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 20
Granulomatosis, Orofacial 70

Classifications:



External Ids:

UMLS 70 C0399496

Summaries for Orofacial Granulomatosis

GARD : 20 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 crohn's colitis and ige responsiveness, atopic, 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 tongue, skin and lung, and related phenotypes are cellular and hematopoietic system

Wikipedia : 73 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 447)
# Related Disease Score Top Affiliating Genes
1 crohn's colitis 30.0 TNF NOD2 IFNG
2 ige responsiveness, atopic 30.0 IL4 IL10 IFNG
3 crohn's disease 29.7 TNF NOD2 IL4 IL10 IFNG
4 folliculitis 29.7 IL4 IFNG CCL5
5 gingivitis 29.6 TNF IL4 IL10 IFNG CCL5
6 stomatitis 29.5 TNF IL4 IL10 IFNG
7 urticaria 29.4 TNF IL4 IL10
8 sarcoidosis 1 29.4 TNF NOD2 IFNG CXCR3 CCR5 CCL5
9 erythema multiforme 29.3 TNF IL4 IFNG CCL5
10 periodontitis 29.1 TNF IL4 IL10 IFNG
11 leishmaniasis 29.1 TNF IL4 IL10 IFNG
12 allergic disease 29.0 TNF IL4 IL10 IFNG CXCR3 CCR3
13 tonsillitis 28.9 TNF IL4 IL10 IFNG CD79A
14 food allergy 28.8 TNF IL4 IL10 IFNG FLG
15 proteasome-associated autoinflammatory syndrome 1 28.7 TNF IL4 IL10 IFNG CCL5 CCL3
16 contact dermatitis 28.6 TNF IL4 IL10 IFNG FLG CXCR3
17 allergic contact dermatitis 28.6 TNF IL4 IL10 IFNG FLG CXCR3
18 ulcerative colitis 28.1 TNF NOD2 IL4 IL10 IFNG CCR3
19 celiac disease 1 28.0 TNF NOD2 IL4 IL10 IFNG CXCR3
20 inflammatory bowel disease 27.3 TNF NOD2 IL4 IL10 IFNG F2RL1
21 melkersson-rosenthal syndrome 10.6
22 cheilitis 10.6
23 allergic encephalomyelitis 10.4 CCL5 CCL3
24 respiratory syncytial virus infectious disease 10.4 CCL5 CCL3
25 folliculotropic mycosis fungoides 10.4 CXCR3 CCR3
26 submandibular gland cancer 10.3 CCR5 CCL3
27 fissured tongue 10.3
28 facial paralysis 10.3
29 whiplash 10.3 CCR5 CCL5 CCL3
30 type 1 diabetes mellitus 22 10.3 CCR5 CCL5 CCL3
31 exercise-induced anaphylaxis 10.3 FLG CD79A
32 gingival overgrowth 10.3
33 secondary syphilis 10.3 CD79A CCR5
34 scorpion envenomation 10.2 TNF CCL5
35 near-fatal asthma 10.2 TNF CCL5
36 chronic eosinophilic pneumonia 10.2 CXCR3 CCL5 CCL3
37 beryllium disease 10.2 TNF BTNL2
38 mesangial proliferative glomerulonephritis 10.2 CD79A CCR5 CCL3
39 oral lichen planus 10.2 CXCR3 CCR5 CCL5
40 ulcer of lower limbs 10.2 TNF CCL5
41 t-cell non-hodgkin lymphoma 10.2 CXCR3 CCR5
42 aids dementia complex 10.2 TNF CCR3
43 nut allergy 10.1 IL4 FLG
44 stachybotrys chartarum 10.1 TNF CCL5 CCL3
45 staphylococcal toxic shock syndrome 10.1 TNF IFNG
46 autoimmune myocarditis 10.1 TNF IFNG
47 radiculopathy 10.1 IL10 CCL5 CCL3
48 polyarticular juvenile idiopathic arthritis 10.1 TNF IFNG
49 viral meningitis 10.1 IFNG CXCR3 CCL5
50 punctate inner choroidopathy 10.1 TNF IL10

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 CCR3 CCR5 CD79A CXCR3 F2R F2RL1
2 hematopoietic system MP:0005397 10.18 CCL5 CCR3 CCR5 CD79A CXCR3 F2R
3 homeostasis/metabolism MP:0005376 10.11 CCR3 CCR5 CD79A CXCR3 F2R F2RL1
4 immune system MP:0005387 10.1 CCL5 CCR3 CCR5 CD79A CXCR3 F2R
5 digestive/alimentary MP:0005381 9.98 CCR5 F2R IFNG IL10 IL4 NOD2
6 liver/biliary system MP:0005370 9.86 CCR5 CD79A F2R F2RL1 IFNG IL10
7 neoplasm MP:0002006 9.76 CCR5 CD79A CXCR3 F2R F2RL1 IFNG
8 no phenotypic analysis MP:0003012 9.5 CD79A F2R F2RL1 IFNG IL10 IL4
9 respiratory system MP:0005388 9.17 CCR3 CCR5 CXCR3 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
Tongue, Skin, Lung, Lymph Node, Heart, B Cells, Eye

Publications for Orofacial Granulomatosis

Articles related to Orofacial Granulomatosis:

(show top 50) (show all 216)
# Title Authors PMID Year
1
Salivary changes in oxidative stress related to inflammation in oral and gastrointestinal diseases. 61
32643850 2021
2
Orofacial granulomatosis: presentation and management. 61
33792397 2021
3
A healing case of orofacial granulomatosis with no medication. 61
33751557 2021
4
Orofacial Granulomatosis: Clinical and Therapeutic Features in an Italian Cohort And Review of the Literature. 61
33641182 2021
5
Clinical Profile of Melkersson-Rosenthal Syndrome/Orofacial Granulomatosis: A Review of 51 Patients. 61
33573395 2021
6
Orofacial Granulomatosis and Crohn Disease: Coincidence or Pattern? A Systematic Review. 61
33582676 2021
7
Primary orofacial granulomatous involvement of lip and gingiva only: A diagnostic challenge. 61
33424177 2020
8
Apremilast in orofacial granulomatosis-A report of five cases. 61
32981188 2020
9
Pediatric patients with orofacial granulomatosis likely to subsequently develop intestinal Crohn's disease: Brief Report. 61
32985729 2020
10
Orofacial granulomatosis: a questionnaire study among Norwegian dental clinicians. 61
32020549 2020
11
Granulomatosis with Poliangeitis (Wegener's Granulomatosis): Orofacial Manifestations. Systematic Review and Case Report. 61
33215484 2020
12
Using Ustekinumab to Treat Crohn's Disease-Related Orofacial Granulomatosis: Two Birds, One Stone. 61
32448910 2020
13
Orofacial granulomatosis presenting with the unusual sign of lymphangiectasia successfully treated with isotretinoin. 61
31769006 2020
14
A Case of Cheilitis Granulomatosa/Orofacial Granulomatosis. 61
32606993 2020
15
Orofacial Granulomatosis Presenting With Acquired Lymphangiectasia. 61
31509175 2019
16
Contact granulomatous hypersensitivity to indium in a patient with orofacial granulomatosis. 61
30957231 2019
17
Non-infectious Granulomatous Lesions of the Orofacial Region. 61
30627963 2019
18
Low-level laser as a complementary therapy in orofacial granulomatosis management: a case report. 61
30987889 2019
19
Streptococcus Salivarius: A Potential Salivary Biomarker for Orofacial Granulomatosis and Crohn's Disease? 61
30796823 2019
20
The mouth in inflammatory bowel disease and aspects of orofacial granulomatosis. 61
31090144 2019
21
Erythematous and Vascular Oral Mucosal Lesions: A Clinicopathologic Review of Red Entities. 61
30693460 2019
22
A 30-year follow-up study of patients with Melkersson-Rosenthal syndrome shows an association to inflammatory bowel disease. 61
30983435 2019
23
Orofacial Granulomatosis in a Child. 61
31885999 2019
24
STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis-like disease. 61
30126807 2018
25
Orofacial granulomatosis and erythema multiforme in an adolescent with Crohn's disease. 61
30024055 2018
26
Folliculitis decalvans and orofacial granulomatosis. 61
30008653 2018
27
Diagnosis and Treatment of Orofacial Granulomatosis. 61
30345959 2018
28
Orofacial granulomatosis: an unsuccessful response to weekly azithromycin pulse therapy. 61
29477603 2018
29
Orofacial granulomatosis and diet therapy. 61
33272495 2018
30
Orofacial granulomatosis and diet therapy: a review of the literature and two clinical cases. 61
29641703 2018
31
A Systematic Review of the Literature of the Three Related Disease Entities Cheilitis Granulomatosa, Orofacial Granulomatosis and Melkersson - Rosenthal Syndrome. 61
29766816 2018
32
Effectiveness of surgical treatment of severe macrocheilia in a patient with orofacial granulomatosis. 61
28748609 2017
33
Orofacial granulomatosis in a 12-year-old girl successfully treated with intravenous pulse corticosteroid therapy and chloroquine. 61
28940800 2017
34
Detailed Follow-up Study of Pediatric Orofacial Granulomatosis Patients. 61
28425922 2017
35
Treatment of orofacial granulomatosis: a case report. 61
29065902 2017
36
Orofacial granulomatosis: A disease or a concealed warning.?? 61
29323072 2017
37
Orofacial granulomatosis: A case report of three cases may be caused by apical periodontitis. 61
28953630 2017
38
A Diagnostic Approach to Recurrent Orofacial Swelling: A Retrospective Study of 104 Patients. 61
28601424 2017
39
Lip leishmaniasis: a case series with molecular identification and literature review. 61
28122496 2017
40
Clinicopathological diagnosis of orofacial granulomatosis. 61
28217469 2017
41
Orofacial granulomatosis as early manifestation of Crohn's disease: report of a case in a paediatric patient. 61
28045322 2016
42
The role of exclusive enteral nutrition in the management of orofacial granulomatosis in children. 61
27457793 2016
43
HLA-B*44 May Be a Marker for Orofacial Granulomatosis. 61
27280749 2016
44
Crohn's Disease with Orofacial Granulomatosis Is a Distinct Disease Subtype, or Is It? 61
27271492 2016
45
Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis. 61
27306066 2016
46
Orofacial granulomatosis. 61
27343966 2016
47
Does Crohn's Disease with Concomitant Orofacial Granulomatosis Represent a Distinctive Disease Subtype? 61
26829409 2016
48
Azathioprine is effective for oral involvement in Crohn's disease but not for orofacial granulomatosis alone. 61
26593695 2016
49
[Health lips beautiful smile: Conditions to know]. 61
27480008 2016
50
Histopathological Features of Orofacial Granulomatosis. 61
26894770 2016

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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 TNF NOD2 IL4 IL10 IFNG CD79A
2
Show member pathways
13.74 TNF IL4 IL10 CXCR3 CCR5 CCR3
3
Show member pathways
13.57 TNF IL4 IL10 IFNG CXCR3 CCR5
4
Show member pathways
13.46 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
12.86 TNF CCR5 CCR3 CCL5 CCL3
9
Show member pathways
12.82 CXCR3 CCR5 CCR3 CCL5 CCL3
10
Show member pathways
12.56 TNF IL4 IL10 IFNG CD79A
11
Show member pathways
12.54 TNF IL4 IL10 IFNG CCR5
12
Show member pathways
12.53 TNF NOD2 IL4 IL10 IFNG
13 12.45 TNF IL4 IL10 IFNG CD79A CCL5
14
Show member pathways
12.26 TNF IL4 IFNG CCL5
15
Show member pathways
12.19 TNF IL4 IL10 IFNG
16 12.17 TNF NOD2 IL10 IFNG
17
Show member pathways
12.15 TNF IL4 IL10 IFNG CCR5
18
Show member pathways
12.03 TNF IL10 CXCR3 CCR5 CCR3 CCL5
19 11.95 TNF IL4 IFNG
20 11.92 TNF IL4 IL10
21
Show member pathways
11.92 IL4 IFNG CCR5 CCL3
22 11.9 TNF NOD2 CCL5
23 11.86 F2R CXCR3 CCR5
24 11.85 TNF IL10 IFNG
25 11.8 TNF IL4 IL10 IFNG CD79A CCR3
26 11.79 TNF IFNG CCL5 CCL3
27
Show member pathways
11.71 TNF IL10 IFNG
28
Show member pathways
11.71 TNF IL4 IFNG
29 11.69 TNF IL10 IFNG
30 11.63 TNF IL4 IL10
31 11.52 TNF IL4 CCR3 CCL5 CCL3
32 11.5 TNF IL10 IFNG
33 11.45 IL4 IL10 IFNG
34 11.34 TNF IL4 IL10 IFNG CXCR3 CCL3
35 11.3 TNF IL10 IFNG F2RL1
36 11.27 TNF IL4 IFNG
37
Show member pathways
11.26 TNF IL10 IFNG CCL3
38 11.15 IL4 IL10 IFNG
39 11.13 TNF IL4 IL10 IFNG
40 11.12 IFNG F2R CCR3
41 10.95 TNF IL4 IL10 CCL5 CCL3
42 10.89 TNF CCL3
43 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 9.35 TNF NOD2 F2R CXCR3 CCR5
2 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 74)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.24 IL4 IL10 F2RL1 F2R CXCR3 CCR5
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 TNF NOD2 IL4 IL10 F2RL1 CXCR3
3 G protein-coupled receptor signaling pathway GO:0007186 10.19 F2RL1 F2R CXCR3 CCR5 CCR3 CCL5
4 positive regulation of cell proliferation GO:0008284 10.1 NOD2 IL4 IFNG F2R CXCR3
5 positive regulation of GTPase activity GO:0043547 10.04 F2RL1 F2R CCL5 CCL3
6 cell surface receptor signaling pathway GO:0007166 10.03 IFNG CXCR3 CD79A CCR5
7 MAPK cascade GO:0000165 10.01 TNF CCR5 CCL5 CCL3
8 positive regulation of cell migration GO:0030335 9.97 IL4 F2RL1 F2R CCL5 CCL3
9 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.96 TNF NOD2 F2RL1 F2R
10 cellular response to lipopolysaccharide GO:0071222 9.95 TNF NOD2 IL10 CCR5
11 response to virus GO:0009615 9.91 TNF IFNG CCL5
12 cytokine-mediated signaling pathway GO:0019221 9.91 TNF IL4 IL10 CCR5 CCL5 CCL3
13 positive regulation of inflammatory response GO:0050729 9.9 TNF IFNG CCL3
14 positive regulation of tumor necrosis factor production GO:0032760 9.89 NOD2 IFNG CCL3
15 positive regulation of JNK cascade GO:0046330 9.89 TNF NOD2 F2RL1
16 B cell differentiation GO:0030183 9.88 IL4 IL10 CD79A
17 negative regulation of tumor necrosis factor production GO:0032720 9.88 NOD2 IL4 IL10
18 positive regulation of cytosolic calcium ion concentration GO:0007204 9.88 F2RL1 F2R CXCR3 CCR5 CCR3
19 regulation of insulin secretion GO:0050796 9.87 TNF IFNG CCL5
20 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.87 TNF F2RL1 F2R CCL5
21 positive regulation of T cell proliferation GO:0042102 9.86 IL4 CCL5 BTNL2
22 calcium-mediated signaling GO:0019722 9.86 CXCR3 CCR5 CCR3 CCL3
23 positive regulation of cytokine production GO:0001819 9.85 TNF IL10 IFNG
24 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 TNF IL4 IFNG CCL5
25 chemotaxis GO:0006935 9.85 CXCR3 CCR5 CCR3 CCL5 CCL3
26 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 TNF NOD2 F2RL1 F2R CCL5 CCL3
27 cellular response to organic cyclic compound GO:0071407 9.84 TNF NOD2 CCL5 CCL3
28 positive regulation of phagocytosis GO:0050766 9.83 TNF NOD2 IFNG
29 protein kinase B signaling GO:0043491 9.81 TNF CCL5 CCL3
30 positive regulation of interleukin-8 production GO:0032757 9.81 TNF NOD2 F2RL1 F2R
31 regulation of sensory perception of pain GO:0051930 9.8 IL10 F2R CCL3
32 positive regulation of interleukin-1 beta production GO:0032731 9.8 TNF NOD2 IFNG CCL3
33 lipopolysaccharide-mediated signaling pathway GO:0031663 9.79 TNF CCL5 CCL3
34 microglial cell activation GO:0001774 9.79 TNF IL4 IFNG
35 positive regulation of calcium ion transport GO:0051928 9.77 F2R CCL5 CCL3
36 eosinophil chemotaxis GO:0048245 9.75 CCL5 CCL3
37 negative regulation of interleukin-12 production GO:0032695 9.75 NOD2 IL10
38 dendritic cell chemotaxis GO:0002407 9.75 CCR5 CCL5
39 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.74 NOD2 IFNG
40 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.74 TNF IFNG
41 astrocyte activation GO:0048143 9.74 TNF IFNG
42 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.74 TNF IL10
43 macrophage chemotaxis GO:0048246 9.74 CCL5 CCL3
44 positive regulation of signaling receptor activity GO:2000273 9.73 IL10 IFNG
45 negative regulation by host of viral transcription GO:0043922 9.73 CCL5 CCL3
46 neutrophil activation GO:0042119 9.73 F2RL1 CCL5
47 regulation of blood coagulation GO:0030193 9.73 F2RL1 F2R
48 response to cholesterol GO:0070723 9.72 CCR5 CCL3
49 T cell chemotaxis GO:0010818 9.72 CXCR3 CCL3
50 negative regulation of amyloid-beta clearance GO:1900222 9.72 TNF IFNG

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

# Name GO ID Score Top Affiliating Genes
1 CCR5 chemokine receptor binding GO:0031730 9.43 CCL5 CCL3
2 C-C chemokine binding GO:0019957 9.43 CXCR3 CCR5 CCR3
3 phospholipase activator activity GO:0016004 9.4 CCL5 CCL3
4 CCR1 chemokine receptor binding GO:0031726 9.37 CCL5 CCL3
5 C-C chemokine receptor activity GO:0016493 9.33 CXCR3 CCR5 CCR3
6 thrombin-activated receptor activity GO:0015057 9.32 F2RL1 F2R
7 chemokine receptor activity GO:0004950 9.13 CXCR3 CCR5 CCR3
8 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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