary IgA antibody responses to Saccharomyces cerevisiae, Candida albicans and Streptococcus mutans in orofacial granulomatosis and Crohn's disease. ( 15008983 )
2004
43
Non-specific influx of T-cell receptor alpha/beta and gamma/delta lymphocytes in mucosal biopsies from a patient with orofacial granulomatosis. ( 11048969 )
2000
44
Granulomatous cheilitis, Melkersson-Rosenthal syndrome, and orofacial granulomatosis. ( 11115174 )
2000
45
Melkersson-Rosenthal syndrome and orofacial granulomatosis. ( 8725591 )
1996

Variations for Orofacial Granulomatosis

Expression for Orofacial Granulomatosis

Search GEO for disease gene expression data for Orofacial Granulomatosis.

Pathways for Orofacial Granulomatosis

Pathways related to Orofacial Granulomatosis according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 BTNL2 CCL3 CCL5 CCR5 CD79A IFNG
2
Show member pathways
13.59 CCL3 CCL5 CCR3 CCR5 CXCR3 IFNG
3
Show member pathways
13.41 CCL3 CCL5 F2R IFNG IL10 IL4
4
Show member pathways
13.3 CCL3 CCL5 CCR3 CCR5 CXCR3 IL10
5
Show member pathways
13.22 CCL3 CCL5 CCR5 IFNG IL10 IL4
6
Show member pathways
13.14 CCL3 CCL5 CCR3 CCR5 CXCR3 IL10
7
Show member pathways
12.93 CCL3 CCL5 IFNG IL10 NOD2 TNF
8
Show member pathways
12.8 CCL3 CCL5 CCR3 CCR5 CXCR3
9
Show member pathways
12.56 IFNG IL10 IL4 TNF
10 12.42 CCL5 CD79A IFNG IL10 IL4 TNF
11
Show member pathways
12.36 IFNG IL10 IL4 NOD2 TNF
12
Show member pathways
12.33 CCR5 IFNG IL10 IL4 TNF
13
Show member pathways
12.26 CCL5 IFNG IL4 TNF
14 12.17 IFNG IL10 NOD2 TNF
15
Show member pathways
12.13 CCR5 IFNG IL10 IL4 TNF
16
Show member pathways
12.02 CCL3 CCL5 IFNG IL10 IL4
17 11.93 IFNG IL4 TNF
18
Show member pathways
11.93 CCL3 CCR5 IFNG IL4
19 11.9 IL10 IL4 TNF
20 11.88 CCL5 NOD2 TNF
21
Show member pathways
11.87 CCL3 CCL5 CCR3 CCR5 CXCR3
22 11.85 CCR5 CXCR3 F2R
23 11.81 IFNG IL10 TNF
24 11.75 CCL3 CCL5 IFNG TNF
25
Show member pathways
11.7 IFNG IL4 TNF
26 11.7 CCR3 CD79A IFNG IL10 IL4 TNF
27 11.68 IFNG IL10 TNF
28 11.49 IFNG IL10 TNF
29 11.45 IFNG IL10 IL4
30 11.45 CCL3 CCL5 CCR3 IL4 TNF
31 11.34 CCL3 CXCR3 IFNG IL10 IL4 TNF
32 11.27 IFNG IL4 TNF
33 11.21 F2RL1 IFNG IL10 TNF
34 11.16 IFNG IL10 IL4
35 11.13 CCR3 F2R IFNG
36 11.1 IFNG IL10 IL4 TNF
37 10.88 CCL3 TNF
38 10.79 CCL3 CCL5 CCR5 IL10 IL4 TNF

GO Terms for Orofacial Granulomatosis

Cellular components related to Orofacial Granulomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.55 CCR5 CXCR3 F2R NOD2 TNF
2 integral component of plasma membrane GO:0005887 9.5 CCR3 CCR5 CD79A CXCR3 F2R F2RL1
3 external side of plasma membrane GO:0009897 9.02 BTNL2 CCR5 CD79A CXCR3 TNF

Biological processes related to Orofacial Granulomatosis according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.99 CCR5 CD79A CXCR3 IFNG
2 MAPK cascade GO:0000165 9.98 CCL3 CCL5 CCR5 TNF
3 regulation of signaling receptor activity GO:0010469 9.95 CCL3 CCL5 IFNG IL10 IL4 TNF
4 positive regulation of cell migration GO:0030335 9.93 CCL3 CCL5 F2R F2RL1
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.89 F2R F2RL1 NOD2 TNF
6 response to virus GO:0009615 9.88 CCL5 IFNG TNF
7 cytokine-mediated signaling pathway GO:0019221 9.88 CCL3 CCL5 CCR5 IL10 IL4 TNF
8 immune response GO:0006955 9.87 CCL3 CCL5 CCR5 IFNG IL10 IL4
9 B cell differentiation GO:0030183 9.84 CD79A IL10 IL4
10 positive regulation of JNK cascade GO:0046330 9.83 F2RL1 NOD2 TNF
11 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.83 CCL5 F2R F2RL1
12 regulation of insulin secretion GO:0050796 9.83 CCL5 IFNG TNF
13 chemotaxis GO:0006935 9.83 CCL3 CCL5 CCR3 CCR5 CXCR3
14 positive regulation of T cell proliferation GO:0042102 9.81 BTNL2 CCL5 IL4
15 calcium-mediated signaling GO:0019722 9.79 CCL3 CCR5 CXCR3
16 protein kinase B signaling GO:0043491 9.78 CCL3 CCL5 TNF
17 positive regulation of cytosolic calcium ion concentration GO:0007204 9.77 CCR3 CCR5 CXCR3 F2R F2RL1
18 cellular response to organic cyclic compound GO:0071407 9.76 CCL3 CCL5 NOD2 TNF
19 signaling GO:0023052 9.73 CCL3 CCR5 NOD2
20 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.72 F2RL1 NOD2 TNF
21 dendritic cell chemotaxis GO:0002407 9.71 CCL5 CCR5
22 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.71 IFNG TNF
23 negative regulation of growth of symbiont in host GO:0044130 9.71 IL10 TNF
24 lipopolysaccharide-mediated signaling pathway GO:0031663 9.71 CCL3 CCL5 TNF
25 positive regulation of interleukin-8 secretion GO:2000484 9.7 F2R F2RL1
26 regulation of blood coagulation GO:0030193 9.7 F2R F2RL1
27 macrophage chemotaxis GO:0048246 9.7 CCL3 CCL5
28 regulation of sensory perception of pain GO:0051930 9.7 CCL3 F2R IL10
29 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 IL10 TNF
30 T cell chemotaxis GO:0010818 9.69 CCL3 CXCR3
31 negative regulation by host of viral transcription GO:0043922 9.69 CCL3 CCL5
32 neutrophil activation GO:0042119 9.68 CCL5 F2RL1
33 response to cholesterol GO:0070723 9.68 CCL3 CCR5
34 thrombin-activated receptor signaling pathway GO:0070493 9.67 F2R F2RL1
35 cell-cell junction maintenance GO:0045217 9.67 F2R F2RL1
36 endothelial cell apoptotic process GO:0072577 9.67 IL10 TNF
37 positive regulation of calcium ion transport GO:0051928 9.67 CCL3 CCL5 F2R
38 positive regulation of MHC class II biosynthetic process GO:0045348 9.65 IL10 IL4
39 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.64 CCL3 CCR5
40 negative regulation of cytokine secretion involved in immune response GO:0002740 9.63 IL10 TNF
41 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.63 CCL3 CCL5 F2R F2RL1 NOD2 TNF
42 positive regulation of natural killer cell chemotaxis GO:2000503 9.62 CCL3 CCL5
43 type 2 immune response GO:0042092 9.62 IL10 IL4
44 regulation of isotype switching GO:0045191 9.6 IL10 IL4
45 receptor biosynthetic process GO:0032800 9.58 IL10 TNF
46 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.57 IFNG TNF
47 positive regulation of vitamin D biosynthetic process GO:0060557 9.51 IFNG TNF
48 negative regulation of macrophage apoptotic process GO:2000110 9.43 CCL5 CCR5 NOD2
49 chemokine-mediated signaling pathway GO:0070098 9.35 CCL3 CCL5 CCR3 CCR5 CXCR3
50 inflammatory response GO:0006954 9.32 CCL3 CCL5 CCR3 CCR5 CXCR3 F2R

Molecular functions related to Orofacial Granulomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity GO:0004871 9.55 CCR3 CCR5 CXCR3 F2R F2RL1
2 C-C chemokine receptor activity GO:0016493 9.48 CCR3 CCR5
3 G-protein beta-subunit binding GO:0031681 9.46 F2R F2RL1
4 C-C chemokine binding GO:0019957 9.43 CCR3 CCR5
5 CCR5 chemokine receptor binding GO:0031730 9.4 CCL3 CCL5
6 phospholipase activator activity GO:0016004 9.37 CCL3 CCL5
7 CCR1 chemokine receptor binding GO:0031726 9.32 CCL3 CCL5
8 thrombin-activated receptor activity GO:0015057 9.26 F2R F2RL1
9 chemokine receptor activity GO:0004950 9.13 CCR3 CCR5 CXCR3
10 cytokine activity GO:0005125 9.1 CCL3 CCL5 IFNG IL10 IL4 TNF

Sources for Orofacial Granulomatosis

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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