MCID: ORF044
MIFTS: 45

Orofacial Granulomatosis

Categories: Oral diseases, Rare diseases

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), 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 disease and folliculitis, and has symptoms including muscle weakness, polydipsia and oral manifestations. An important gene associated with Orofacial Granulomatosis is CCL5 (C-C Motif Chemokine Ligand 5), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include testes, tongue 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 231)
# Related Disease Score Top Affiliating Genes
1 crohn's disease 30.7 IL10 NOD2 TNF
2 folliculitis 29.9 CCL5 IFNG IL4
3 erythema multiforme 29.6 CXCR3 IFNG TNF
4 food allergy 29.6 FLG IFNG IL10 IL4
5 tonsillitis 29.4 CD79A IFNG IL4 TNF
6 periodontitis 29.3 IFNG IL10 IL4 TNF
7 leishmaniasis 29.2 CCR5 IFNG IL10 IL4 TNF
8 inflammatory bowel disease 28.4 BTNL2 CCL5 CCR5 F2RL1 IFNG IL10
9 testicular leukemia 10.3 CCR3 CD79A
10 vulvovaginitis 10.3 CCL5 IL10
11 congenital hypogammaglobulinemia 10.2 CD79A IL4
12 african tick-bite fever 10.2 CCL5 IFNG
13 respiratory syncytial virus infectious disease 10.2 CCL3 CCL5
14 strongyloidiasis 10.2 CD79A IFNG
15 chromoblastomycosis 10.2 CXCR3 IL4
16 folliculotropic mycosis fungoides 10.2 CCR3 CXCR3
17 gaucher disease, type ii 10.2 IL10 IL4
18 retinitis pigmentosa 22 10.2 IL10 IL4
19 apple allergy 10.2 IL10 IL4
20 melkersson-rosenthal syndrome 10.2
21 beta-lactam allergy 10.2 IL10 IL4
22 cephalosporin allergy 10.2 IFNG IL10
23 palladium allergic contact dermatitis 10.2 CCL3 IL10
24 necatoriasis 10.2 CCL3 IL10
25 b-cell growth factor 10.1 IFNG IL4
26 crustacean allergy 10.1 IFNG IL4
27 atopic keratoconjunctivitis 10.1 IFNG IL4
28 variola major 10.1 CCL3 IFNG
29 pouchitis 10.1 IL10 NOD2
30 oral lichen planus 10.1 CCL5 CCR5 CXCR3
31 kimura disease 10.1 CCL5 CCR3 IL4
32 inflammatory bowel disease 4 10.1 IL4 NOD2
33 aids dementia complex 10.1 CCR3 TNF
34 exercise-induced anaphylaxis 10.1 CD79A FLG
35 whiplash 10.1 CCL3 CCL5 CCR5
36 chronic nk-cell lymphocytosis 10.1 CCL3 CCL5 CCR5
37 vernal keratoconjunctivitis 10.1 CCL5 CXCR3 IL4
38 yellow fever 10.1 CCL5 CCR5 IL4
39 milk allergy 10.1 CD79A IL10 IL4
40 graves' disease 10.1 CCL5 IFNG IL4
41 ocular toxoplasmosis 10.1 CCR5 CD79A NOD2
42 choroiditis 10.1 IL10 TNF
43 trichuriasis 10.1 IL10 TNF
44 transient hypogammaglobulinemia 10.0 IL10 TNF
45 microscopic polyangiitis 10.0 IL10 TNF
46 multifocal choroiditis 10.0 IL10 TNF
47 idiopathic achalasia 10.0 IL10 TNF
48 genital herpes 10.0 CCL5 IL10 IL4
49 sporotrichosis 10.0 CD79A IFNG IL10
50 cheilitis 10.0

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 9.56 CCR5 CD79A F2R F2RL1 IFNG IL10
9 renal/urinary system MP:0005367 9.1 CD79A CXCR3 F2R F2RL1 IFNG 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
Testes, Tongue, Tonsil, B Cells, Lung, Skin, Eye

Publications for Orofacial Granulomatosis

Articles related to Orofacial Granulomatosis:

(show top 50) (show all 147)
# 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 and erythema multiforme in an adolescent with Crohn's disease. ( 30024055 )
2018
5
Folliculitis decalvans and orofacial granulomatosis. ( 30008653 )
2018
6
STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis-like disease. ( 30126807 )
2018
7
Diagnosis and Treatment of Orofacial Granulomatosis. ( 30345959 )
2018
8
Orofacial granulomatosis: A disease or a concealed warning.?? ( 29323072 )
2017
9
Detailed Follow-up Study of Pediatric Orofacial Granulomatosis Patients. ( 28425922 )
2017
10
Effectiveness of surgical treatment of severe macrocheilia in a patient with orofacial granulomatosis. ( 28748609 )
2017
11
Orofacial granulomatosis: A case report of three cases may be caused by apical periodontitis. ( 28953630 )
2017
12
Treatment of orofacial granulomatosis: a case report. ( 29065902 )
2017
13
Clinicopathological diagnosis of orofacial granulomatosis. ( 28217469 )
2017
14
Orofacial granulomatosis in a 12-year-old girl successfully treated with intravenous pulse corticosteroid therapy and chloroquine. ( 28940800 )
2017
15
Orofacial granulomatosis. ( 27343966 )
2016
16
Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis. ( 27306066 )
2016
17
Does Crohn's Disease with Concomitant Orofacial Granulomatosis Represent a Distinctive Disease Subtype? ( 26829409 )
2016
18
Azathioprine is effective for oral involvement in Crohn's disease but not for orofacial granulomatosis alone. ( 26593695 )
2016
19
Uncommon inflammatory swelling of the lips: orofacial granulomatosis. ( 26759437 )
2016
20
Crohn's Disease with Orofacial Granulomatosis Is a Distinct Disease Subtype, or Is It? ( 27271492 )
2016
21
HLA-B*44 May Be a Marker for Orofacial Granulomatosis. ( 27280749 )
2016
22
Update on Orofacial Granulomatosis. ( 29029658 )
2016
23
Orofacial granulomatosis as early manifestation of Crohn's disease: report of a case in a paediatric patient. ( 28045322 )
2016
24
The role of exclusive enteral nutrition in the management of orofacial granulomatosis in children. ( 27457793 )
2016
25
Histopathological Features of Orofacial Granulomatosis. ( 26894770 )
2016
26
Orofacial granulomatosis in children: think about Crohn's disease. ( 25618553 )
2015
27
Orofacial granulomatosis: clinical signs of different pathologies. ( 25592641 )
2015
28
OROFACIAL GRANULOMATOSIS: CASE REPORT. ( 26666112 )
2015
29
Orofacial granulomatosis as a presenting feature of Crohn's disease. ( 25576503 )
2015
30
Orofacial granulomatosis: do not forget leishmaniasis. ( 26336193 )
2015
31
Orofacial Granulomatosis. ( 26470520 )
2015
32
Orofacial granulomatosis affecting lip and gingiva in a 15-year-old patient: A rare case report. ( 25821385 )
2015
33
Orofacial granulomatosis responding to weekly azithromycin pulse therapy. ( 25494221 )
2015
34
Orofacial Granulomatosis. ( 26143423 )
2015
35
A rare case of primary orofacial granulomatosis of gingiva during pregnancy. ( 26980981 )
2015
36
Characterisation of a Swedish cohort with orofacial granulomatosis with or without Crohn's disease. ( 24645728 )
2015
37
Adverse reaction to silicone simulating orofacial granulomatosis. ( 24750369 )
2015
38
Idiopathic orofacial granulomatosis - a diagnostic and treatment challenge. ( 25584331 )
2014
39
Long-term effectiveness of intralesional triamcinolone acetonide therapy in orofacial granulomatosis: an observational cohort study. ( 24088036 )
2014
40
Thalidomide in the treatment of refractory orofacial granulomatosis. ( 24601875 )
2014
41
Unifocal orofacial granulomatosis in retromolar mucosa: surgical treatment with Er,Cr:YSGG laser. ( 24790722 )
2014
42
Orofacial granulomatosis successfully treated with mycophenolate mofetil. ( 24831337 )
2014
43
A case series of patients diagnosed with orofacial granulomatosis presenting primarily with dense infiltrates and severe periorbital edema. ( 24836447 )
2014
44
Association between orofacial granulomatosis and Crohn's disease in children: systematic review. ( 24966621 )
2014
45
Oral medicine case book 57: orofacial granulomatosis. ( 24974521 )
2014
46
Vestibular hyperplastic folds. Orofacial granulomatosis. ( 24983176 )
2014
47
Immunophenotype in orofacial granulomatosis with and without Crohn's disease. ( 25350593 )
2014
48
Orofacial Granulomatosis in Children can be the Initial Manifestation of Systemic Disease: A Presentation of Two Cases. ( 25386323 )
2014
49
Clinical evidence for allergy in orofacial granulomatosis and inflammatory bowel disease. ( 23947721 )
2013
50
Orofacial granulomatosis: three case reports illustrating the spectrum of disease and overlap with Crohn's disease. ( 22548302 )
2013

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 48)
# 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
13.46 CCL3 CCL5 F2R IFNG IL10 IL4
4
Show member pathways
13.31 CCL3 CCL5 CCR3 CCR5 CXCR3 IL10
5
Show member pathways
13.24 CCL3 CCL5 CCR5 IFNG IL10 IL4
6
Show member pathways
13.18 CCL3 CCL5 CCR3 CCR5 CXCR3 IL10
7
Show member pathways
12.98 CCL3 CCL5 CCR3 CCR5 TNF
8
Show member pathways
12.95 CCL3 CCL5 IFNG IL10 NOD2 TNF
9
Show member pathways
12.82 CCL3 CCL5 CCR3 CCR5 CXCR3
10
Show member pathways
12.58 CD79A IFNG IL10 IL4 TNF
11
Show member pathways
12.55 IFNG IL10 IL4 NOD2 TNF
12 12.45 CCL5 CD79A IFNG IL10 IL4 TNF
13
Show member pathways
12.35 CCR5 IFNG IL10 IL4 TNF
14
Show member pathways
12.34 CCR5 IFNG IL10 IL4
15
Show member pathways
12.28 CCL5 IFNG IL4 TNF
16
Show member pathways
12.2 IFNG IL10 IL4 TNF
17 12.19 IFNG IL10 NOD2 TNF
18
Show member pathways
12.16 CCL3 CCL5 CCR3 CCR5 CXCR3 F2R
19
Show member pathways
12.16 CCR5 IFNG IL10 IL4 TNF
20
Show member pathways
12.03 CCL3 CCL5 IFNG IL10 IL4
21
Show member pathways
11.99 IFNG IL10 TNF
22
Show member pathways
11.97 IFNG IL4 TNF
23 11.95 IFNG IL4 TNF
24
Show member pathways
11.95 CCL3 CCR5 IFNG IL4
25 11.92 IL10 IL4 TNF
26 11.9 CCL5 NOD2 TNF
27
Show member pathways
11.9 CCL3 CCL5 CCR3 CCR5 CXCR3
28 11.86 CCR5 CXCR3 F2R
29 11.83 IFNG IL10 TNF
30 11.82 CCR5 IFNG IL10
31 11.8 CCR3 CD79A IFNG IL10 IL4 TNF
32 11.79 CCL3 CCL5 IFNG TNF
33
Show member pathways
11.72 IFNG IL4 TNF
34 11.7 IFNG IL10 TNF
35 11.54 CCL3 CXCR3 IFNG IL10 IL4 TNF
36 11.52 CCL3 CCL5 CCR3 IL4 TNF
37 11.51 IFNG IL10 TNF
38 11.47 IFNG IL10 IL4
39 11.29 IFNG IL4 TNF
40 11.28 CCL3 CCL5 IFNG IL10 IL4 TNF
41 11.25 F2RL1 IFNG IL10 TNF
42 11.17 IFNG IL10 IL4
43 11.14 CCR3 F2R IFNG
44 11.13 IFNG IL10 IL4 TNF
45 11.11 CCL3 CCL5 IL10 IL4 TNF
46 10.96 CCL3 CCL5 IL10 IL4 TNF
47 10.89 CCL3 TNF
48 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 9.35 CCR5 CXCR3 F2R NOD2 TNF
2 external side of plasma membrane GO:0009897 9.1 BTNL2 CCR3 CCR5 CD79A CXCR3 TNF

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.99 CCL3 CCL5 IFNG IL10 IL4 TNF
2 cell surface receptor signaling pathway GO:0007166 9.98 CCR5 CD79A CXCR3 IFNG
3 positive regulation of cell migration GO:0030335 9.96 CCL3 CCL5 F2R F2RL1
4 MAPK cascade GO:0000165 9.94 CCL3 CCL5 CCR5 TNF
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.92 F2R F2RL1 NOD2 TNF
6 cellular response to lipopolysaccharide GO:0071222 9.91 CCR5 IL10 NOD2 TNF
7 response to virus GO:0009615 9.88 CCL5 IFNG TNF
8 cytokine-mediated signaling pathway GO:0019221 9.88 CCL3 CCL5 CCR5 IL10 IL4 TNF
9 positive regulation of JNK cascade GO:0046330 9.86 F2RL1 NOD2 TNF
10 B cell differentiation GO:0030183 9.85 CD79A IL10 IL4
11 chemotaxis GO:0006935 9.85 CCL3 CCL5 CCR3 CCR5 CXCR3
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.84 CCL5 IFNG IL4
13 regulation of insulin secretion GO:0050796 9.83 CCL5 IFNG TNF
14 calcium-mediated signaling GO:0019722 9.83 CCL3 CCR3 CCR5 CXCR3
15 positive regulation of cytosolic calcium ion concentration GO:0007204 9.83 CCR3 CCR5 CXCR3 F2R F2RL1
16 positive regulation of T cell proliferation GO:0042102 9.81 BTNL2 CCL5 IL4
17 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 CCL5 F2R F2RL1 TNF
18 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 CCL3 CCL5 F2R F2RL1 NOD2 TNF
19 cellular response to organic cyclic compound GO:0071407 9.78 CCL3 CCL5 NOD2 TNF
20 protein kinase B signaling GO:0043491 9.77 CCL3 CCL5 TNF
21 lipopolysaccharide-mediated signaling pathway GO:0031663 9.74 CCL3 CCL5 TNF
22 regulation of sensory perception of pain GO:0051930 9.73 CCL3 F2R IL10
23 positive regulation of osteoclast differentiation GO:0045672 9.72 IFNG TNF
24 dendritic cell chemotaxis GO:0002407 9.72 CCL5 CCR5
25 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.72 F2RL1 TNF
26 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.71 IFNG TNF
27 negative regulation of growth of symbiont in host GO:0044130 9.71 IL10 TNF
28 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.71 IL10 TNF
29 positive regulation of interleukin-8 secretion GO:2000484 9.71 F2R F2RL1
30 positive regulation of calcium ion transport GO:0051928 9.71 CCL3 CCL5 F2R
31 macrophage chemotaxis GO:0048246 9.7 CCL3 CCL5
32 regulation of blood coagulation GO:0030193 9.7 F2R F2RL1
33 negative regulation by host of viral transcription GO:0043922 9.7 CCL3 CCL5
34 T cell chemotaxis GO:0010818 9.69 CCL3 CXCR3
35 neutrophil activation GO:0042119 9.69 CCL5 F2RL1
36 response to cholesterol GO:0070723 9.69 CCL3 CCR5
37 signaling GO:0023052 9.68 CCL3 CCR5
38 thrombin-activated receptor signaling pathway GO:0070493 9.68 F2R F2RL1
39 cell-cell junction maintenance GO:0045217 9.67 F2R F2RL1
40 endothelial cell apoptotic process GO:0072577 9.67 IL10 TNF
41 positive regulation of MHC class II biosynthetic process GO:0045348 9.65 IL10 IL4
42 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.65 CCL3 CCR5
43 cell chemotaxis GO:0060326 9.65 CCL3 CCL5 CCR3 CCR5 CXCR3
44 negative regulation of cytokine secretion involved in immune response GO:0002740 9.63 IL10 TNF
45 positive regulation of natural killer cell chemotaxis GO:2000503 9.63 CCL3 CCL5
46 regulation of isotype switching GO:0045191 9.62 IL10 IL4
47 type 2 immune response GO:0042092 9.61 IL10 IL4
48 immune response GO:0006955 9.61 CCL3 CCL5 CCR3 CCR5 CXCR3 IFNG
49 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IFNG TNF
50 receptor biosynthetic process GO:0032800 9.58 IL10 TNF

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.89 CCR3 CCR5 CXCR3 F2R F2RL1
2 G-protein alpha-subunit binding GO:0001965 9.51 F2R F2RL1
3 chemokine binding GO:0019956 9.5 CCR3 CCR5 CXCR3
4 G-protein beta-subunit binding GO:0031681 9.48 F2R F2RL1
5 CCR5 chemokine receptor binding GO:0031730 9.46 CCL3 CCL5
6 phospholipase activator activity GO:0016004 9.43 CCL3 CCL5
7 C-C chemokine binding GO:0019957 9.43 CCR3 CCR5 CXCR3
8 CCR1 chemokine receptor binding GO:0031726 9.4 CCL3 CCL5
9 thrombin-activated receptor activity GO:0015057 9.37 F2R F2RL1
10 C-C chemokine receptor activity GO:0016493 9.33 CCR3 CCR5 CXCR3
11 chemokine receptor activity GO:0004950 9.13 CCR3 CCR5 CXCR3
12 cytokine activity GO:0005125 9.1 CCL3 CCL5 IFNG IL10 IL4 TNF

Sources for Orofacial Granulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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