MCID: CLD007
MIFTS: 50

Cold Agglutinin Disease

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Cold Agglutinin Disease

MalaCards integrated aliases for Cold Agglutinin Disease:

Name: Cold Agglutinin Disease 49 55
Chronic Cold Agglutinin Disease 55 69
Cad 49 55
Anemia, Hemolytic, Cold Antibody 49
Cold Antibody Hemolytic Anemia 49
Cold Hemagglutinin Disease 69
Cold Agglutinin Syndrome 55
Cold Antibody Disease 49
Cas 55

Characteristics:

Orphanet epidemiological data:

55
cold agglutinin disease
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: elderly;

Classifications:



Summaries for Cold Agglutinin Disease

NIH Rare Diseases : 49 Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32º to 50º F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). This eventually causes red blood cells to be prematurely destroyed (hemolysis) leading to anemia and other associated signs and symptoms. Cold agglutinin disease can be primary (unknown cause) or secondary, due to an underlying condition such as an infection, another autoimmune disease, or certain cancers. Treatment depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. Last updated: 5/26/2016

MalaCards based summary : Cold Agglutinin Disease, also known as chronic cold agglutinin disease, is related to pneumonia and temporal arteritis, and has symptoms including pallor, muscle weakness and splenomegaly. An important gene associated with Cold Agglutinin Disease is CRP (C-Reactive Protein), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Agglutinins and Cold agglutinins have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone marrow and bone.

Wikipedia : 72 Cold agglutinin disease is an autoimmune disease characterized by the presence of high concentrations of... more...

Related Diseases for Cold Agglutinin Disease

Diseases related to Cold Agglutinin Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 pneumonia 29.7 CRP IL6
2 temporal arteritis 29.6 CRP IL6
3 scott syndrome 11.3
4 gastric cancer 11.3
5 pancreatic cancer 11.3
6 autosomal recessive palmoplantar keratoderma and congenital alopecia 11.2
7 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
8 childhood apraxia of speech 11.2
9 esophageal cancer 11.2
10 warm antibody hemolytic anemia 11.1
11 lymphoma 10.4
12 cryoglobulinemia 10.2
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
14 b-cell lymphomas 10.1
15 leukemia 10.1
16 leukemia, chronic lymphocytic 2 10.0
17 leukemia, chronic lymphocytic 10.0
18 diffuse large b-cell lymphoma 10.0
19 hemolytic anemia 10.0
20 leukemia, b-cell, chronic 10.0
21 aneurysm 10.0
22 diabetic foot ulcers 10.0 CRP IL6
23 cryopyrin-associated periodic syndrome 10.0 CRP IL6
24 neutrophilia, hereditary 10.0 CRP IL6
25 acute cholangitis 10.0 CRP IL6
26 cardiogenic shock 10.0 CRP IL6
27 uremic pruritus 10.0 CRP IL6
28 spinal disease 10.0 CRP IL6
29 castleman disease 10.0 CRP IL6
30 angina pectoris 10.0 CRP IL6
31 viral pneumonia 10.0 CRP IL6
32 cecal disease 10.0 CRP IL6
33 relapsing polychondritis 10.0 CRP IL6
34 central nervous system vasculitis 10.0 CRP IL6
35 subacute thyroiditis 10.0 CRP IL6
36 intussusception 10.0 CRP IL6
37 louse-borne relapsing fever 10.0 CRP IL6
38 hypersensitivity reaction type iii disease 10.0 CRP IL6
39 multicentric castleman disease 10.0 CRP IL6
40 ischemic heart disease 10.0 CRP IL6
41 mesenteric lymphadenitis 10.0 CRP IL6
42 systolic heart failure 10.0 CRP IL6
43 intermittent explosive disorder 10.0 CRP IL6
44 intermediate coronary syndrome 10.0 CRP IL6
45 prediabetes syndrome 10.0 CRP IL6
46 acute cystitis 10.0 CRP IL6
47 polyarteritis nodosa 10.0 CRP IL6
48 acute pyelonephritis 10.0 CRP IL6
49 anemia, autoimmune hemolytic 10.0
50 thrombocytopenia 10.0

Graphical network of the top 20 diseases related to Cold Agglutinin Disease:



Diseases related to Cold Agglutinin Disease

Symptoms & Phenotypes for Cold Agglutinin Disease

Human phenotypes related to Cold Agglutinin Disease:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pallor 55 31 hallmark (90%) Very frequent (99-80%) HP:0000980
2 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hemolytic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001878
5 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
6 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
7 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
8 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
9 lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002716
10 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
11 autoimmunity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002960
12 back pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0003418
13 abnormal urinary color 55 31 occasional (7.5%) Occasional (29-5%) HP:0012086
14 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378

Drugs & Therapeutics for Cold Agglutinin Disease

Drugs for Cold Agglutinin Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Agglutinins Phase 3,Phase 2
2 Cold agglutinins Phase 3,Phase 2
3 Hemagglutinins Phase 3,Phase 2
4
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
8
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
9 Acyclovir Phase 2
10 Alkylating Agents Phase 2
11 glucocorticoids Phase 2
12 Complement System Proteins Phase 2,Phase 1
13 Hormone Antagonists Phase 2
14 Hormones Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
16 Antibodies, Monoclonal Phase 2
17 Anti-Infective Agents Phase 2
18 Immunoglobulins Phase 2
19 Immunosuppressive Agents Phase 2
20 Antimetabolites Phase 2
21 Anti-Inflammatory Agents Phase 2
22 Antimetabolites, Antineoplastic Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24 Antibodies Phase 2
25 Bendamustine Hydrochloride Phase 2
26 Antirheumatic Agents Phase 2
27 Antiviral Agents Phase 2
28 Complement Inactivating Agents Phase 2
29 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Assess the Efficacy and Safety of BIVV009 in Participants With Primary Cold Agglutinin Disease Who Have a Recent History of Blood Transfusion (Cardinal Study) Recruiting NCT03347396 Phase 3 BIVV009
2 A Study to Assess the Efficacy and Safety of BIVV009 in Participants With Primary Cold Agglutinin Disease Without A Recent History of Blood Transfusion (Cadenza Study) Recruiting NCT03347422 Phase 3 BIVV009;Placebo
3 Therapy of Chronic Cold Agglutinin Disease With Eculizumab Completed NCT01303952 Phase 2 Eculizumab
4 Bendamustine and Rituximab Combination Therapy for Cold Agglutinin Disease Completed NCT02689986 Phase 2 Bendamustine, Rituximab
5 Therapy for Chronic Cold Agglutinin Disease Completed NCT00373594 Phase 2 Rituximab;Fludarabine
6 Short Course of Bortezomib in Anemic Patients With Refractory Cold Agglutinin Disease Completed NCT01696474 Phase 2 Bortezomib
7 A Single-Arm Pilot Study With Low-Dose Rituximab Plus Standard Oral Prednisone In Idiopathic Autoimmune Hemolytic Anemia Completed NCT01345708 Phase 2 prednisone, low dose rituximab
8 Study to Assess the Safety, Tolerability, Efficacy and PK of APL-2 in Patients With wAIHA or CAD Recruiting NCT03226678 Phase 2 APL-2
9 Safety, Tolerability and Activity of TNT009 in Healthy Volunteers and Patients With Complement Mediated Disorders Recruiting NCT02502903 Phase 1 TNT009
10 The RITAI Cohort: An Observational Study on Rituximab Off-label Use for Auto-immune Disorders Completed NCT00960713 Rituximab (MABTHERA® or RITUXAN®).

Search NIH Clinical Center for Cold Agglutinin Disease

Genetic Tests for Cold Agglutinin Disease

Anatomical Context for Cold Agglutinin Disease

MalaCards organs/tissues related to Cold Agglutinin Disease:

38
B Cells, Bone Marrow, Bone, T Cells, Neutrophil, Skin, Heart

Publications for Cold Agglutinin Disease

Articles related to Cold Agglutinin Disease:

(show top 50) (show all 169)
# Title Authors Year
1
Recurrent Viral Infections Complicated with Cold Agglutinin Disease after Splenectomy for Thrombocytopenia. ( 29336379 )
2018
2
How I manage patients with cold agglutinin disease. ( 29363757 )
2018
3
Cold Agglutinin Disease in a Patient of Pulmonary Tuberculosis. ( 28969736 )
2017
4
Autologous peripheral blood stem cell harvest and transplant in a patient with cold agglutinin disease secondary to lymphoma. ( 28168861 )
2017
5
Cold agglutinin disease presenting as livedo racemosa. ( 28584043 )
2017
6
Neutrophil aggregation on the peripheral blood smear in a patient with cold agglutinin disease. ( 28752395 )
2017
7
Cold agglutinin disease complicated by acrocyanosis and necrosis. ( 28050677 )
2017
8
Neutrophil aggregation on the peripheral blood smear in a patient with cold agglutinin disease. ( 28303305 )
2017
9
Splenic marginal zone lymphoma complicated by cold agglutinin disease. ( 28321090 )
2017
10
Cold agglutinin disease burden: a longitudinal analysis of anemia, medications, transfusions, and health care utilization. ( 29296728 )
2017
11
Bendamustine plus rituximab for chronic cold agglutinin disease: results of a Nordic prospective multicenter trial. ( 28533306 )
2017
12
Hot therapy for cold agglutinin disease. ( 28751358 )
2017
13
Cold agglutinin disease: an unusual cause of shock in the ICU. ( 28116450 )
2017
14
Prophylactic use of eculizumab during surgery in chronic cold agglutinin disease. ( 28487302 )
2017
15
Frequent somatic mutations of KMT2D (MLL2) and CARD11 genes in primary cold agglutinin disease. ( 29265349 )
2017
16
Perioperative management of a patient with cold agglutinin disease undergoing segmental hepatectomy. ( 27827519 )
2016
17
Cold agglutinin disease. ( 27913484 )
2016
18
Postoperative Recurrence of Invasive Thymoma with Cold Agglutinin Disease and Autoimmune Hemolytic Anemia. ( 27629968 )
2016
19
Myocarditis suggesting acute myocardial ischemia, without occlusion of the coronary artery, in a patient with antiphospholipid syndrome and systemic vasculitis in the course of cold agglutinin disease. ( 28905016 )
2016
20
Coomb's negative cold agglutinin disease secondary to mycoplasma pneumonia. ( 27728307 )
2016
21
Immunoglobulin heavy and light chain gene features are correlated with primary cold agglutinin disease onset and activity. ( 27198717 )
2016
22
Successful renal transplantation in a patient with cold agglutinin disease. ( 27011103 )
2016
23
Cold Agglutinin Disease; A Laboratory Challenge. ( 26566452 )
2015
24
Aortic arch aneurysm in a patient with cold agglutinin disease. ( 25655279 )
2015
25
Eculizumab as a bridge to immunosuppressive therapy in severe cold agglutinin disease of anti-Pr specificity. ( 26576277 )
2015
26
Glucocorticoid-Responsive Cold Agglutinin Disease in a Patient with Rheumatoid Arthritis. ( 26346552 )
2015
27
Alleviated anemia by bendamustine in cold agglutinin disease associated with small lymphocytic lymphoma. ( 25765801 )
2015
28
Treatment solution by Miyahara et al.: Treatment of choice for aortic arch aneurysm in a patient with cold agglutinin disease. ( 26097925 )
2015
29
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
30
Cold agglutinin disease in sepsis: A rare entity. ( 26229347 )
2015
31
Long-term response of refractory primary cold agglutinin disease to eculizumab therapy. ( 23722501 )
2014
32
Cold agglutinin disease detected during open heart surgery. ( 24554828 )
2014
33
Cold agglutinin disease-associated digital gangrene treated with plasmapheresis. ( 25382532 )
2014
34
Primary bone marrow diffuse large B-cell lymphoma accompanying cold agglutinin disease: A case report with review of the literature. ( 24348825 )
2014
35
A man with "black fingers". Cold agglutinin disease (CAD). ( 24457440 )
2014
36
Therapy for chronic cold agglutinin disease: perspective for further improvements. ( 23399355 )
2013
37
Cold agglutinin disease. ( 23757733 )
2013
38
Acute exacerbation of cold agglutinin disease during operation. ( 24478842 )
2013
39
Cold agglutinin disease with erythrophagocytosis by neutrophils occurring during recovery phase of chickenpox. ( 24701117 )
2013
40
Acronecrosis with cold agglutinin disease mimics diabetic gangrene. ( 23545690 )
2013
41
Blood clotting at room temperature in cold agglutinin disease. ( 23946942 )
2013
42
Relapsed lymphoma preceded by cold agglutinin disease. ( 22611566 )
2012
43
Successful treatment of IgM-monoclonal gammopathy of undetermined significance associated with cryoglobulinemia and cold agglutinin disease with immunochemotherapy with rituximab, fludarabine, and cyclophosphamide. ( 21901341 )
2012
44
Occurrence of lymphoplasmacytic lymphoma 6 years after amelioration of primary cold agglutinin disease by rituximab therapy. ( 22878940 )
2012
45
Cold agglutinin disease with prolymphocytic leukemia. ( 22833870 )
2012
46
Primary cold agglutinin disease: a case report. ( 23738411 )
2012
47
Plasma exchange and rituximab treatment for lenalidomide-associated cold agglutinin disease. ( 22435421 )
2012
48
Normothermic total arch replacement without hypothermic circulatory arrest to treat aortic distal arch aneurysm in a patient with cold agglutinin disease. ( 21788303 )
2011
49
Primary gastrointestinal diffuse large B cell lymphoma presenting with cold agglutinin disease. ( 21887126 )
2011
50
Cold agglutinin disease in fibrolamellar hepatocellular carcinoma: a rare association with a rare cancer variant. ( 21293066 )
2011

Variations for Cold Agglutinin Disease

Expression for Cold Agglutinin Disease

Search GEO for disease gene expression data for Cold Agglutinin Disease.

Pathways for Cold Agglutinin Disease

GO Terms for Cold Agglutinin Disease

Cellular components related to Cold Agglutinin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 CRP IGHM IL6 MS4A1

Biological processes related to Cold Agglutinin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.37 CRP IL6
2 defense response to Gram-negative bacterium GO:0050829 9.32 IGHM IL6
3 positive regulation of B cell activation GO:0050871 9.26 IGHM IL6
4 humoral immune response GO:0006959 9.16 IL6 MS4A1
5 acute-phase response GO:0006953 8.96 CRP IL6
6 negative regulation of lipid storage GO:0010888 8.62 CRP IL6

Sources for Cold Agglutinin Disease

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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