MCID: CRY004
MIFTS: 49

Cryoglobulinemia

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Cryoglobulinemia

MalaCards integrated aliases for Cryoglobulinemia:

Name: Cryoglobulinemia 12 72 49 51 41 14 69
Cryoimmunoglobulinaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2917
ICD10 32 D89.1
MeSH 41 D003449
NCIt 46 C26736
SNOMED-CT 64 30911005
UMLS 69 C0010403

Summaries for Cryoglobulinemia

NIH Rare Diseases : 49 Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called "cryoglobulins." At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis; joint or muscle pain; purpura; Raynaud's phenomenon; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. Last updated: 5/7/2015

MalaCards based summary : Cryoglobulinemia, also known as cryoimmunoglobulinaemia, is related to cryoglobulinemia, familial mixed and hepatitis c. An important gene associated with Cryoglobulinemia is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PEDF Induced Signaling. The drugs rituximab and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, liver and skin, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.

Wikipedia : 72 Cryoglobulinemia, cryoglobulinaemia, or cryoglobulinemic disease, is a medical condition in which the... more...

Related Diseases for Cryoglobulinemia

Diseases related to Cryoglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 302)
# Related Disease Score Top Affiliating Genes
1 cryoglobulinemia, familial mixed 33.4 CD40LG CD5 IFNA2 TSLP
2 hepatitis c 31.1 CD81 CXCL10 IFNA2
3 endotheliitis 30.6 CXCL10 CXCL11
4 vasculitis 30.6 CD40LG CD79A IFNA2 TNFSF13B
5 cryofibrinogenemia 30.3 CD40LG CD79A
6 myeloma, multiple 30.3 CD40LG CD79A TNFSF13B
7 heavy chain disease 30.1 CD40LG CD79A
8 lymphoplasmacytic lymphoma 29.9 CD40LG CD5
9 subacute bacterial endocarditis 29.9 CD40LG CD79A
10 macroglobulinemia 29.8 CD27 CD40LG TNFSF13B
11 hypersensitivity reaction type iii disease 29.7 CD40LG CD79A
12 mycosis fungoides 29.7 CXCL10 CXCL11 IFNA2
13 pneumocystosis 29.6 CD40LG CD79A
14 lymphoma, mucosa-associated lymphoid type 29.4 CD40LG CD5 CD79A
15 systemic lupus erythematosus 29.4 CD40LG CD79A CR2 CXCL10 TNFSF13B
16 leukemia, chronic lymphocytic 28.6 CD27 CD40LG CD5 CR2 TNFSF13B
17 lymphoma, non-hodgkin, familial 28.6 CD27 CD40LG CD5 CR2 TNFSF13B
18 type ii mixed cryoglobulinemia 12.0
19 mixed cryoglobulinemia type iii 12.0
20 simple cryoglobulinemia 11.9
21 hepatitis c virus 11.4
22 glomerulopathy with fibronectin deposits 2 10.9
23 hepatitis 10.8
24 apple allergy 10.5 CXCL10 CXCL11
25 immunodeficiency with hyper-igm, type 4 10.5 CD40LG TNFSF13B
26 japanese spotted fever 10.5 CD40LG CXCL10
27 ascaris lumbricoides infection 10.4 TNFSF13B TSLP
28 selective igg deficiency disease 10.4 CD40LG CD79A
29 c1q nephropathy 10.4 CD40LG CD79A
30 meningovascular neurosyphilis 10.4 CD40LG CD79A
31 alpha chain disease 10.4 CD40LG CD79A
32 brill-zinsser disease 10.4 CD40LG CD79A
33 exudative glomerulonephritis 10.4 CD40LG CD79A
34 cork-handlers' disease 10.4 CD40LG CD79A
35 salpingo-oophoritis 10.4 CD40LG CD79A
36 early yaws 10.4 CD40LG CD79A
37 ventilation pneumonitis 10.4 CD40LG CD79A
38 chronic interstitial cystitis 10.4 CD40LG CD79A
39 axillary adenitis 10.4 CD40LG CD79A
40 trichostrongyloidiasis 10.4 CD40LG CD79A
41 heterophyiasis 10.4 CD40LG CD79A
42 immunoglobulin g deficiency 10.4 CD40LG CD79A
43 orbital granuloma 10.4 CD40LG CD79A
44 transient hypogammaglobulinemia of infancy 10.4 CD40LG CD79A
45 hyperglobulinemic purpura 10.4 CD40LG CD79A
46 gastroduodenitis 10.4 CD40LG CD79A
47 bacterial conjunctivitis 10.4 CD40LG CD79A
48 ophthalmia neonatorum 10.4 CD40LG CD79A
49 immunoglobulin a deficiency 1 10.4 CD40LG CD79A
50 parotid disease 10.4 CD40LG CD79A

Graphical network of the top 20 diseases related to Cryoglobulinemia:



Diseases related to Cryoglobulinemia

Symptoms & Phenotypes for Cryoglobulinemia

MGI Mouse Phenotypes related to Cryoglobulinemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CD27 CD40LG CD5 CD79A CD81 CR2
2 immune system MP:0005387 9.32 CD27 CD40LG CD5 CD79A CD81 CR2

Drugs & Therapeutics for Cryoglobulinemia

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
2 Antirheumatic Agents Phase 4,Phase 2,Phase 3
3
Ledipasvir Approved Phase 2, Phase 3 1256388-51-8 67505836
4
Sofosbuvir Approved Phase 2, Phase 3 1190307-88-0 45375808
5 Anti-Infective Agents Phase 2, Phase 3,Phase 1
6 Antiviral Agents Phase 2, Phase 3,Phase 1
7 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3
8
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10
Lactitol Investigational Phase 1, Phase 2 585-86-4 3871
11 Analgesics Phase 1, Phase 2
12 Analgesics, Non-Narcotic Phase 1, Phase 2
13 Interleukin-2 Phase 1, Phase 2
14 Peripheral Nervous System Agents Phase 1, Phase 2
15
s 1 (combination) Phase 1, Phase 2
16 Anti-HIV Agents Phase 1, Phase 2
17 Anti-Retroviral Agents Phase 1, Phase 2
18 Antibodies Phase 2
19 Antibodies, Monoclonal Phase 2
20 Immunoglobulins Phase 2
21 Anti-Inflammatory Agents Phase 2
22 Antineoplastic Agents, Hormonal Phase 2
23 glucocorticoids Phase 2
24 Hormone Antagonists Phase 2
25 Hormones Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
27
Ribavirin Approved 36791-04-5 37542
28 Liver Extracts
29 interferons

Interventional clinical trials:

(show all 19)

# Name Status NCT ID Phase Drugs
1 Study of the Influence of Plasma Exchange on the Pharmacokinetics of Rituximab Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
2 Tolerance and Efficacy of Rituximab in Sjogren's Disease Completed NCT00740948 Phase 2, Phase 3 Rituximab (mabthera) Injection;Placebo: NaCl 0.9% or Glucose 5%
3 Efficacy of All-Oral Anti-Viral Therapy for Symptomatic Hepatitis C Virus Infection-Related Cryoglobulinemia Recruiting NCT02825212 Phase 2, Phase 3 Harvoni
4 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2 Interleukin-2
5 Evaluation of Clinical Efficacy and Immunologic Response After IL-2 Therapy in HCV-related Vasculitis Patients Completed NCT00574652 Phase 1, Phase 2 Proleukin
6 Rituximab to Treat Hepatitis C-Associated Cryoglobulinemic Vasculitis Completed NCT00029107 Phase 2 Rituximab
7 Rituximab Plus Corticosteroids in Non-infectious Active Mixed Cryoglobulinemia Vasculitis Active, not recruiting NCT02556866 Phase 2 rituximab;Prednisone;Placebo
8 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021
9 Benefit of DAA Therapy in HCV Monoinfected and HIV-HCV Coinfected Patients With Mixed Cryoglobulinemia Completed NCT03342261 DAA treatment
10 Characterization of Clonal B Cell Populations in HCV Infection Completed NCT00435201
11 The RITAI Cohort: An Observational Study on Rituximab Off-label Use for Auto-immune Disorders Completed NCT00960713 Rituximab (MABTHERA® or RITUXAN®).
12 Hepatitis C Virus and the Humoral Immune System Completed NCT00219999
13 Impact of Vasculitis on Employment and Income Completed NCT02476292
14 Direct Antiviral Agents for Hepatitis C Virus-associated Cryoglobulinaemia Vasculitis Recruiting NCT02856243 new antiviral therapy
15 Long-term Outcomes of Chronic Hepatitis C Patients Post Sofosbuvir-based Treatment Recruiting NCT03042520
16 Journey of Patients With Vasculitis From First Symptom to Diagnosis Recruiting NCT03410290
17 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
18 Vasculitis Pregnancy Registry Recruiting NCT02593565
19 Effects of Direct Antiviral Agents on Hepatitis C Virus Arthropathy Not yet recruiting NCT03226717 Antiviral agents

Search NIH Clinical Center for Cryoglobulinemia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: cryoglobulinemia

Genetic Tests for Cryoglobulinemia

Anatomical Context for Cryoglobulinemia

MalaCards organs/tissues related to Cryoglobulinemia:

38
B Cells, Liver, Skin, Kidney, Thyroid, Bone, Brain

Publications for Cryoglobulinemia

Articles related to Cryoglobulinemia:

(show top 50) (show all 866)
# Title Authors Year
1
Role of ribavirin in the treatment of hepatitis C virus-associated mixed cryoglobulinemia with interferon-free regimens. ( 29318374 )
2018
2
Hepatitis C virus-associated cryoglobulinemia with membrano-proliferative glomerulonephritis treated with prednisolone and interferon: A case report. ( 28810602 )
2017
3
Genetic and clinical data predict onset of cryoglobulinemia in HCV patients and cryoglobulins clearance. ( 29371057 )
2017
4
Systematic review of mixed cryoglobulinemia associated with hepatitis E virus infection: association or causation? ( 28852522 )
2017
5
Efficacy and Safety of Sofosbuvir Plus Daclatasvir for Treatment of HCV-Associated Cryoglobulinemia Vasculitis. ( 28288791 )
2017
6
Peripheral Ulcerative Keratitis Associated with HCV-Related Cryoglobulinemia. ( 28785498 )
2017
7
Corrigendum to: Hepatitis C virus (HCV) infection of peripheral blood mononuclear cells in patients with type II cryoglobulinemia. Hum Immunol. 2013;74(12):1559-62. ( 29173492 )
2017
8
Reversion of anergy signatures in clonal CD21(low) B cells of mixed cryoglobulinemia after clearance of HCV viremia. ( 28507081 )
2017
9
Editorial: Benefit of Direct-Acting Antiviral Therapy For Cryoglobulinemia due to Hepatitis C Infection. ( 28766566 )
2017
10
Pharmacogenetic analysis of hepatitis C virus related mixed cryoglobulinemia. ( 28453396 )
2017
11
Normothermic Cardiopulmonary Bypass in Patient With WaldenstrAPm's Macroglobulinemia and Cryoglobulinemia: A Case Report. ( 28520564 )
2017
12
MPGN and mixed cryoglobulinemia in a patient with hepatitis C - new treatment implications and renal outcomes. ( 29098140 )
2017
13
Decline of cellular activation in non-B cells after rituximab treatment in hepatitis C-associated mixed cryoglobulinemia vasculitis. ( 27666584 )
2017
14
Lymphoproliferative disease with mixed cryoglobulinemia and hyperviscosity syndrome in an HIV-infected patient: HCV is the only culprit. ( 28825444 )
2017
15
Cryoglobulinemia: A Rare Cause of Digital Gangrene After Elective Foot Surgery. ( 28476397 )
2017
16
Direct-Acting Antivirals and Mixed Cryoglobulinemia Vasculitis: Long-Term Outcome of Patients Achieving HCV Eradication. ( 29109502 )
2017
17
Anti-PD-1-related cryoglobulinemia during treatment with nivolumab in NSCLC patient. ( 28383638 )
2017
18
Micro and nanoparticles as possible pathogenetic co-factors in mixed cryoglobulinemia. ( 27694373 )
2017
19
How I treat cryoglobulinemia. ( 27799164 )
2017
20
Cryoglobulinemia in SjAPgren Syndrome: A Disease Subset that Links Higher Systemic Disease Activity, Autoimmunity, and Local B Cell Proliferation in Mucosa-associated Lymphoid Tissue. ( 28507188 )
2017
21
Clinical presentation and outcomes of patients with type 1 monoclonal cryoglobulinemia. ( 28370486 )
2017
22
Mixed Essential Cryoglobulinemia. ( 28473046 )
2017
23
Cryoglobulinemia vasculitis: how to handle. ( 28368978 )
2017
24
Mixed cryoglobulinemia: a diagnostic and therapeutic challenge. ( 28490478 )
2017
25
Thyroid Involvement in Hepatitis C Virus-Infected Patients with/without Mixed Cryoglobulinemia. ( 28736547 )
2017
26
Efficacy of Cryofiltration for Treatment of Mixed Cryoglobulinemia: A Report of Four Cases. ( 28661098 )
2017
27
Recurrent Mixed Cryoglobulinemia Despite Sustained Virologic Response to Treatment: A Case Report. ( 28343737 )
2017
28
Efficacy and Safety of Direct Acting Antivirals for the Treatment of Mixed Cryoglobulinemia. ( 28291241 )
2017
29
MACULAR PERIVENOUS RETINAL WHITENING AND PRESUMED RETINO-CILIARY SPARING IN A RECURRENT CENTRAL RETINAL VEIN OCCLUSION ASSOCIATED WITH THE ANTIPHOSPHOLIPID SYNDROME AND CRYOGLOBULINEMIA. ( 27902540 )
2016
30
Mixed cryoglobulinemia-associated SjAPgren's syndrome leading to spontaneous rupture of the kidney: a case report. ( 27042145 )
2016
31
Digital ischemic necrosis with cryoglobulinemia associated with hepatitis B infection. ( 27857479 )
2016
32
Virologic, Clinical, and Immune Response Outcomes of Patients With Hepatitis C Virus-Associated Cryoglobulinemia Treated With Direct-Acting Antivirals. ( 27725289 )
2016
33
Successful Treatment With Bosentan for Digital Ulcers Related to Mixed Cryoglobulinemia: A Case Report. ( 26785421 )
2016
34
An Unusual Case of HCV Negative Cryoglobulinemia Presenting as Symmetrical Peripheral Gangrene. ( 27190872 )
2016
35
Coronary artery bypass grafting in a patient with active idiopathic cryoglobulinemia: revisiting the issue. ( 26908383 )
2016
36
Improved (4 Plus 2) Rituximab Protocol for Severe Cases of Mixed Cryoglobulinemia: A 6-Year Observational Study. ( 27161362 )
2016
37
Clinical and Morphologic Spectrum of Renal Involvement in Patients with HBV-Associated Cryoglobulinemia. ( 27062412 )
2016
38
A Rare Cause of Unilateral Central Retinal Vein Occlusion in a Young Patient: Type III Mixed Cryoglobulinemia. ( 27418988 )
2016
39
The correlation between antiphospholipid syndrome and cryoglobulinemia: case series of 4 patients and review of the literature. ( 27267327 )
2016
40
Delineation of autoantibody repertoire through differential proteogenomics in hepatitis C virus-induced cryoglobulinemia. ( 27403724 )
2016
41
Cold-associated painful purple digits due to type I cryoglobulinemia. ( 27681488 )
2016
42
Successful ledipasvira88+a88sofosbuvir treatment of active synovitis in a rheumatoid arthritis patient with hepatitis C virus-related mixed cryoglobulinemia. ( 27848256 )
2016
43
Cryoglobulinemia in a patient with chronic lymphocytic leukemia - A case report and review of literature of renal involvement in CLL. ( 27519936 )
2016
44
Purtscher-like Retinopathy as a Rare Presentation of Cryoglobulinemia. ( 27162457 )
2016
45
Vitamin D pathway gene polymorphisms as predictors of hepatitis C virus-related mixed cryoglobulinemia. ( 27139837 )
2016
46
A systemic lupus erythematosus patient presenting as type B insulin resistance complicated with cryoglobulinemia. ( 27416845 )
2016
47
Incidence of thyroid disorders in mixed cryoglobulinemia: Results from a longitudinal follow-up. ( 26970485 )
2016
48
Poster 94 Mononeuritis Multiplex Secondary to HCV Cryoglobulinemia and Rheumatoid Vasculitis: A Case Report. ( 27672862 )
2016
49
HCV-associated cryoglobulinemia vasculitis: are its days numbered? ( 27797754 )
2016
50
Annular leukocytoclastic vasculitis associated with essential mixed cryoglobulinemia. ( 27098553 )
2016

Variations for Cryoglobulinemia

Expression for Cryoglobulinemia

Search GEO for disease gene expression data for Cryoglobulinemia.

Pathways for Cryoglobulinemia

Pathways related to Cryoglobulinemia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 CD27 CD40LG CXCL10 IFNA2 IFNL3 TNFSF13B
2
Show member pathways
12.89 CD27 CD40LG CXCL10 CXCL11 IFNA2 IFNL3
3
Show member pathways
12.54 CD40LG CXCL11 IFNA2 TNFSF13B
4 12.18 CD40LG CD79A CXCL10 TNFSF13B
5
Show member pathways
12.03 IFNA2 IFNL3 TSLP
6 11.67 CD5 CD79A IFNA2
7
Show member pathways
11.41 CD27 CD40LG TNFSF13B
8 11.25 CD40LG CR2 TNFSF13B
9 11.06 CXCL10 CXCL11
10
Show member pathways
10.82 IFNA2 IFNL3
11 10.71 CD40LG CXCL10 CXCL11 TNFSF13B
12 10.69 CD40LG CXCL10 CXCL11 TNFSF13B
13 10.65 CD27 CD40LG CD5 CR2

GO Terms for Cryoglobulinemia

Cellular components related to Cryoglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 CD40LG CXCL10 CXCL11 IFNA2 IFNL3 TNFSF13B
2 extracellular region GO:0005576 9.56 CD27 CD40LG CXCL10 CXCL11 IFNA2 IFNL3
3 external side of plasma membrane GO:0009897 9.02 CD27 CD40LG CD5 CD79A CXCL10

Biological processes related to Cryoglobulinemia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.87 CD81 CXCL10 TNFSF13B TSLP
2 inflammatory response GO:0006954 9.77 CD27 CD40LG CXCL10 CXCL11 IFNA2
3 regulation of immune response GO:0050776 9.76 CD40LG CD81 TNFSF13B
4 response to lipopolysaccharide GO:0032496 9.75 CD27 CXCL10 CXCL11
5 defense response to virus GO:0051607 9.73 CXCL10 IFNA2 IFNL3
6 immune response GO:0006955 9.73 CD27 CD40LG CR2 CXCL10 CXCL11 TNFSF13B
7 cell surface receptor signaling pathway GO:0007166 9.72 CD27 CD79A CD81 CXCL10 IFNA2
8 defense response GO:0006952 9.7 CXCL10 CXCL11 IFNA2
9 tumor necrosis factor-mediated signaling pathway GO:0033209 9.69 CD27 CD40LG TNFSF13B
10 T cell costimulation GO:0031295 9.61 CD40LG CD5 TNFSF13B
11 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.55 CXCL10 CXCL11
12 positive regulation of interleukin-10 production GO:0032733 9.54 CD40LG TSLP
13 positive regulation of cAMP-mediated signaling GO:0043950 9.49 CXCL10 CXCL11
14 positive regulation of cAMP metabolic process GO:0030816 9.48 CXCL10 CXCL11
15 T cell chemotaxis GO:0010818 9.46 CXCL10 CXCL11
16 B cell differentiation GO:0030183 9.46 CD40LG CD79A CR2 IFNA2
17 immunoglobulin secretion GO:0048305 9.4 CD40LG TNFSF13B
18 B cell proliferation GO:0042100 9.26 CD40LG CD79A CR2 IFNA2
19 regulation of receptor activity GO:0010469 9.17 CD40LG CXCL10 CXCL11 IFNA2 IFNL3 TNFSF13B

Molecular functions related to Cryoglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.46 CD27 CD5 CD79A CR2
2 tumor necrosis factor receptor binding GO:0005164 9.26 CD40LG TNFSF13B
3 cytokine activity GO:0005125 9.17 CD40LG CXCL10 CXCL11 IFNA2 IFNL3 TNFSF13B
4 CXCR3 chemokine receptor binding GO:0048248 8.96 CXCL10 CXCL11

Sources for Cryoglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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