MCID: ORF044
MIFTS: 38

Orofacial Granulomatosis

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Orofacial Granulomatosis

MalaCards integrated aliases for Orofacial Granulomatosis:

Name: Orofacial Granulomatosis 52
Granulomatosis, Orofacial 71

Classifications:



External Ids:

UMLS 71 C0399496

Summaries for Orofacial Granulomatosis

NIH Rare Diseases : 52 Orofacial granulomatosis (OFG) is a condition characterized by granulomatous inflammation of regions of the mouth, jaw and face ( maxillofacial), in the absence of a recognised systemic condition known to cause granulomas. 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. OFG includes granulomatous cheilitis (when it presents as a persistent or recurrent lip swelling), and Melkersson-Rosenthal syndrome (which includes CG, facial nerve palsy and fissured tongue) that can manifest with only CG. In some cases, orofacial granulomatosis is part of another disease such as Crohn's disease , sarcoidosis , and infectious diseases such as tuberculosis . The diagnosis of OFG is confirmed only by biopsy and microscopic tissue analysis identifying the noncaseating granulomas. When OFG occurs alone, without other associated diseases it is considered idiopathic. Up to 40% of the people with orofacial granulomatosis (OFG) may have positive reactions to patch allergy tests. The exact prevalence of idiopathic OFG is not known, but it is considered a rare condition in most literature reports. Treatment is difficult and has to be individualized, but may include corticosteroids (systemic or injected inside the lesions), and other medication. Granulomatous cheilitis or OFG may improve with a cinnamon- and benzoate-free diet. Response to treatment is slow, and can take years, but most people improve. Surgery may be required for severe permanent swelling interfering with speaking or eating.

MalaCards based summary : Orofacial Granulomatosis, also known as granulomatosis, orofacial, is related to ige responsiveness, atopic and crohn's colitis, and has symptoms including muscle weakness, polydipsia and oral manifestations. An important gene associated with Orofacial Granulomatosis is BTNL2 (Butyrophilin Like 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include testes, tongue and t cells, and related phenotypes are cellular and hematopoietic system

Wikipedia : 74 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 402)
# Related Disease Score Top Affiliating Genes
1 ige responsiveness, atopic 29.8 IL4 IL10 IFNG
2 crohn's colitis 29.8 TNF NOD2 IFNG
3 crohn's disease 29.3 TNF NOD2 IL4 IL10 IFNG
4 gingivitis 29.2 TNF IL4 IL10 IFNG CCL5
5 stomatitis 29.2 TNF IL4 IL10 IFNG
6 urticaria 29.2 TNF IL4 IL10
7 folliculitis 29.1 TNF IL4 IFNG CCL5
8 erythema multiforme 29.1 TNF IL4 IFNG CXCR3
9 sarcoidosis 1 28.8 TNF NOD2 IFNG CXCR3 CCR5 CCL5
10 periodontitis 28.8 TNF IL4 IL10 IFNG
11 diarrhea 28.8 TNF NOD2 IL10 IFNG
12 allergic hypersensitivity disease 28.7 TNF IL4 IL10 IFNG CCR3 CCL5
13 tonsillitis 28.5 TNF IL4 IL10 IFNG CD79A
14 food allergy 28.4 TNF IL4 IL10 IFNG FLG
15 proteasome-associated autoinflammatory syndrome 1 28.3 TNF IL4 IL10 IFNG CCL5 CCL3
16 allergic contact dermatitis 28.3 TNF IL4 IL10 IFNG FLG CXCR3
17 contact dermatitis 28.3 TNF IL4 IL10 IFNG FLG CXCR3
18 leishmaniasis 28.2 TNF IL4 IL10 IFNG CXCR3 CCR5
19 celiac disease 1 27.6 TNF NOD2 IL4 IL10 IFNG CD79A
20 mycobacterium tuberculosis 1 27.3 TNF NOD2 IL4 IL10 IFNG CXCR3
21 inflammatory bowel disease 26.0 TNF NOD2 IL4 IL10 IFNG F2RL1
22 melkersson-rosenthal syndrome 10.5
23 cheilitis 10.5
24 allergic encephalomyelitis 10.5 CCL5 CCL3
25 respiratory syncytial virus infectious disease 10.5 CCL5 CCL3
26 folliculotropic mycosis fungoides 10.5 CXCR3 CCR3
27 west nile virus infection 10.4 CCR5 CCL5
28 whiplash 10.3 CCR5 CCL5 CCL3
29 diabetes mellitus, insulin-dependent, 22 10.3 CCR5 CCL5 CCL3
30 exercise-induced anaphylaxis 10.3 FLG CD79A
31 submandibular gland cancer 10.3 CCR5 CCL3
32 scorpion envenomation 10.3 TNF CCL5
33 chronic eosinophilic pneumonia 10.3 CXCR3 CCL5 CCL3
34 fissured tongue 10.3
35 facial paralysis 10.3
36 gingival overgrowth 10.3
37 mesangial proliferative glomerulonephritis 10.3 CD79A CCR5 CCL3
38 oral lichen planus 10.2 CXCR3 CCR5 CCL5
39 secondary syphilis 10.2 CD79A CCR5
40 anaerobic pneumonia 10.2 TNF CCL5
41 aids dementia complex 10.2 TNF CCR3
42 stachybotrys chartarum 10.1 TNF CCL5 CCL3
43 radiculopathy 10.1 IL10 CCL5 CCL3
44 staphylococcal toxic shock syndrome 10.1 TNF IFNG
45 autoimmune myocarditis 10.1 TNF IFNG
46 punctate inner choroidopathy 10.1 TNF IL10
47 viral meningitis 10.1 IFNG CXCR3 CCL5
48 cytomegalovirus infection 10.1 TNF CCL5 CCL3
49 polyarticular juvenile idiopathic arthritis 10.1 TNF IFNG
50 dengue disease 10.1 TNF CCL5 CCL3

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:


muscle weakness, polydipsia, oral manifestations

MGI Mouse Phenotypes related to Orofacial Granulomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 CCR3 CCR5 CD79A CXCR3 F2R F2RL1
2 hematopoietic system MP:0005397 10.15 CCL5 CCR3 CCR5 CD79A CXCR3 F2R
3 homeostasis/metabolism MP:0005376 10.06 CCR3 CCR5 CD79A CXCR3 F2R F2RL1
4 immune system MP:0005387 10.03 CCL5 CCR3 CCR5 CD79A CXCR3 F2R
5 digestive/alimentary MP:0005381 9.95 CCR5 F2R IFNG IL10 IL4 NOD2
6 liver/biliary system MP:0005370 9.76 CCR5 CD79A F2R F2RL1 IFNG IL10
7 neoplasm MP:0002006 9.56 CCR5 CD79A CXCR3 F2R F2RL1 IFNG
8 no phenotypic analysis MP:0003012 9.17 CD79A F2R F2RL1 IFNG IL10 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:

40
Testes, Tongue, T Cells, Lymph Node, Liver, Tonsil, B Cells

Publications for Orofacial Granulomatosis

Articles related to Orofacial Granulomatosis:

(show top 50) (show all 204)
# Title Authors PMID Year
1
Using Ustekinumab to Treat Crohn's Disease-Related Orofacial Granulomatosis: Two Birds, One Stone. 61
32448910 2020
2
Orofacial granulomatosis presenting with the unusual sign of lymphangiectasia successfully treated with isotretinoin. 61
31769006 2020
3
Orofacial granulomatosis: a questionnaire study among Norwegian dental clinicians. 61
32020549 2020
4
Contact granulomatous hypersensitivity to indium in a patient with orofacial granulomatosis. 61
30957231 2019
5
Non-infectious Granulomatous Lesions of the Orofacial Region. 61
30627963 2019
6
Orofacial Granulomatosis Presenting With Acquired Lymphangiectasia. 61
31509175 2019
7
Low-level laser as a complementary therapy in orofacial granulomatosis management: a case report. 61
30987889 2019
8
Streptococcus Salivarius: A Potential Salivary Biomarker for Orofacial Granulomatosis and Crohn's Disease? 61
30796823 2019
9
The mouth in inflammatory bowel disease and aspects of orofacial granulomatosis. 61
31090144 2019
10
A 30-year follow-up study of patients with Melkersson-Rosenthal syndrome shows an association to inflammatory bowel disease. 61
30983435 2019
11
Erythematous and Vascular Oral Mucosal Lesions: A Clinicopathologic Review of Red Entities. 61
30693460 2019
12
Orofacial Granulomatosis in a Child. 61
31885999 2019
13
STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis-like disease. 61
30126807 2018
14
Orofacial granulomatosis and erythema multiforme in an adolescent with Crohn's disease. 61
30024055 2018
15
Folliculitis decalvans and orofacial granulomatosis. 61
30008653 2018
16
Diagnosis and Treatment of Orofacial Granulomatosis. 61
30345959 2018
17
Orofacial granulomatosis: an unsuccessful response to weekly azithromycin pulse therapy. 61
29477603 2018
18
Orofacial granulomatosis and diet therapy: a review of the literature and two clinical cases. 61
29641703 2018
19
A Systematic Review of the Literature of the Three Related Disease Entities Cheilitis Granulomatosa, Orofacial Granulomatosis and Melkersson - Rosenthal Syndrome. 61
29766816 2018
20
Effectiveness of surgical treatment of severe macrocheilia in a patient with orofacial granulomatosis. 61
28748609 2017
21
Orofacial granulomatosis in a 12-year-old girl successfully treated with intravenous pulse corticosteroid therapy and chloroquine. 61
28940800 2017
22
Detailed Follow-up Study of Pediatric Orofacial Granulomatosis Patients. 61
28425922 2017
23
Treatment of orofacial granulomatosis: a case report. 61
29065902 2017
24
Orofacial granulomatosis: A disease or a concealed warning.?? 61
29323072 2017
25
Orofacial granulomatosis: A case report of three cases may be caused by apical periodontitis. 61
28953630 2017
26
A Diagnostic Approach to Recurrent Orofacial Swelling: A Retrospective Study of 104 Patients. 61
28601424 2017
27
Lip leishmaniasis: a case series with molecular identification and literature review. 61
28122496 2017
28
Clinicopathological diagnosis of orofacial granulomatosis. 61
28217469 2017
29
Orofacial granulomatosis as early manifestation of Crohn's disease: report of a case in a paediatric patient. 61
28045322 2016
30
The role of exclusive enteral nutrition in the management of orofacial granulomatosis in children. 61
27457793 2016
31
HLA-B*44 May Be a Marker for Orofacial Granulomatosis. 61
27280749 2016
32
Crohn's Disease with Orofacial Granulomatosis Is a Distinct Disease Subtype, or Is It? 61
27271492 2016
33
Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis. 61
27306066 2016
34
Orofacial granulomatosis. 61
27343966 2016
35
Does Crohn's Disease with Concomitant Orofacial Granulomatosis Represent a Distinctive Disease Subtype? 61
26829409 2016
36
Azathioprine is effective for oral involvement in Crohn's disease but not for orofacial granulomatosis alone. 61
26593695 2016
37
[Health lips beautiful smile: Conditions to know]. 61
27480008 2016
38
Histopathological Features of Orofacial Granulomatosis. 61
26894770 2016
39
Clinically granulomatous cheilitis with plasma cells. 61
27057489 2016
40
Update on Orofacial Granulomatosis. 61
29029658 2016
41
Uncommon inflammatory swelling of the lips: orofacial granulomatosis. 61
26759437 2016
42
Orofacial granulomatosis: do not forget leishmaniasis. 61
26336193 2015
43
OROFACIAL GRANULOMATOSIS: CASE REPORT. 61
26666112 2015
44
A rare case of primary orofacial granulomatosis of gingiva during pregnancy. 61
26980981 2015
45
World Workshop on Oral Medicine VI: Patient-reported outcome measures and oral mucosal disease: current status and future direction. 61
25934415 2015
46
Orofacial Granulomatosis. 61
26143423 2015
47
Orofacial Granulomatosis. 61
26470520 2015
48
[A 74-year old woman with orofacial granulomatosis]. 61
26372981 2015
49
Adverse reaction to silicone simulating orofacial granulomatosis. 61
24750369 2015
50
Off-label use of TNF-alpha inhibitors in a dermatological university department: retrospective evaluation of 118 patients. 61
25731720 2015

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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 TNF NOD2 IL4 IL10 IFNG CD79A
2
Show member pathways
13.73 TNF IL4 IL10 CXCR3 CCR5 CCR3
3
Show member pathways
13.57 TNF IL4 IL10 IFNG CXCR3 CCR5
4
Show member pathways
13.45 TNF IL4 IL10 IFNG F2R CCL5
5
Show member pathways
13.29 TNF IL4 IL10 CXCR3 CCR5 CCR3
6
Show member pathways
13.22 TNF NOD2 IL4 IL10 IFNG CCR5
7
Show member pathways
13.16 TNF IL4 IL10 CXCR3 CCR5 CCR3
8
Show member pathways
12.98 TNF IL10 IFNG CCL5 CCL3
9
Show member pathways
12.85 TNF CCR5 CCR3 CCL5 CCL3
10
Show member pathways
12.81 CXCR3 CCR5 CCR3 CCL5 CCL3
11
Show member pathways
12.56 TNF IL4 IL10 IFNG CD79A
12
Show member pathways
12.54 TNF IL4 IL10 IFNG CCR5
13
Show member pathways
12.53 TNF NOD2 IL4 IL10 IFNG
14 12.45 TNF IL4 IL10 IFNG CD79A CCL5
15
Show member pathways
12.38 IL4 IL10 IFNG CCR5
16
Show member pathways
12.26 TNF IL4 IFNG CCL5
17
Show member pathways
12.19 TNF IL4 IL10 IFNG
18 12.17 TNF NOD2 IL10 IFNG
19
Show member pathways
12.15 TNF IL4 IL10 IFNG CCR5
20
Show member pathways
12.03 TNF IL10 CXCR3 CCR5 CCR3 CCL5
21 11.95 TNF IL4 IFNG
22
Show member pathways
11.92 IL4 IFNG CCR5 CCL3
23 11.91 TNF IL4 IL10
24 11.9 TNF NOD2 CCL5
25
Show member pathways
11.87 TNF IL10 IFNG
26 11.85 F2R CXCR3 CCR5
27 11.85 TNF IL10 IFNG
28 11.8 TNF IL4 IL10 IFNG CD79A CCR3
29 11.79 TNF IFNG CCL5 CCL3
30
Show member pathways
11.7 TNF IL4 IFNG
31 11.68 TNF IL10 IFNG
32 11.52 TNF IL4 CCR3 CCL5 CCL3
33 11.5 TNF IL10 IFNG
34 11.45 IL4 IL10 IFNG
35 11.34 TNF IL4 IL10 IFNG CXCR3 CCL3
36 11.3 TNF IL10 IFNG F2RL1
37 11.27 TNF IL4 IFNG
38
Show member pathways
11.26 TNF IL10 IFNG CCL3
39 11.15 IL4 IL10 IFNG
40 11.13 TNF IL4 IL10 IFNG
41 11.12 IFNG F2R CCR3
42 10.94 TNF IL4 IL10 CCL5 CCL3
43 10.89 TNF CCL3
44 10.79 TNF IL4 IL10 CCR5 CCL5 CCL3

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 TNF NOD2 F2R CXCR3 CCR5
2 cell GO:0005623 9.5 F2RL1 F2R CXCR3 CCR5 CCR3 CCL5
3 external side of plasma membrane GO:0009897 9.1 TNF CXCR3 CD79A CCR5 CCR3 BTNL2

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

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.24 IL4 IL10 F2RL1 F2R CXCR3 CCR5
2 G protein-coupled receptor signaling pathway GO:0007186 10.19 F2RL1 F2R CXCR3 CCR5 CCR3 CCL5
3 positive regulation of GTPase activity GO:0043547 10.04 F2RL1 F2R CCL5 CCL3
4 cell surface receptor signaling pathway GO:0007166 10.03 IFNG CXCR3 CD79A CCR5
5 MAPK cascade GO:0000165 10.01 TNF CCR5 CCL5 CCL3
6 positive regulation of cell migration GO:0030335 9.98 IL4 F2RL1 F2R CCL5 CCL3
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.96 TNF NOD2 F2RL1 F2R
8 cellular response to lipopolysaccharide GO:0071222 9.96 TNF NOD2 IL10 CCR5
9 cytokine-mediated signaling pathway GO:0019221 9.93 TNF IL4 IL10 CCR5 CCL5 CCL3
10 response to virus GO:0009615 9.91 TNF IFNG CCL5
11 chemotaxis GO:0006935 9.91 CXCR3 CCR5 CCR3 CCL5 CCL3
12 positive regulation of inflammatory response GO:0050729 9.9 TNF IFNG CCL3
13 positive regulation of JNK cascade GO:0046330 9.89 TNF NOD2 F2RL1
14 B cell differentiation GO:0030183 9.88 IL4 IL10 CD79A
15 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.88 TNF F2RL1 F2R CCL5
16 positive regulation of cytosolic calcium ion concentration GO:0007204 9.88 F2RL1 F2R CXCR3 CCR5 CCR3
17 regulation of insulin secretion GO:0050796 9.87 TNF IFNG CCL5
18 calcium-mediated signaling GO:0019722 9.87 CXCR3 CCR5 CCR3 CCL3
19 positive regulation of T cell proliferation GO:0042102 9.86 IL4 CCL5 BTNL2
20 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 TNF IL4 IFNG CCL5
21 cellular response to organic cyclic compound GO:0071407 9.84 TNF NOD2 CCL5 CCL3
22 protein kinase B signaling GO:0043491 9.81 TNF CCL5 CCL3
23 lipopolysaccharide-mediated signaling pathway GO:0031663 9.81 TNF CCL5 CCL3
24 regulation of sensory perception of pain GO:0051930 9.8 IL10 F2R CCL3
25 positive regulation of cytokine secretion GO:0050715 9.8 TNF IL10 IFNG
26 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 TNF NOD2 F2RL1 F2R CCL5 CCL3
27 microglial cell activation GO:0001774 9.79 TNF IL4 IFNG
28 positive regulation of calcium ion transport GO:0051928 9.77 F2R CCL5 CCL3
29 astrocyte activation GO:0048143 9.74 TNF IFNG
30 dendritic cell chemotaxis GO:0002407 9.74 CCR5 CCL5
31 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.74 TNF IFNG
32 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.74 TNF IL10
33 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.73 NOD2 IFNG
34 macrophage chemotaxis GO:0048246 9.73 CCL5 CCL3
35 regulation of blood coagulation GO:0030193 9.73 F2RL1 F2R
36 negative regulation by host of viral transcription GO:0043922 9.73 CCL5 CCL3
37 positive regulation of interleukin-8 secretion GO:2000484 9.73 TNF F2RL1 F2R
38 positive regulation of interleukin-6 secretion GO:2000778 9.73 TNF IFNG F2RL1 F2R
39 neutrophil activation GO:0042119 9.72 F2RL1 CCL5
40 T cell chemotaxis GO:0010818 9.72 CXCR3 CCL3
41 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.72 IL4 IL10
42 negative regulation of amyloid-beta clearance GO:1900222 9.72 TNF IFNG
43 response to cholesterol GO:0070723 9.71 CCR5 CCL3
44 thrombin-activated receptor signaling pathway GO:0070493 9.71 F2RL1 F2R
45 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.71 TNF IFNG
46 signaling GO:0023052 9.7 CCR5 CCL3
47 endothelial cell apoptotic process GO:0072577 9.7 TNF IL10
48 cell-cell junction maintenance GO:0045217 9.7 F2RL1 F2R
49 positive regulation of chemokine biosynthetic process GO:0045080 9.7 TNF IL4 IFNG
50 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.69 CCR5 CCL3

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

# Name GO ID Score Top Affiliating Genes
1 chemokine binding GO:0019956 9.5 CXCR3 CCR5 CCR3
2 CCR5 chemokine receptor binding GO:0031730 9.46 CCL5 CCL3
3 phospholipase activator activity GO:0016004 9.43 CCL5 CCL3
4 C-C chemokine binding GO:0019957 9.43 CXCR3 CCR5 CCR3
5 CCR1 chemokine receptor binding GO:0031726 9.4 CCL5 CCL3
6 thrombin-activated receptor activity GO:0015057 9.37 F2RL1 F2R
7 C-C chemokine receptor activity GO:0016493 9.33 CXCR3 CCR5 CCR3
8 chemokine receptor activity GO:0004950 9.13 CXCR3 CCR5 CCR3
9 cytokine activity GO:0005125 9.1 TNF IL4 IL10 IFNG CCL5 CCL3

Sources for Orofacial Granulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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