MCID: FBR089
MIFTS: 38

Fibrosclerosis, Multifocal

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Fibrosclerosis, Multifocal

MalaCards integrated aliases for Fibrosclerosis, Multifocal:

Name: Fibrosclerosis, Multifocal 56
Idiopathic Retroperitoneal Fibrosis 58 71
Igg4-Related Retroperitoneal Fibrosis 58
Retroperitoneal Fibrosis, Familial 56
Mediastinal Fibrosis, Familial 56
Retroperitoneal Fibrosis 71
Ormond Disease 58

Characteristics:

Orphanet epidemiological data:

58
igg4-related retroperitoneal fibrosis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fibrosclerosis, multifocal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Fibrosclerosis, Multifocal

MalaCards based summary : Fibrosclerosis, Multifocal, also known as idiopathic retroperitoneal fibrosis, is related to igg4-related disease and ureteral obstruction. The drugs Prednisone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and liver, and related phenotypes are fatigue and abdominal pain

More information from OMIM: 228800

Related Diseases for Fibrosclerosis, Multifocal

Diseases related to Fibrosclerosis, Multifocal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 igg4-related disease 12.1
2 ureteral obstruction 10.6
3 urinary tract obstruction 10.5
4 acute kidney failure 10.4
5 back pain 10.4
6 autoimmune disease 10.3
7 thyroiditis 10.3
8 autoimmune pancreatitis 10.3
9 duodenal obstruction 10.3
10 vasculitis 10.2
11 portal hypertension 10.2
12 obstructive jaundice 10.2
13 aortic aneurysm 10.2
14 uremia 10.2
15 pancreatitis 10.2
16 liver cirrhosis 10.2
17 kidney disease 10.2
18 connective tissue disease 10.2
19 end stage renal failure 10.2
20 cholangitis 10.2
21 hydronephrosis 10.2
22 retroperitoneal fibrosis 10.2
23 dacryoadenitis 10.2
24 igg4-related kidney disease 10.2
25 spondyloarthropathy 1 10.1
26 thrombophilia due to thrombin defect 10.1
27 aortic atherosclerosis 10.1
28 inflammatory spondylopathy 10.1
29 primary biliary cirrhosis 10.1
30 uveitis 10.1
31 sclerosing cholangitis 10.1
32 glomerulonephritis 10.1
33 spondylitis 10.1
34 collagen disease 10.1
35 diabetes insipidus 10.1
36 systemic autoimmune disease 10.1
37 fibrosis of extraocular muscles, congenital, 1 10.1
38 aortic aneurysm, familial abdominal, 1 10.0
39 atherosclerosis susceptibility 10.0
40 pancreatic cancer 10.0
41 lymphoma 10.0
42 thrombosis 10.0
43 obstructive nephropathy 10.0
44 vascular disease 10.0
45 pericarditis 10.0
46 intermittent claudication 10.0
47 aortitis 10.0
48 pseudosarcomatous fibromatosis 10.0
49 mediastinitis 10.0
50 iridocyclitis 10.0

Graphical network of the top 20 diseases related to Fibrosclerosis, Multifocal:



Diseases related to Fibrosclerosis, Multifocal

Symptoms & Phenotypes for Fibrosclerosis, Multifocal

Human phenotypes related to Fibrosclerosis, Multifocal:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
2 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
3 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
4 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
5 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
6 elevated serum creatinine 58 31 frequent (33%) Frequent (79-30%) HP:0003259
7 elevated c-reactive protein level 58 31 frequent (33%) Frequent (79-30%) HP:0011227
8 elevated erythrocyte sedimentation rate 58 31 frequent (33%) Frequent (79-30%) HP:0003565
9 normocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001897
10 increased blood urea nitrogen 58 31 frequent (33%) Frequent (79-30%) HP:0003138
11 unilateral renal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012583
12 large vessel vasculitis 58 31 frequent (33%) Frequent (79-30%) HP:0005310
13 low back pain 58 31 frequent (33%) Frequent (79-30%) HP:0003419
14 anti-thyroid peroxidase antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0025379
15 flank pain 58 31 frequent (33%) Frequent (79-30%) HP:0030157
16 deep dermal perivascular inflammatory infiltrate 58 31 frequent (33%) Frequent (79-30%) HP:0031191
17 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
18 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
19 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
20 psoriasiform dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003765
21 hashimoto thyroiditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000872
22 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
23 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
24 systemic lupus erythematosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002725
25 rheumatoid arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001370
26 antineutrophil antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003453
27 smooth muscle antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003262
28 rheumatoid factor positive 58 31 occasional (7.5%) Occasional (29-5%) HP:0002923
29 membranous nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012578
30 pedal edema 31 occasional (7.5%) HP:0010741
31 hematuria 58 31 very rare (1%) Very rare (<4-1%) HP:0000790
32 nephrotic syndrome 58 31 very rare (1%) Very rare (<4-1%) HP:0000100
33 renovascular hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0100817
34 varicocele 58 31 very rare (1%) Very rare (<4-1%) HP:0012871
35 impotence 58 31 very rare (1%) Very rare (<4-1%) HP:0000802
36 dysuria 58 31 very rare (1%) Very rare (<4-1%) HP:0100518
37 hydrocele testis 58 31 very rare (1%) Very rare (<4-1%) HP:0000034
38 retrograde ejaculation 58 31 very rare (1%) Very rare (<4-1%) HP:0012877
39 budd-chiari syndrome 58 31 very rare (1%) Very rare (<4-1%) HP:0002639
40 acute tubular necrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0008682
41 hypertension 58 Frequent (79-30%)
42 renal insufficiency 58 Frequent (79-30%)
43 abnormality of the thorax 31 HP:0000765
44 thyroiditis 31 HP:0100646
45 pain 58 Very frequent (99-80%)
46 abnormality of the neck 31 HP:0000464
47 camptodactyly of finger 31 HP:0100490
48 abnormality of the liver 31 HP:0001392
49 edema of the lower limbs 58 Occasional (29-5%)
50 sclerosing cholangitis 31 HP:0030991

Symptoms via clinical synopsis from OMIM:

56
Skel:
camptodactyly
finger contractures
seronegative spondylarthropathy

Abdomen:
retroperitoneal fibrosis

Neck:
riedel sclerosing thyroiditis

Liver:
sclerosing cholangitis

Thorax:
mediastinal fibrosis

H E E N T:
pseudotumor of orbit

Clinical features from OMIM:

228800

Drugs & Therapeutics for Fibrosclerosis, Multifocal

Drugs for Fibrosclerosis, Multifocal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Atorvastatin Approved Phase 4 134523-00-5 60823
9
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Immunosuppressive Agents Phase 4
12 Antimetabolites Phase 4
13 glucocorticoids Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Methylprednisolone Acetate Phase 4
16 Liver Extracts Phase 4
17 Hypolipidemic Agents Phase 4
18 Anticholesteremic Agents Phase 4
19 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
20 Lipid Regulating Agents Phase 4
21 Neurotransmitter Agents Phase 4
22 Autonomic Agents Phase 4
23 Anti-Arrhythmia Agents Phase 4
24 Adrenergic Antagonists Phase 4
25 Adrenergic beta-Antagonists Phase 4
26 Sodium Channel Blockers Phase 4
27 Diuretics, Potassium Sparing Phase 4
28 Sympatholytics Phase 4
29 Adrenergic Agents Phase 4
30
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
31
leucovorin Approved Phase 3 58-05-9 6006 143
32
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
33
tannic acid Approved Phase 2, Phase 3 1401-55-4
34
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
35
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
36
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
38 Folic Acid Antagonists Phase 3
39 Vitamin B Complex Phase 3
40 Vitamin B9 Phase 3
41 Dermatologic Agents Phase 3
42 Folate Phase 3
43 Anti-Infective Agents Phase 2, Phase 3
44 Antibiotics, Antitubercular Phase 2, Phase 3
45 Antifungal Agents Phase 2, Phase 3
46 Anti-Bacterial Agents Phase 2, Phase 3
47
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
48
Tamoxifen Approved Phase 2 10540-29-1 2733526
49
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
50 Antirheumatic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 16)
# 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 "Comparative Evaluation Of The Efficacy Of Atorvastatin Gel As An Adjunct To Allografts In The Treatment Of Intrabony Defects" - A Clinico Radiological Study Completed NCT03009097 Phase 4 DFDBA with atorvastatin
3 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
4 Medical Therapy in Idiopathic Retroperitoneal Fibrosis: a Multicenter, Randomized, Controlled Trial of Prednisone vs Low-dose Prednisone Plus Methotrexate Unknown status NCT01240850 Phase 3 Methotrexate+Prednisone;Prednisone
5 Prospective Study of Prednisone Versus Sirolimus in the Treatment of Idiopathic Retroperitoneal Fibrosis Recruiting NCT04047576 Phase 2, Phase 3 Sirolimus;Corticosteroid
6 A Randomised Trial of Prednisone and Tamoxifen in Patients With Idiopathic Retroperitoneal Fibrosis Unknown status NCT00440349 Phase 2 Tamoxifen;Prednisone
7 Rituximab (RTX) for IgG4-related Disease (IgG4-RD): a Prospective,Open-label Trial Completed NCT01584388 Phase 1, Phase 2 Rituximab
8 Phase II Study of Hormone Therapy With Tamoxifen in Patients With Well Differentiated Neuroendocrine Tumors and Hormone Receptor Positive Expression Recruiting NCT03870399 Phase 2 Tamoxifen
9 Treatment of IgG4-Related Disease With Revlimid and Rituximab: The TIGR2 Trial Completed NCT02705638 Phase 1 Rituximab;Lenalidomide
10 A National, Multicenter Study on Fibrotic Valvular Heart Disease in Patients With Parkinson´s Disease Treated With Dopamine Agonists Unknown status NCT00196898
11 The Association Between Dopamine Agonists and Cardiac Valvulopathy, Fibrosis and Other Cardiopulmonary Events Completed NCT01052948
12 Laparoscopic Revision Gastric Bypass Surgery for Perforated Marginal Ulcer: A 10 Year Experience Completed NCT01041196
13 Laparoscopic Revision Gastric Bypass Surgery for Chronic Marginal Ulcers: a 10 Year Experience Completed NCT01041079
14 Aortitis and Retroperitoneal Fibrosis: Evaluation of Diagnostic Criteria Recruiting NCT03133949
15 Characterizing IgG4-related Disease With 68Ga-FAPI PET/CT Not yet recruiting NCT04125511 Early Phase 1 68Ga-FAPI
16 Mode of Drainage Of Bilaterally Obstructed Kidneys Due to Benign or Malignant Causes: A Prospective Comparative Study Not yet recruiting NCT04077008

Search NIH Clinical Center for Fibrosclerosis, Multifocal

Genetic Tests for Fibrosclerosis, Multifocal

Anatomical Context for Fibrosclerosis, Multifocal

MalaCards organs/tissues related to Fibrosclerosis, Multifocal:

40
Kidney, Thyroid, Liver, Heart, B Cells, Bone, Smooth Muscle

Publications for Fibrosclerosis, Multifocal

Articles related to Fibrosclerosis, Multifocal:

(show top 50) (show all 619)
# Title Authors PMID Year
1
Idiopathic retroperitoneal fibrosis: a systemic connective tissue disease? 61 56
156797 1979
2
Retroperitoneal fibrosis in three siblings with the sickle cell trait. 56
4699274 1973
3
Familial multifocal fibrosclerosis. Findings suggesting that retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel's thyroiditis, and pseudotumor of the orbit may be different manifestations of a single disease. 56
6025229 1967
4
An atypical manifestation of idiopathic retroperitoneal fibrosis: A case report. 61
32020838 2020
5
Transduodenal EUS FNA Diagnosis of Idiopathic Retroperitoneal Fibrosis. 61
31826064 2019
6
Idiopathic Retroperitoneal Fibrosis: Long-term Risk and Predictors of Relapse. 61
31204195 2019
7
Concomitant presentation of IgG4-negative idiopathic retroperitoneal fibrosis and Addison's disease. 61
31611225 2019
8
Risk factors for relapse and long-term outcome of idiopathic retroperitoneal fibrosis. 61
31230189 2019
9
Immunoglobulin G4-Related Aortitis of the Abdominal Aorta. 61
31403030 2019
10
[A Case of Malignant Lymphoma with an Elevated Serum IgG4]. 61
31501400 2019
11
Management of Idiopathic Retroperitoneal Fibrosis, a Retrospective Study at Prince Hussein Urology and Organ transplantation center (PHUO), Jordan. 61
31422391 2019
12
IgG4-related disease in patients with newly diagnosed idiopathic retroperitoneal fibrosis: a population-based Danish study. 61
30931680 2019
13
Long-term outcomes and predictors of a large cohort of idiopathic retroperitoneal fibrosis patients: a retrospective study. 61
30270709 2019
14
Persistent FDG/PET CT uptake in idiopathic retroperitoneal fibrosis helps identifying patients at a higher risk for relapse. 61
30711361 2019
15
Standardized approach to idiopathic retroperitoneal fibrosis: a comprehensive review of the literature. 61
31035909 2019
16
Pediatric idiopathic retroperitoneal fibrosis. 61
30740191 2019
17
Idiopathic Retroperitoneal Fibrosis Presenting as Low Back Pain. 61
31019853 2019
18
Retroperitoneal fibrosis associated with orbital pseudotumor without evidence of IgG4: A case report with review of literature. 61
30881855 2019
19
Clinical and Prognostic Significance of Serum IgG4 in Chronic Periaortitis. An Analysis of 113 Patients. 61
31019511 2019
20
Bilateral laparoscopic ureterolysis using hydrodissection in retroperitoneal fibrosis: a new application of an old technique. 61
31119118 2019
21
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis. 61
30081155 2018
22
Idiopathic retroperitoneal fibrosis presenting as spastic paraparesis. 61
30233024 2018
23
Idiopathic retroperitoneal fibrosis: a cross-sectional study of 142 Chinese patients. 61
29219671 2018
24
No specific imaging pattern can help differentiate IgG4-related disease from idiopathic retroperitoneal fibrosis: 18 histologically proven cases. 61
29465374 2018
25
Association of a polymorphism of the Fcγ-receptor 2A (FCGR2A) gene with chronic periaortitis. 61
30299252 2018
26
The value of 18F-FDG PET/CT in the distinction between retroperitoneal fibrosis and its malignant mimics. 61
28958769 2018
27
[18F]-Fluorodeoxyglucose Positron Emission Tomography and Response to Therapy in Idiopathic Retroperitoneal Fibrosis. 61
29033102 2018
28
Low-Back Pain Due to Idiopathic Retroperitoneal Fibrosis. 61
29102100 2018
29
Clinical characteristics and outcomes of 61 patients with chronic periaortitis including IgG4-related and non-IgG4-related cases. 61
29105322 2017
30
[Clinical Evaluation of Diagnostic and Treatment Protocol of Idiopathic Retroperitoneal Fibrosis Incorporating Consideration of Possible IgG4-Related Disease]. 61
29232794 2017
31
Correction: Idiopathic Retroperitoneal Fibrosis With Myofascial Pain Syndrome: A Case Report. 61
29201835 2017
32
Idiopathic retroperitoneal fibrosis: clinical features and long-term renal function outcome. 61
28501912 2017
33
Jaccoud's arthropathy, an unusual manifestation of idiopathic retroperitoneal fibrosis: rapid improvement of symptoms after tocilizumab treatment. 61
28776364 2017
34
Idiopathic Mediastinal Fibrosis: a Systemic Immune-Mediated Disorder. A Case Series and a Review of the Literature. 61
27553003 2017
35
Extrinsic compression of the biliary tract due to idiopathic retroperitoneal fibrosis: MR imaging findings. 61
27986422 2017
36
Elevated serum IgG4 levels in diagnosis and treatment response in patients with idiopathic retroperitoneal fibrosis. 61
28105551 2017
37
Idiopathic retroperitoneal fibrosis and its overlap with IgG4-related disease. 61
28070877 2017
38
Erratum: Idiopathic retroperitoneal fibrosis causing unilateral ureteral and sigmoid colon obstruction: a case report: Erratum. 61
31305641 2017
39
Idiopathic retroperitoneal fibrosis causing unilateral ureteral and sigmoid colon obstruction: A case report. 61
28207528 2017
40
Coronary Artery Manifestation of Ormond Disease: The "Mistletoe Sign". 61
27548369 2017
41
Pathologically Proven Spontaneous Remission of IgG4-related Retroperitoneal Fibrosis. 61
28717084 2017
42
[Retroperitoneal fibrosis: about 12 cases]. 61
29610632 2017
43
IgG4-related retroperitoneal fibrosis: a newly characterized disease. 61
27125330 2016
44
Presentation of idiopathic retroperitoneal fibrosis at a young age: A rare case report. 61
27904827 2016
45
[The Ormond's disease: an intriguing obstructive nephrouropathy]. 61
28134406 2016
46
A Case of Idiopathic Retroperitoneal Fibrosis Associated With Sjögren's Syndrome. 61
27753592 2016
47
Diagnosis and follow-up of idiopathic retroperitoneal fibrosis: role of (18)F-FDG-PET/CT and biochemical parameters in patients with renal involvement. 61
26970988 2016
48
Treatment of Ormond Disease and Idiopathic Membranous Glomerulonephritis by using Rituximab. 61
27721233 2016
49
(18)F-FDG PET/MRI evaluation of retroperitoneal fibrosis: a simultaneous multiparametric approach for diagnosing active disease. 61
26969347 2016
50
Laparoscopic right hemicolectomy for a patient with idiopathic retroperitoneal fibrosis: A case report. 61
27245370 2016

Variations for Fibrosclerosis, Multifocal

Expression for Fibrosclerosis, Multifocal

Search GEO for disease gene expression data for Fibrosclerosis, Multifocal.

Pathways for Fibrosclerosis, Multifocal

GO Terms for Fibrosclerosis, Multifocal

Sources for Fibrosclerosis, Multifocal

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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