MCID: CLD007
MIFTS: 46

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 50 56
Chronic Cold Agglutinin Disease 56 69
Cad 50 56
Anemia, Hemolytic, Cold Antibody 50
Cold Antibody Hemolytic Anemia 50
Cold Hemagglutinin Disease 69
Cold Agglutinin Syndrome 56
Cold Antibody Disease 50
Cas 56

Characteristics:

Orphanet epidemiological data:

56
cold agglutinin disease
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: elderly;

Classifications:



Summaries for Cold Agglutinin Disease

NIH Rare Diseases : 50 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 cryoglobulinemia and pulmonary embolism, 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 Fludarabine and rituximab 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 156)
id Related Disease Score Top Affiliating Genes
1 cryoglobulinemia 29.9 CRP IL6
2 pulmonary embolism 29.4 CRP IL6
3 scott syndrome 11.2
4 pancreatic cancer 11.2
5 stomach cancer 11.1
6 autosomal recessive palmoplantar keratoderma and congenital alopecia 11.1
7 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.1
8 childhood apraxia of speech 11.1
9 esophageal cancer 11.1
10 warm antibody hemolytic anemia 11.0
11 lymphoma 10.3
12 crystal arthropathies 10.0 CRP IL6
13 shoulder impingement syndrome 10.0 CRP IL6
14 brachydactyly-distal symphalangism syndrome 10.0 CRP IL6
15 b-cell lymphomas 10.0
16 leukemia 10.0
17 epstein-barr virus hepatitis 10.0 CRP IL6
18 x-linked dominant intellectual disability-epilepsy syndrome 10.0 CRP IL6
19 erythema elevatum diutinum 10.0 CRP IL6
20 cataract congenital autosomal dominant 10.0 CRP IL6
21 chronic diarrhea due to guanylate cyclase 2c overactivity 10.0 CRP IL6
22 malignant gastric granular cell tumor 10.0 CRP IL6
23 nodular nonsuppurative panniculitis 10.0 CRP IL6
24 hemangioma of spleen 10.0 CRP IL6
25 central nervous system leiomyosarcoma 10.0 CRP IL6
26 lung occult large cell carcinoma 10.0 CRP IL6
27 cicatricial lagophthalmos 10.0 CRP IL6
28 ariboflavinosis 10.0 CRP IL6
29 multiple congenital anomalies mental retardation, growth failure and cleft lip palate 10.0 CRP IL6
30 islet cell tumor 10.0 CRP IL6
31 queensland tick typhus 10.0 CRP IL6
32 placental abruption 10.0 CRP IL6
33 luxation of globe 10.0 CRP IL6
34 parasitic helminthiasis infectious disease 10.0 CRP IL6
35 allergic bronchopulmonary aspergillosis 10.0 CRP IL6
36 benign neonatal seizures 10.0 CRP IL6
37 hyperlipoproteinemia type iv 10.0 CRP IL6
38 partial central choroid dystrophy 10.0 CRP IL6
39 breast papillary carcinoma 10.0 CRP IL6
40 myeloid sarcoma 10.0 CRP IL6
41 pneumoconiosis 10.0 CRP IL6
42 early congenital syphilis 10.0 CRP IL6
43 plummer's disease 10.0 CRP IL6
44 residual stage corticosteroid-induced glaucoma 10.0 CRP IL6
45 c1 inhibitor deficiency 10.0 CRP IL6
46 breast disease 10.0 CRP IL6
47 bardet-biedl syndrome 8 10.0 CRP IL6
48 brain glioblastoma multiforme 10.0 CRP IL6
49 focal dystonia 10.0 CRP IL6
50 ischemic heart disease 10.0 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:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pallor 56 32 hallmark (90%) Very frequent (99-80%) HP:0000980
2 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
3 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hemolytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001878
5 diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002014
6 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
7 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
8 headache 56 32 occasional (7.5%) Occasional (29-5%) HP:0002315
9 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
10 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
11 autoimmunity 56 32 hallmark (90%) Very frequent (99-80%) HP:0002960
12 back pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0003418
13 abnormal urinary color 56 32 occasional (7.5%) Occasional (29-5%) HP:0012086
14 fatigue 56 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 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
rituximab Approved Phase 2 174722-31-7 10201696
3
Vidarabine Approved Phase 2 24356-66-9 32326 21704
4
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
5
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
6 Agglutinins Phase 2
7 Cold agglutinins Phase 2
8 Complement System Proteins Phase 2,Phase 1
9 Hemagglutinins Phase 2
10 Antibodies Phase 2
11 Antibodies, Monoclonal Phase 2
12 Anti-Infective Agents Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Antirheumatic Agents Phase 2
16 Antiviral Agents Phase 2
17 Immunoglobulins Phase 2
18 Immunosuppressive Agents Phase 2
19 Alkylating Agents Phase 2
20 Bendamustine Hydrochloride Phase 2
21 Acyclovir Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24 glucocorticoids Phase 2
25 Hormone Antagonists Phase 2
26 Hormones Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
28 Complement Inactivating Agents Phase 2
29 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Therapy of Chronic Cold Agglutinin Disease With Eculizumab Completed NCT01303952 Phase 2 Eculizumab
2 Therapy for Chronic Cold Agglutinin Disease Completed NCT00373594 Phase 2 Rituximab;Fludarabine
3 Bendamustine and Rituximab Combination Therapy for Cold Agglutinin Disease Completed NCT02689986 Phase 2 Bendamustine, Rituximab
4 Short Course of Bortezomib in Anemic Patients With Refractory Cold Agglutinin Disease Completed NCT01696474 Phase 2 Bortezomib
5 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
6 Study to Assess the Safety, Tolerability, Efficacy and PK of APL-2 in Patients With wAIHA or CAD Recruiting NCT03226678 Phase 2 APL-2
7 Safety, Tolerability and Activity of TNT009 in Healthy Volunteers and Patients With Complement Mediated Disorders Recruiting NCT02502903 Phase 1 TNT009
8 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:

39
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 164)
id Title Authors Year
1
Splenic marginal zone lymphoma complicated by cold agglutinin disease. ( 28321090 )
2017
2
Neutrophil aggregation on the peripheral blood smear in a patient with cold agglutinin disease. ( 28752395 )
2017
3
Autologous peripheral blood stem cell harvest and transplant in a patient with cold agglutinin disease secondary to lymphoma. ( 28168861 )
2017
4
Neutrophil aggregation on the peripheral blood smear in a patient with cold agglutinin disease. ( 28303305 )
2017
5
Cold agglutinin disease complicated by acrocyanosis and necrosis. ( 28050677 )
2017
6
Cold agglutinin disease: an unusual cause of shock in the ICU. ( 28116450 )
2017
7
Cold agglutinin disease presenting as livedo racemosa. ( 28584043 )
2017
8
Prophylactic use of eculizumab during surgery in chronic cold agglutinin disease. ( 28487302 )
2017
9
Hot therapy for cold agglutinin disease. ( 28751358 )
2017
10
Bendamustine plus rituximab for chronic cold agglutinin disease: results of a Nordic prospective multicenter trial. ( 28533306 )
2017
11
Perioperative management of a patient with cold agglutinin disease undergoing segmental hepatectomy. ( 27827519 )
2016
12
Coomb's negative cold agglutinin disease secondary to mycoplasma pneumonia. ( 27728307 )
2016
13
Postoperative Recurrence of Invasive Thymoma with Cold Agglutinin Disease and Autoimmune Hemolytic Anemia. ( 27629968 )
2016
14
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
15
Successful renal transplantation in a patient with cold agglutinin disease. ( 27011103 )
2016
16
Immunoglobulin heavy and light chain gene features are correlated with primary cold agglutinin disease onset and activity. ( 27198717 )
2016
17
Cold agglutinin disease. ( 27913484 )
2016
18
Eculizumab as a bridge to immunosuppressive therapy in severe cold agglutinin disease of anti-Pr specificity. ( 26576277 )
2015
19
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
20
Cold agglutinin disease in sepsis: A rare entity. ( 26229347 )
2015
21
Treatment solution by Miyahara et al.: Treatment of choice for aortic arch aneurysm in a patient with cold agglutinin disease. ( 26097925 )
2015
22
Cold Agglutinin Disease; A Laboratory Challenge. ( 26566452 )
2015
23
Glucocorticoid-Responsive Cold Agglutinin Disease in a Patient with Rheumatoid Arthritis. ( 26346552 )
2015
24
Aortic arch aneurysm in a patient with cold agglutinin disease. ( 25655279 )
2015
25
Alleviated anemia by bendamustine in cold agglutinin disease associated with small lymphocytic lymphoma. ( 25765801 )
2015
26
Cold agglutinin disease detected during open heart surgery. ( 24554828 )
2014
27
Cold agglutinin disease-associated digital gangrene treated with plasmapheresis. ( 25382532 )
2014
28
Primary bone marrow diffuse large B-cell lymphoma accompanying cold agglutinin disease: A case report with review of the literature. ( 24348825 )
2014
29
A man with "black fingers". Cold agglutinin disease (CAD). ( 24457440 )
2014
30
Long-term response of refractory primary cold agglutinin disease to eculizumab therapy. ( 23722501 )
2014
31
Cold agglutinin disease with erythrophagocytosis by neutrophils occurring during recovery phase of chickenpox. ( 24701117 )
2013
32
Therapy for chronic cold agglutinin disease: perspective for further improvements. ( 23399355 )
2013
33
Acronecrosis with cold agglutinin disease mimics diabetic gangrene. ( 23545690 )
2013
34
Blood clotting at room temperature in cold agglutinin disease. ( 23946942 )
2013
35
Acute exacerbation of cold agglutinin disease during operation. ( 24478842 )
2013
36
Cold agglutinin disease. ( 23757733 )
2013
37
Cold agglutinin disease with prolymphocytic leukemia. ( 22833870 )
2012
38
Primary cold agglutinin disease: a case report. ( 23738411 )
2012
39
Plasma exchange and rituximab treatment for lenalidomide-associated cold agglutinin disease. ( 22435421 )
2012
40
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
41
Relapsed lymphoma preceded by cold agglutinin disease. ( 22611566 )
2012
42
Occurrence of lymphoplasmacytic lymphoma 6 years after amelioration of primary cold agglutinin disease by rituximab therapy. ( 22878940 )
2012
43
Cold agglutinin disease in fibrolamellar hepatocellular carcinoma: a rare association with a rare cancer variant. ( 21293066 )
2011
44
Type A aortic dissection with cold agglutinin disease. ( 21801929 )
2011
45
Primary gastrointestinal diffuse large B cell lymphoma presenting with cold agglutinin disease. ( 21887126 )
2011
46
Normothermic total arch replacement without hypothermic circulatory arrest to treat aortic distal arch aneurysm in a patient with cold agglutinin disease. ( 21788303 )
2011
47
How I manage cold agglutinin disease. ( 21385173 )
2011
48
Anesthetic and cardiopulmonary bypass considerations for cardiac surgery in unique pediatric patient populations: sickle cell disease and cold agglutinin disease. ( 23803987 )
2011
49
Erythrophagocytosis in cold agglutinin disease. ( 20502359 )
2011
50
Primary cold agglutinin disease. ( 22315851 )
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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 CRP IGHM IL6 MS4A1
2 external side of plasma membrane GO:0009897 8.8 IGHM IL6 MS4A1

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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