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 autoimmune pancreatitis and mikulicz disease. An important gene associated with Igg4-Related Disease is IL4 (Interleukin 4), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. The drugs Betamethasone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, lung and skin, and related phenotypes are hematopoietic system and homeostasis/metabolism

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 647)
# Related Disease Score Top Affiliating Genes
1 autoimmune pancreatitis 31.4 TNFSF13B IL33 CD4
2 mikulicz disease 31.2 SLAMF7 KNTC1 IL4 CRP CD4 CCR6
3 sialadenitis 30.6 TNFSF13B ICOSLG CD4 CCR6
4 purpura 30.5 TNFSF13B IL4 CRP
5 polyclonal hypergammaglobulinemia 30.3 TNFSF13B CRP CD4
6 interstitial nephritis 30.2 PDCD1 ICOSLG CRP CCR6
7 rhinitis 30.2 NR3C1 IL4 IL33 ICOSLG
8 dacryoadenitis 30.0 KNTC1 IL4 ICOSLG CD4 CCR6
9 sarcoidosis 1 30.0 ICOSLG CRP CD4 CCR6
10 posterior uveitis 29.9 IL4 ICOSLG CCR6
11 multicentric castleman disease 29.9 SDC1 CRP CD4
12 orbital disease 29.9 PRTN3 KNTC1 CRP
13 aortitis 29.8 PRTN3 CRP CD4
14 keratoconjunctivitis sicca 29.8 TNFSF13B IL4 CD4 CCR6
15 lung disease 29.8 PRTN3 PDCD1 IL4 CRP
16 thrombocytopenic purpura, autoimmune 29.8 ICOSLG CD4 CCR6
17 genital herpes 29.7 IL4 CD4 CCR6
18 salivary gland disease 29.7 TNFSF13B ICOSLG CD4 CCR6
19 posterior scleritis 29.6 PRTN3 CRP
20 pleural disease 29.6 CRP CD4 CCR6
21 orchitis 29.6 IL4 CRP CD4
22 xerophthalmia 29.6 TNFSF13B CRP CD4
23 interstitial lung disease 29.6 PRTN3 IL4 IL33 CRP
24 scleritis 29.5 PRTN3 IL4 CRP CCR6
25 vitiligo-associated multiple autoimmune disease susceptibility 1 29.5 PDCD1 ICOSLG CD4 CCR6
26 iritis 29.5 CRP CD4 CCR6
27 optic nerve disease 29.4 ICOSLG CRP CD4 CCR6
28 chronic orbital inflammation 29.4 PRTN3 KNTC1 CRP
29 orbital cancer 29.4 PRTN3 KNTC1
30 anemia, autoimmune hemolytic 29.4 TNFSF13B ICOSLG CD4 CCR6
31 cholangitis, primary sclerosing 29.4 PRTN3 ICOSLG CD4 CCR6
32 multiple cranial nerve palsy 29.4 PRTN3 CRP
33 thrombocytopenia 29.3 TNFSF13B TLR7 PDCD1 IL4 CRP
34 lymphoma, mucosa-associated lymphoid type 29.3 TNFSF13B SDC1 ICOSLG CD4 CCR6
35 pleural empyema 29.2 SDC1 CRP CD4
36 bile duct disease 29.2 ICOSLG CRP CD4 CCR6
37 skin disease 29.2 IL4 ICOSLG CRP CD4 CCR6
38 chronic conjunctivitis 29.2 IL4 IL33 ICOSLG CD4 CCR6
39 common cold 29.1 IL4 IL33 ICOSLG CD4 CCR6
40 mastoiditis 29.1 PRTN3 CRP CD4
41 panuveitis 29.1 ICOSLG CRP CD4 CCR6
42 autoimmune disease 29.1 TNFSF13B PRTN3 PDCD1 IL4 ICOSLG CRP
43 orbital plasma cell granuloma 29.1 PRTN3 KNTC1 CRP
44 peritonitis 29.1 PRTN3 IL4 CRP
45 dermatitis, atopic 29.1 LGALS3 IL4 IL33 ICOSLG CD4 CCR6
46 mononeuritis multiplex 28.9 PRTN3 CRP CD4
47 cellulitis 28.9 IL4 ICOSLG CRP CD4 CCR6
48 facial paralysis 28.9 PRTN3 CRP CD4
49 systemic scleroderma 28.9 IL4 ICOSLG CRP CD4 CCR6
50 crohn's disease 28.9 IL4 ICOSLG CRP 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 9.97 CCR6 CD4 IL33 IL4 LGALS3 MARCO
2 homeostasis/metabolism MP:0005376 9.73 CCR6 CD4 CRP IL33 IL4 KNTC1
3 immune system MP:0005387 9.5 CCR6 CD4 CRP IL33 IL4 LGALS3

Drugs & Therapeutics for Igg4-Related Disease

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 glucocorticoids Phase 4
10 Betamethasone sodium phosphate Phase 4
11 Betamethasone benzoate Phase 4
12 Betamethasone Valerate Phase 4 2152-44-5
13 Betamethasone-17,21-dipropionate Phase 4
14 Betamethasone dipropionate, betamethasone sodium phosphate drug combination Phase 4
15 Hormones Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Methylprednisolone Acetate Phase 4
18 Hormone Antagonists Phase 4
19 Liver Extracts Phase 4
20 Anti-Inflammatory Agents 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 Anti-Infective Agents Phase 2
25 Antitubercular Agents Phase 2
26 Anti-Bacterial Agents Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Antineoplastic Agents, Immunological Phase 1, Phase 2
29 Immunologic Factors Phase 2
30 Immunosuppressive Agents Phase 2
31 Antirheumatic Agents Phase 2
32
Lenalidomide Approved Phase 1 191732-72-6 216326
33 Angiogenesis Inhibitors Phase 1
34
Leflunomide Approved, Investigational 75706-12-6 3899
35
Methotrexate Approved 59-05-2, 1959-05-2 126941
36
Azathioprine Approved 446-86-6 2265
37 Fluorides Early Phase 1
38 Fluorodeoxyglucose F18 Early Phase 1
39 Antiviral Agents Early Phase 1
40 Deoxyglucose Early Phase 1
41 Radiopharmaceuticals Early Phase 1
42 Antimetabolites Early Phase 1
43 Immunoglobulins
44 Antibodies
45 Immunoglobulins, Intravenous
46 Immunoglobulin G
47 Vaccines
48 Autoantibodies

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 To Evaluate the Clinical Efficacy of Iguratimod in the Treatment of IgG4 Related Disease (IgG4-RD) With Mild Symptom Unknown status NCT03368274 Phase 4 T 614
2 A Study of Safety and Efficacy of Leflunomide for Maintenance of Remission in IgG4 Related Disease Completed NCT02703194 Phase 4 Prednisone;Leflunomide
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 Active, not 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 Plasmablast Detection From IgG4-Related Disease Patients Unknown status NCT03466970
12 Evaluation Of Pleural Effusion At Assiut University Hospital Unknown status NCT03260088
13 Characterization of Tissular T Follicular Helper Cells in IgG4-RD Unknown status NCT02872441
14 Follicular Helper T Cells: Biological Marker and Involvement in the Physiopathology of the IgG4-related Disease Completed NCT02899039
15 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
16 Infraorbital Nerve Involvement on Magnetic Resonance Imaging in European Patients With IgG4-related Ophthalmic Disease Completed NCT03690908
17 Cohort Study of Patients With IgG4-Related Disease Recruiting NCT01670695
18 Characterizing IgG4-related Disease With 68Ga-FAPI PET/CT Recruiting NCT04125511 Early Phase 1 68Ga-FAPI
19 National Registry of IgG4-RD in China Recruiting NCT03023371
20 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
21 Comparative Autoantibody and Immunologic Cell Marker Study Suspended NCT02422875

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
Salivary Gland, Lung, Skin, Thyroid, Kidney, Lymph Node, B Cells

Publications for Igg4-Related Disease

Articles related to Igg4-Related Disease:

(show top 50) (show all 1899)
# Title Authors PMID Year
1
IgG4-rich reactive lymphoid hyperplasia of the lacrimal gland. 61
31724473 2020
2
Synchronous detection of SDHA-related gallbladder paraganglioma and pancreatic neuroendocrine tumor. 61
32534711 2020
3
Immunoglobulin G4-related spinal pachymeningitis. 61
32518934 2020
4
Low-density lipoprotein apheresis for PLA2R-related membranous glomerulonephritis accompanied by IgG4-related tubulointerstitial nephritis. 61
32557252 2020
5
Disease severity is linked to an increase in autoantibody diversity in IgG4-related disease: comment on the article by Liu H et al. 61
32524742 2020
6
Sonographic Features of Salivary Glands in Sjögren's Syndrome and its Mimics. 61
32562049 2020
7
Orbital pseudotumor as the presenting symptom of Crohn's disease in a male child. 61
32215344 2020
8
IgG4-positive plasma cells in Hashimoto thyroiditis: IgG4-related disease or inflammation-related IgG4-positivity? 61
32578252 2020
9
Antineoplastic Drug-induced Aortitis: An Unraveled Adverse Effect Using the World Health Organization Pharmacovigilance Database. 61
32482651 2020
10
Disease severity linked to increase in autoantibody diversity in IgG4-related disease: response to Shiokawa et al. 61
32524774 2020
11
Development of efficient on-bead protein elution process coupled to ultra-high performance liquid chromatography-tandem mass spectrometry to determine immunoglobulin G subclass and glycosylation for discovery of bio-signatures in pancreatic disease. 61
32295703 2020
12
IgG4-related disease and allergen-specific immunotherapy. 61
32240759 2020
13
Advances in the diagnosis and management of IgG4 related disease. 61
32546500 2020
14
IgG4 related disease - a rare case of isolated cutaneous involvement. 61
32531818 2020
15
Scleredema and nodal inflammatory pseudotumor: IgG4-related disease? 61
32530044 2020
16
Case report of IgG4-related appendiceal disease: A challenging disease. 61
32569185 2020
17
Involvement of Multiple Trigeminal Nerve Branches in IgG4-Related Orbital Disease. 61
32501880 2020
18
IgG4-related kidney disease: experience from a Mexican cohort. 61
32488771 2020
19
Fibroblast activation protein targeted PET/CT with 68Ga-FAPI for imaging IgG4-related disease: comparison to 18F-FDG PET/CT. 61
32513902 2020
20
Inflammatory pseudotumour of the alveolar process of the maxilla as clinical manifestation of IgG4-related disease: a case report and literature review. 61
31864897 2020
21
Curious Case of Retroperitoneal Mass with Elevated Serum IgG3 Levels: An Exception to the 2019 ACR/EULAR Classification Criteria for IgG4-Related Disease. 61
32564475 2020
22
Thoracic paravertebral involvement in patients with IgG4-related disease: CT and MR imaging findings. 61
32556185 2020
23
IgG4-Related Disease with Ascites: Report of a Case Simulating Primary Peritoneal Papillary Serous Carcinoma. 61
32556817 2020
24
Anterior Mediastinal Mass Associated with Febrile Syndrome as a Single Manifestation of IgG4-Related Disease. 61
32576398 2020
25
Association of circulating SLAMF7+Tfh1 cells with IgG4 levels in patients with IgG4-related disease. 61
32487061 2020
26
Pleural and Pericardial Effusion as the Only Manifestation of IgG4-Related Disease. 61
32499098 2020
27
IgG4-Related Disease with Selective Testicular Involvement- A Rare Entity: Case Report with Review of Literature. 61
32525212 2020
28
IgG4 plasma cell myeloma: Clinicopathological characteristics and diagnosis. 61
32519464 2020
29
A Case Series of Patients with Isolated IgG4-related Hypophysitis Treated with Rituximab. 61
32537540 2020
30
Peribiliary Pseudotumor Like Presentation of IgG4 Related Disease. 61
32419100 2020
31
IgG4-related disease in the differential diagnosis of lung nodules. 61
32180984 2020
32
Autoimmune hepatitis and IgG4 related disease: a diagnostic challenge. 61
32388968 2020
33
Neurological symptoms as the initial manifestation of IgG4-related disease. 61
29108661 2020
34
IgG4-related Disease with a Cardiac Mass. 61
31956206 2020
35
IgG4-related disease: a clinical perspective. 61
32348524 2020
36
IgG4-related disease presenting as a submucosal tumor of the stomach resected with laparoscopic endoscopic cooperative surgery: a case report. 61
32382972 2020
37
Chronic Inflammatory Disease in the Pancreas, Kidney and Salivary Glands of English Cocker Spaniels and Dogs of Other Breeds Shows Similar Histological Features to Human IgG4-related Disease. 61
32505237 2020
38
The broad and challenging landscape of extranodal lymphoproliferations. 61
31758317 2020
39
Clinical-Radiological Patterns and Histopathological Outcomes in Non-Thyroid Extraocular Muscle Enlargement: Retrospective Case Series and Current Concepts. 61
31789785 2020
40
The utility of serum C-C chemokine ligand 1 in sarcoidosis: A comparison to IgG4-related disease. 61
32447247 2020
41
Lip edema in a young female: an unusual cause. 61
32379401 2020
42
[Recent Updates of Immunoglobulin G4-related Pancreatobiliary Disease]. 61
32448857 2020
43
Interleukin-35 promotes the differentiation of regulatory T cells and suppresses Th2 response in IgG4-related type 1 autoimmune pancreatitis. 61
32377945 2020
44
Gastric IgG4-related disease presenting as a mass lesion and masquerading as a gastrointestinal stromal tumor. 61
32126738 2020
45
Definite IgG4-related disease had no overlap with eosinophilic granulomatosis with polyangiitis in Korean patients: a pilot study in one centre. 61
32367405 2020
46
Clinical characteristics of IgG4-RD patients infected with COVID-19 in Hubei, China. 61
32425259 2020
47
IgG4 sclerosing disease of the esophagus: a case-based review. 61
32358641 2020
48
Eosinophilic granulomatous polyangiitis with IgG4 hypergammaglobulinaemia and salivary gland swelling. 61
32257216 2020
49
CD4+ and CD8+ cytotoxic T lymphocytes may induce mesenchymal cell apoptosis in IgG4-related disease. 61
32485263 2020
50
CT Findings of Upper Urinary Tract Lesions in IgG4-Related Disease: Comparison With Urothelial Carcinoma. 61
32374662 2020

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
13.03 TNFSF13B TLR7 SLAMF7 PRTN3 PHB PDCD1
2 12.07 TNFSF13B TLR7 PDCD1 LGALS3 IL4
3 11.73 SDC1 PDCD1 ICOSLG CD4
4
Show member pathways
11.5 TLR7 IL4 CD4
5 11.16 IL4 IL33 CD4
6 11.16 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 external side of plasma membrane GO:0009897 9.55 SDC1 PDCD1 ICOSLG CD4 CCR6
2 plasma membrane GO:0005886 9.47 TNFSF13B TLR7 SLAMF7 SDC1 PRTN3 PLA2R1
3 cell surface GO:0009986 9.43 SDC1 PLA2R1 PHB LGALS3 CD4 CCR6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.08 TNFSF13B TLR7 PHB NR3C1 IL4 ICOSLG
2 innate immune response GO:0045087 9.91 TLR7 SLAMF7 MARCO LGALS3 CRP
3 immune response GO:0006955 9.85 TNFSF13B TLR7 IL4 CD4 CCR6
4 cytokine-mediated signaling pathway GO:0019221 9.8 SDC1 PRTN3 IL4 CD4
5 positive regulation of T cell proliferation GO:0042102 9.58 TNFSF13B IL4 CD4
6 T cell costimulation GO:0031295 9.5 TNFSF13B PDCD1 ICOSLG
7 positive regulation of interleukin-13 production GO:0032736 9.43 IL4 IL33
8 T cell activation GO:0042110 9.43 IL4 ICOSLG CD4
9 positive regulation of mononuclear cell migration GO:0071677 9.37 LGALS3 IL4
10 regulation of immune response GO:0050776 9.35 TNFSF13B SLAMF7 PDCD1 IL4 ICOSLG
11 immune system process GO:0002376 9.23 TNFSF13B TLR7 SLAMF7 PDCD1 MARCO LGALS3
12 B cell costimulation GO:0031296 9.16 TNFSF13B IL4

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

# Name GO ID Score Top Affiliating Genes
1 pattern recognition receptor activity GO:0038187 8.62 TLR7 MARCO

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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