MCID: CLD007
MIFTS: 49

Cold Agglutinin Disease

Categories: Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Cold Agglutinin Disease

MalaCards integrated aliases for Cold Agglutinin Disease:

Name: Cold Agglutinin Disease 53 59
Chronic Cold Agglutinin Disease 59 73
Cad 53 59
Anemia, Hemolytic, Cold Antibody 53
Cold Antibody Hemolytic Anemia 53
Cold Hemagglutinin Disease 73
Cold Agglutinin Syndrome 59
Cold Antibody Disease 53
Cas 59

Characteristics:

Orphanet epidemiological data:

59
cold agglutinin disease
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: elderly;

Classifications:



Summaries for Cold Agglutinin Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Cold Agglutinin Disease, also known as chronic cold agglutinin disease, is related to temporal arteritis and pneumonia. 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, and related phenotypes are pallor and muscle weakness

Wikipedia : 76 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 temporal arteritis 29.5 CRP IL6
2 pneumonia 29.5 CRP IL6
3 childhood apraxia of speech 11.6
4 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.6
5 pancreatic cancer 11.3
6 gastric cancer 11.3
7 scott syndrome 11.3
8 esophageal cancer 11.2
9 autosomal recessive palmoplantar keratoderma and congenital alopecia 11.2
10 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
11 warm antibody hemolytic anemia 11.1
12 lymphoma 10.4
13 cryoglobulinemia 10.2
14 waldenstrom macroglobulinemia 10.2 IGHM MS4A1
15 b-cell lymphomas 10.1
16 leukemia 10.1
17 leukemia, chronic lymphocytic 2 10.0
18 leukemia, chronic lymphocytic 10.0
19 diffuse large b-cell lymphoma 10.0
20 hemolytic anemia 10.0
21 leukemia, b-cell, chronic 10.0
22 aneurysm 10.0
23 cryopyrin-associated periodic syndrome 10.0 CRP IL6
24 cardiogenic shock 10.0 CRP IL6
25 acute cholangitis 10.0 CRP IL6
26 neutrophilia, hereditary 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 anemia, autoimmune hemolytic 10.0
37 thrombocytopenia 10.0
38 chickenpox 10.0
39 neuropathy 10.0
40 macroglobulinemia 10.0
41 intussusception 10.0 CRP IL6
42 louse-borne relapsing fever 10.0 CRP IL6
43 multicentric castleman disease 10.0 CRP IL6
44 hypersensitivity reaction type iii disease 10.0 CRP IL6
45 ischemic heart disease 10.0 CRP IL6
46 mesenteric lymphadenitis 9.9 CRP IL6
47 alexithymia 9.9 CRP IL6
48 intermittent explosive disorder 9.9 CRP IL6
49 intermediate coronary syndrome 9.9 CRP IL6
50 acute cystitis 9.9 CRP IL6

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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
2 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
3 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
5 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
6 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
7 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
8 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
9 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
10 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
11 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
12 back pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0003418
13 abnormal urinary color 59 32 occasional (7.5%) Occasional (29-5%) HP:0012086
14 fatigue 59 32 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 30)
# 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
rituximab Approved Phase 2 174722-31-7 10201696
5
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
8
Acyclovir Approved Phase 2 59277-89-3 2022
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
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 Phase 2
17 Immunoglobulins Phase 2
18 Antibodies, Monoclonal Phase 2
19 Immunosuppressive Agents Phase 2
20 Anti-Infective Agents Phase 2
21 Anti-Inflammatory Agents Phase 2
22 Antirheumatic Agents Phase 2
23 Bendamustine Hydrochloride Phase 2
24 Antimetabolites Phase 2
25 Antiviral Agents Phase 2
26 Antimetabolites, Antineoplastic Phase 2
27 Antineoplastic Agents, Alkylating Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29 Complement Inactivating Agents Phase 2
30 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Assess the Efficacy and Safety of BIVV009 (Sutimlimab) in Participants With Primary Cold Agglutinin Disease Who Have a Recent History of Blood Transfusion (Cardinal Study) Recruiting NCT03347396 Phase 3 Sutimlimab
2 A Study to Assess the Efficacy and Safety of BIVV009 (Sutimlimab) in Participants With Primary Cold Agglutinin Disease Without A Recent History of Blood Transfusion (Cadenza Study) Recruiting NCT03347422 Phase 3 Sutimlimab;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:

41
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 174)
# Title Authors Year
1
How I manage patients with cold agglutinin disease. ( 29363757 )
2018
2
Recurrent Viral Infections Complicated with Cold Agglutinin Disease after Splenectomy for Thrombocytopenia. ( 29336379 )
2018
3
A novel method for demonstrating cold agglutinin disease: a case report. ( 29665852 )
2018
4
EBV-related Cold Agglutinin Disease Presenting With Conjugated Hyperbilirubinemia: A Pediatric Case Report and Mini Review. ( 29683945 )
2018
5
A Rare Non-Hemolytic Case of Idiopathic Cold Agglutinin Disease. ( 29945320 )
2018
6
Short course of bortezomib in anemic patients with relapsed cold agglutinin disease. A phase II prospective GIMEMA study. ( 29898955 )
2018
7
Cold agglutinin disease complicating management of aortic dissection. ( 29885944 )
2018
8
Frequent somatic mutations of KMT2D (MLL2) and CARD11 genes in primary cold agglutinin disease. ( 29265349 )
2017
9
Cold agglutinin disease burden: a longitudinal analysis of anemia, medications, transfusions, and health care utilization. ( 29296728 )
2017
10
Cold Agglutinin Disease in a Patient of Pulmonary Tuberculosis. ( 28969736 )
2017
11
Bendamustine plus rituximab for chronic cold agglutinin disease: results of a Nordic prospective multicenter trial. ( 28533306 )
2017
12
Neutrophil aggregation on the peripheral blood smear in a patient with cold agglutinin disease. ( 28303305 )
2017
13
Autologous peripheral blood stem cell harvest and transplant in a patient with cold agglutinin disease secondary to lymphoma. ( 28168861 )
2017
14
Neutrophil aggregation on the peripheral blood smear in a patient with cold agglutinin disease. ( 28752395 )
2017
15
Cold agglutinin disease complicated by acrocyanosis and necrosis. ( 28050677 )
2017
16
Hot therapy for cold agglutinin disease. ( 28751358 )
2017
17
Cold agglutinin disease: an unusual cause of shock in the ICU. ( 28116450 )
2017
18
Cold agglutinin disease presenting as livedo racemosa. ( 28584043 )
2017
19
Prophylactic use of eculizumab during surgery in chronic cold agglutinin disease. ( 28487302 )
2017
20
Splenic marginal zone lymphoma complicated by cold agglutinin disease. ( 28321090 )
2017
21
Immunoglobulin heavy and light chain gene features are correlated with primary cold agglutinin disease onset and activity. ( 27198717 )
2016
22
Postoperative Recurrence of Invasive Thymoma with Cold Agglutinin Disease and Autoimmune Hemolytic Anemia. ( 27629968 )
2016
23
Perioperative management of a patient with cold agglutinin disease undergoing segmental hepatectomy. ( 27827519 )
2016
24
Successful renal transplantation in a patient with cold agglutinin disease. ( 27011103 )
2016
25
Cold agglutinin disease. ( 27913484 )
2016
26
Coomb's negative cold agglutinin disease secondary to mycoplasma pneumonia. ( 27728307 )
2016
27
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
28
Alleviated anemia by bendamustine in cold agglutinin disease associated with small lymphocytic lymphoma. ( 25765801 )
2015
29
Eculizumab as a bridge to immunosuppressive therapy in severe cold agglutinin disease of anti-Pr specificity. ( 26576277 )
2015
30
Aortic arch aneurysm in a patient with cold agglutinin disease. ( 25655279 )
2015
31
Glucocorticoid-Responsive Cold Agglutinin Disease in a Patient with Rheumatoid Arthritis. ( 26346552 )
2015
32
Cold agglutinin disease in sepsis: A rare entity. ( 26229347 )
2015
33
Cold Agglutinin Disease; A Laboratory Challenge. ( 26566452 )
2015
34
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
35
Treatment solution by Miyahara et al.: Treatment of choice for aortic arch aneurysm in a patient with cold agglutinin disease. ( 26097925 )
2015
36
Long-term response of refractory primary cold agglutinin disease to eculizumab therapy. ( 23722501 )
2014
37
A man with "black fingers". Cold agglutinin disease (CAD). ( 24457440 )
2014
38
Cold agglutinin disease detected during open heart surgery. ( 24554828 )
2014
39
Cold agglutinin disease-associated digital gangrene treated with plasmapheresis. ( 25382532 )
2014
40
Primary bone marrow diffuse large B-cell lymphoma accompanying cold agglutinin disease: A case report with review of the literature. ( 24348825 )
2014
41
Cold agglutinin disease with erythrophagocytosis by neutrophils occurring during recovery phase of chickenpox. ( 24701117 )
2013
42
Cold agglutinin disease. ( 23757733 )
2013
43
Acronecrosis with cold agglutinin disease mimics diabetic gangrene. ( 23545690 )
2013
44
Therapy for chronic cold agglutinin disease: perspective for further improvements. ( 23399355 )
2013
45
Blood clotting at room temperature in cold agglutinin disease. ( 23946942 )
2013
46
Acute exacerbation of cold agglutinin disease during operation. ( 24478842 )
2013
47
Cold agglutinin disease with prolymphocytic leukemia. ( 22833870 )
2012
48
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
49
Occurrence of lymphoplasmacytic lymphoma 6 years after amelioration of primary cold agglutinin disease by rituximab therapy. ( 22878940 )
2012
50
Relapsed lymphoma preceded by cold agglutinin disease. ( 22611566 )
2012

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 complement activation, classical pathway GO:0006958 9.4 CRP IGHM
2 defense response to Gram-positive bacterium GO:0050830 9.37 CRP IL6
3 defense response to Gram-negative bacterium GO:0050829 9.32 IGHM IL6
4 positive regulation of B cell activation GO:0050871 9.26 IGHM IL6
5 humoral immune response GO:0006959 9.16 IL6 MS4A1
6 acute-phase response GO:0006953 8.96 CRP IL6
7 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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