MCID: IGG007
MIFTS: 47

Igg4-Related Disease

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Igg4-Related Disease

MalaCards integrated aliases for Igg4-Related Disease:

Name: Igg4-Related Disease 12 74 52 58 15
Multifocal Fibrosclerosis 52 71 32
Immunoglobulin G4-Related Sclerosing Disease 52 58
Igg4-Related Sclerosing Disease 52 58
Igg4-Related Systemic Disease 52 58
Igg4-Positive Multiorgan Lymphoproliferative Syndrome 52
Systemic Igg4-Related Plasmacytic Syndrome 52
Systemic Igg4-Related Sclerosing Syndrome 52
Igg4-Related Systemic Sclerosing Disease 52
Multifocal Idiopathic Fibrosclerosis 52
Retroperitoneal Fibrosis, Familial 52
Igg4-Related Autoimmune Disease 52
Mediastinal Fibrosis, Familial 52
Igg4-Associated Disease 52
Hyper-Igg4 Disease 52
Igg4-Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
igg4-related disease
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0080356
ICD10 32 M35.5
UMLS via Orphanet 72 C3203653
Orphanet 58 ORPHA284264
UMLS 71 C0494949

Summaries for Igg4-Related Disease

NIH Rare Diseases : 52 IgG4-related disease is an immune-mediated condition that can affect multiple organ systems. Common features include IgG4-related autoimmune pancreatitis , swelling of or within an organ system (an inflammatory pseudotumor), salivary gland disease (which can lead to enlargement of the salivary glands), swollen lymph nodes (lymphadenopathy ), skin manifestations, and symptoms consistent with allergies or asthma. The cause of IgG4-related disease is unknown. Some researchers believe that it may be an autoimmune or allergic disorder. IgG4-related disease is usually treated with systemic steroids like prednisone . Immunosuppressive medications (azathioprine or mycophenolate mofetil ) and biologics (rituximab or bortezomib ) may be used in those who don't respond to steroids or for longer-term management. In severe cases, organ replacement therapy may be needed.

MalaCards based summary : Igg4-Related Disease, also known as multifocal fibrosclerosis, is related to sialadenitis and interstitial nephritis. An important gene associated with Igg4-Related Disease is IL4 (Interleukin 4), and among its related pathways/superpathways are PEDF Induced Signaling and Innate Immune System. The drugs Methylprednisolone hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lung and salivary gland, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 An autoimmune hypersensitivity disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs.

Wikipedia : 74 IgG4-related disease (IgG4-RD), formerly known as IgG4-related systemic disease, is a chronic... more...

Related Diseases for Igg4-Related Disease

Diseases related to Igg4-Related Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 625)
# Related Disease Score Top Affiliating Genes
1 sialadenitis 30.6 TNFSF13B ICOSLG CD4 CCR6
2 interstitial nephritis 30.5 PDCD1 ICOSLG CRP
3 purpura 30.4 TNFSF13B IL4 CRP
4 polyclonal hypergammaglobulinemia 30.3 TNFSF13B CRP CD4
5 mikulicz disease 30.3 SLAMF7 PLA2R1 KNTC1 IL4 ICOSLG CRP
6 dacryoadenitis 30.2 KNTC1 ICOSLG CD4 CCR6
7 aortitis 30.1 PRTN3 CRP
8 rhinitis 30.1 NR3C1 IL4 IL33 ICOSLG
9 keratoconjunctivitis sicca 30.0 IL4 CD4 CCR6
10 abdominal tuberculosis 29.9 CRP CD4
11 sarcoidosis 1 29.9 ICOSLG CRP CD4 CCR6
12 multicentric castleman disease 29.9 SDC1 CRP CD4
13 orbital disease 29.8 PRTN3 KNTC1 CRP
14 lung disease 29.8 PRTN3 PDCD1 IL4 CRP
15 thrombocytopenic purpura, autoimmune 29.8 ICOSLG CD4 CCR6
16 genital herpes 29.7 IL4 CD4 CCR6
17 anemia, autoimmune hemolytic 29.7 TNFSF13B ICOSLG CD4
18 salivary gland disease 29.7 TNFSF13B ICOSLG CD4 CCR6
19 lymphoma, mucosa-associated lymphoid type 29.7 TNFSF13B SDC1 CD4 CCR6
20 syphilis 29.7 CRP CD4 CCR6
21 posterior scleritis 29.6 PRTN3 CRP
22 xerophthalmia 29.6 TNFSF13B CRP CD4
23 vitiligo-associated multiple autoimmune disease susceptibility 1 29.5 PDCD1 ICOSLG CD4 CCR6
24 scleritis 29.5 PRTN3 IL4 CRP CCR6
25 interstitial lung disease 29.5 PRTN3 IL4 IL33 CRP
26 iritis 29.5 CRP CD4 CCR6
27 panuveitis 29.5 CRP CD4 CCR6
28 optic nerve disease 29.4 ICOSLG CRP CD4 CCR6
29 chronic orbital inflammation 29.4 PRTN3 KNTC1 CRP
30 multiple cranial nerve palsy 29.4 PRTN3 CRP
31 pleural disease 29.4 CRP CD4 CCR6
32 peritonitis 29.4 PRTN3 IL4 CRP
33 cholangitis, primary sclerosing 29.4 PRTN3 ICOSLG CD4 CCR6
34 allergic hypersensitivity disease 29.3 IL4 ICOSLG CD4 CCR6
35 bile duct disease 29.2 ICOSLG CRP CD4 CCR6
36 chronic conjunctivitis 29.2 IL4 IL33 ICOSLG CD4 CCR6
37 common cold 29.2 IL4 IL33 ICOSLG CD4 CCR6
38 mastoiditis 29.1 PRTN3 CRP CD4
39 cellulitis 29.1 ICOSLG CRP CD4 CCR6
40 orbital plasma cell granuloma 29.1 PRTN3 KNTC1 CRP
41 dermatitis, atopic 29.1 IL4 IL33 ICOSLG CD4 CCR6
42 skin disease 29.0 IL4 ICOSLG CRP CD4 CCR6
43 mononeuritis multiplex 28.9 PRTN3 CRP CD4
44 facial paralysis 28.9 PRTN3 CRP CD4
45 crohn's disease 28.9 IL4 ICOSLG CRP CD4 CCR6
46 ulcerative colitis 28.8 PRTN3 IL4 CRP CCR6
47 lymphadenitis 28.8 PDCD1 ICOSLG CRP CD4 CCR6
48 temporal arteritis 28.8 PRTN3 CRP CD4 CCR6
49 autoimmune disease 28.8 TNFSF13B TNFSF13 PRTN3 PDCD1 IL4 ICOSLG
50 lymphoma, non-hodgkin, familial 28.8 TNFSF13B SDC1 IL4 ICOSLG CD4 CCR6

Graphical network of the top 20 diseases related to Igg4-Related Disease:



Diseases related to Igg4-Related Disease

Symptoms & Phenotypes for Igg4-Related Disease

MGI Mouse Phenotypes related to Igg4-Related Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.77 CCR6 CD4 GDF15 IL33 IL4 MARCO
2 immune system MP:0005387 9.47 CCR6 CD4 CRP IL33 IL4 MARCO

Drugs & Therapeutics for Igg4-Related Disease

Drugs for Igg4-Related Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
8
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 Methylprednisolone Acetate Phase 4
10 Liver Extracts Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Hormone Antagonists Phase 4
14 glucocorticoids Phase 4
15 Hormones Phase 4
16 Betamethasone benzoate Phase 4
17 Betamethasone Valerate Phase 4 2152-44-5
18 Betamethasone sodium phosphate Phase 4
19 Betamethasone dipropionate, betamethasone sodium phosphate drug combination Phase 4
20 Betamethasone-17,21-dipropionate Phase 4
21
Mycophenolic acid Approved Phase 2 24280-93-1 446541
22
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
23
Abatacept Approved Phase 2 332348-12-6 10237
24 Antitubercular Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Anti-Infective Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Antineoplastic Agents, Immunological Phase 1, Phase 2
29 Immunosuppressive Agents Phase 2
30 Antirheumatic Agents Phase 2
31
Lenalidomide Approved Phase 1 191732-72-6 216326
32 Angiogenesis Inhibitors Phase 1
33
Leflunomide Approved, Investigational 75706-12-6 3899
34
Methotrexate Approved 1959-05-2, 59-05-2 126941
35
Azathioprine Approved 446-86-6 2265
36 Fluorides Early Phase 1
37 Fluorodeoxyglucose F18 Early Phase 1
38 Deoxyglucose Early Phase 1
39 Radiopharmaceuticals Early Phase 1
40 Vaccines
41 Autoantibodies
42 Immunologic Factors
43 Immunoglobulin G
44 Immunoglobulins
45 Antibodies

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Study of Safety and Efficacy of Leflunomide for Maintenance of Remission in IgG4 Related Disease Completed NCT02703194 Phase 4 Prednisone;Leflunomide
2 To Evaluate the Clinical Efficacy of Iguratimod in the Treatment of IgG4 Related Disease (IgG4-RD) With Mild Symptom Recruiting NCT03368274 Phase 4 T 614
3 A Randomized Trial of Glucocorticoids in Patients With IgG4-Related Disease Unknown status NCT01758393 Phase 2, Phase 3 Prednisone
4 A Randomized Trial of Treatment in Patients With IgG4-Related Disease Unknown status NCT02458196 Phase 2 Prednisone;Prednisone and Mycophenolate mofetil
5 An Open-label, Single-arm, Pilot Study to Evaluate the Effect of XmAb®5871 on Disease Activity in Patients With IgG4-Related Disease Completed NCT02725476 Phase 2
6 Rituximab (RTX) for IgG4-related Disease (IgG4-RD): a Prospective,Open-label Trial Completed NCT01584388 Phase 1, Phase 2 Rituximab
7 A Prospective, Open-label, Single Center Abatacept in IgG4-Related Disease 10-patient Proof-of-concept Study Recruiting NCT03669861 Phase 2 Abatacept
8 Treatment of IgG4-Related Disease With Revlimid and Rituximab: The TIGR2 Trial Completed NCT02705638 Phase 1 Rituximab;Lenalidomide
9 Evaluation of 18F-FDG PET/CT in Diagnosis and Response Assessment of Patients With IgG4-Related Disease Unknown status NCT01665196 Early Phase 1 18F-FDG
10 A Laboratory Scan of Patients With Aortic Aneurysms to IgG4 Levels in the Blood Unknown status NCT03267875
11 Follicular Helper T Cells: Biological Marker and Involvement in the Physiopathology of the IgG4-related Disease Completed NCT02899039
12 A Survey of Patients With Elevated Serum IGG4 With Unknown IGG4-related Disease to Whom Biopsy and Performance of Subsequent Specific Staining for Clinical, Laboratory and Pathologic Correlation. Completed NCT02229448
13 Infraorbital Nerve Involvement on Magnetic Resonance Imaging in European Patients With IgG4-related Ophthalmic Disease Completed NCT03690908
14 Cohort Study of Patients With IgG4-Related Disease Recruiting NCT01670695
15 National Registry of IgG4-RD in China Recruiting NCT03023371
16 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
17 Characterizing IgG4-related Disease With 68Ga-FAPI PET/CT Not yet recruiting NCT04125511 Early Phase 1 68Ga-FAPI
18 Evaluation and Prediction of Relapse Risk After Glucocorticoid and Immunosuppressant Withdrawal in Patients With Stable IgG4 Related Disease: An Open-labeled Multi-centric Randomized Controlled Study From China Not yet recruiting NCT04124861 Drug free, IS monotherapy and GC combined with IS
19 Plasmablast Detection From IgG4-Related Disease Patients Not yet recruiting NCT03466970
20 Evaluation Of Pleural Effusion At Assiut University Hospital Not yet recruiting NCT03260088
21 Characterization of Tissular T Follicular Helper Cells in IgG4-RD Not yet recruiting NCT02872441

Search NIH Clinical Center for Igg4-Related Disease

Genetic Tests for Igg4-Related Disease

Anatomical Context for Igg4-Related Disease

MalaCards organs/tissues related to Igg4-Related Disease:

40
Thyroid, Lung, Salivary Gland, B Cells, Skin, Kidney, T Cells

Publications for Igg4-Related Disease

Articles related to Igg4-Related Disease:

(show top 50) (show all 1802)
# Title Authors PMID Year
1
Immune mechanisms of fibrosis and inflammation in IgG4-related disease. 61
31842033 2020
2
Isolated involvement of thyroid gland by IgG4-related disease revealed by 18F-FDG PET/CT. 61
31768598 2020
3
Response to: 'Dupilumab as a potential steroid-sparing treatment for IgG4-related disease' by Della-Torre et al. 61
32033938 2020
4
Changes in Serum Immunoglobulin G4 Levels in Patients with Newly Diagnosed Graves' Disease. 61
30235492 2020
5
Evaluation of a novel serum IgG4 assay and determination of reference interval for the Japanese population. 61
31730813 2020
6
Response to : 'Interleukin-4 as a emerging target for IgG4-related disease' by Akiyama et al. 61
32033942 2020
7
Efficacy and safety of iguratimod on patients with relapsed or refractory IgG4-related disease. 61
31848912 2020
8
Recurrent myelitis and asymptomatic hypophysitis in IgG4-related disease: case-based review. 61
31898763 2020
9
Cytotoxic Tph-like cells are involved in persistent tissue damage in IgG4-related disease. 61
32023137 2020
10
Hemosiderin deposition in lymph nodes of patients with plasma cell-type Castleman disease. 61
32037354 2020
11
Efficacy of dupilumab reveals therapeutic target for IgG4-related disease: simultaneous control of inflammation and fibrosis. 61
32033936 2020
12
Association of IgG4-Related Arteritis With Recurrent Stroke. 61
31796239 2020
13
Severe pulmonary vein stenosis in association with IgG4 gammopathy: An unusual case. 61
31945218 2020
14
A reappraisal of sclerosing nodular and/or polypoid lesions of the gastrointestinal tract rich in IgG4 plasma cells. 61
31919879 2020
15
Hide and seek. 61
30521818 2020
16
Major salivary gland enlargement in IgG4-related disease is associated with multiorgan involvement and higher basal disease activity. 61
30676828 2020
17
Expansion of a Novel Subset of PD1+CXCR5-CD4+ T Peripheral Helper Cells in IgG4-Related Disease. 61
31977453 2020
18
Comment on article: 'Dupilumab as a novel steroid-sparing treatment for IgG4-related disease' by Simpson et al. 61
31996366 2020
19
New paradigm of B-cell biology regarding the elucidation of a new mechanism of tissue fibrosis in IgG4-related disease. 61
31954774 2020
20
Significance of peripheral eosinophilia for diagnosis of IgG4-related disease in subjects with elevated serum IgG4 levels. 61
31791884 2020
21
Activated M2 Macrophages Contribute to the Pathogenesis of IgG4-Related Disease via Toll-like Receptor 7/Interleukin-33 Signaling. 61
31339007 2020
22
CO-OCCURRENCE OF CRANIOPHARYNGIOMA AND IgG4-RELATED HYPOPHYSITIS: AN EPIPHENOMENON OR A MERE CO-INCIDENCE? 61
31927125 2020
23
IgG4-related disease: How to place it in the spectrum of immune-mediated and rheumatologic disorders? 61
31852351 2020
24
Concurrent anti-neutrophil cytoplasmic antibody-associated glomerulonephritis and IgG4-associated tubulointerstitial nephritis with C3 glomerulonephritis: A case report. 61
32000387 2020
25
Marginal zone B-cell lymphoma: lessons from Western and Eastern diagnostic approaches. 61
31757436 2020
26
IgG4-related orbitopathy as an important differential diagnosis of advanced silent sinus syndrome. 61
31915884 2020
27
First case report of pheochromocytoma and IgG4-related disease. Cause or coincidence? 61
31928980 2020
28
Bilateral IgG4-related Ophthalmic Disease With Diffuse Large B-cell Lymphoma of the Right Eye: A Case Report. 61
31923092 2020
29
Radiotherapy alone for stage IE ocular adnexal mucosa-associated lymphoid tissue lymphomas: long-term results. 61
32000814 2020
30
Genetic analysis of IgG4-related disease. 61
31104539 2020
31
IgG4-related Disease with a Cardiac Mass. 61
31956206 2020
32
International classification criteria created for IgG4-related disease. 61
31908354 2020
33
Pathogenesis of IgG4-related disease. Comparison with Sjögren's syndrome. 61
31425659 2020
34
Clinical implications of elevated serum interleukin-6 in IgG4-related disease. 61
31951598 2020
35
Interleukin-4 as an emerging therapeutic target for IgG4-related disease. 61
31959595 2020
36
IgG4-related disease: rare presentation as a soft-tissue mass in the thigh of an adolescent. 61
31165193 2020
37
Classification of IgG4-Related Disease: A Medical Marvel of Our Time. 61
31883235 2020
38
Identifying clinical subgroups in IgG4-related disease patients using cluster analysis and IgG4-RD composite score. 61
31924265 2020
39
Dupilumab as a potential steroid-sparing treatment for IgG4-related disease. 61
31937521 2020
40
The 2019 American College of Rheumatology/European League Against Rheumatism classification criteria for IgG4-related disease. 61
31796497 2020
41
The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease. 61
31793250 2020
42
Clinical and pathological features of patients with antineutrophil cytoplasmic antibody-associated vasculitides concomitant with IgG4-related disease. 61
31631507 2019
43
Inflammatory pseudotumour of the alveolar process of the maxilla as clinical manifestation of IgG4-related disease: a case report and literature review. 61
31864897 2019
44
Clinical presentation, treatment and outcome of IgG4-related pachymeningitis: From a national case registry and literature review. 61
31155444 2019
45
Clinical and Pathological Characteristics of IgG4-Related Periaortitis/Periarteritis and Retroperitoneal Fibrosis Diagnosed Based on Experts' Diagnosis. 61
31942203 2019
46
Pleural chondroid metaplasia in a background of IgG4 plasma cell rich chronic inflammatory infiltrate: report of a rare case with review of literature. 61
31965113 2019
47
Histiocytosis masquerading in the mesentery and pleura. 61
31791991 2019
48
Clinicopathological analysis of ANCA-associated glomerulonephritis focusing on plasma cell infiltrate. 61
31485791 2019
49
Dupilumab as a novel steroid-sparing treatment for IgG4-related disease. 61
31857343 2019
50
High-throughput sequencing of CD4+ T cell repertoire reveals disease-specific signatures in IgG4-related disease. 61
31856905 2019

Variations for Igg4-Related Disease

Expression for Igg4-Related Disease

Search GEO for disease gene expression data for Igg4-Related Disease.

Pathways for Igg4-Related Disease

Pathways related to Igg4-Related Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 TNFSF13B TNFSF13 NR3C1 IL4 IL33 GDF15
2
Show member pathways
13.33 TNFSF13B TNFSF13 SLAMF7 PRTN3 PHB PDCD1
3
Show member pathways
13.02 TNFSF13B TNFSF13 PRTN3 PHB IL4 IL33
4
Show member pathways
12.54 TNFSF13B TNFSF13 IL4 ICOSLG CD4
5 11.62 SDC1 PDCD1 ICOSLG CD4
6 11.22 SDC1 PDCD1 CD4
7 11.1 IL4 IL33 CD4
8 10.83 IL4 IL33 CD4 CCR6

GO Terms for Igg4-Related Disease

Cellular components related to Igg4-Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 TNFSF13B SLAMF7 SDC1 PRTN3 PLA2R1 PHB
2 extracellular region GO:0005576 9.61 TNFSF13B TNFSF13 SDC1 PRTN3 PLA2R1 IL4
3 external side of plasma membrane GO:0009897 9.02 SDC1 PDCD1 ICOSLG CD4 CCR6

Biological processes related to Igg4-Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.83 TNFSF13B TNFSF13 IL4 CD4 CCR6
2 cytokine-mediated signaling pathway GO:0019221 9.76 SDC1 PRTN3 IL4 CD4
3 regulation of immune response GO:0050776 9.67 TNFSF13B SLAMF7 IL4 ICOSLG
4 positive regulation of T cell proliferation GO:0042102 9.5 TNFSF13B IL4 CD4
5 T cell costimulation GO:0031295 9.43 TNFSF13B PDCD1 ICOSLG
6 immune system process GO:0002376 9.43 TNFSF13B SLAMF7 PDCD1 MARCO ICOSLG CD4
7 positive regulation of interleukin-13 production GO:0032736 9.4 IL4 IL33
8 T cell activation GO:0042110 9.33 IL4 ICOSLG CD4
9 signal transduction GO:0007165 9.28 TNFSF13B TNFSF13 PHB NR3C1 IL4 ICOSLG

Molecular functions related to Igg4-Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.35 TNFSF13B TNFSF13 PRTN3 ICOSLG CD4
2 cytokine activity GO:0005125 9.02 TNFSF13B TNFSF13 IL4 IL33 GDF15

Sources for Igg4-Related Disease

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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