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HCD
MCID: HVY001
MIFTS: 35

Heavy Chain Disease (HCD)

Categories: Blood diseases, Gastrointestinal diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Drugs
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Aliases & Classifications for Heavy Chain Disease

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MalaCards integrated aliases for Heavy Chain Disease:

Name: Heavy Chain Disease 12 58 43 15 17 71
Hcd 58

Characteristics:

Orphanet epidemiological data:

58
heavy chain disease
Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060125
MeSH 43 D006362
ICD10 32 C88.2
MESH via Orphanet 44 D006362
ICD10 via Orphanet 33 C88.2 C88.3
UMLS via Orphanet 72 C0018852
Orphanet 58 ORPHA86864
UMLS 71 C0018852 C0018854 C0242310
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Summaries for Heavy Chain Disease

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Disease Ontology : 12 A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.

MalaCards based summary : Heavy Chain Disease, also known as hcd, is related to gamma heavy chain disease and mu chain disease. An important gene associated with Heavy Chain Disease is IGHG3 (Immunoglobulin Heavy Constant Gamma 3 (G3m Marker)). The drugs Bevacizumab and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include small intestine, b cells and t cells.

Wikipedia : 74 Heavy chain disease is a form of paraproteinemia and plasma cell dyscrasia that involves the... more...

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Related Diseases for Heavy Chain Disease

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Diseases in the Heavy Chain Disease family:

Gamma Heavy Chain Disease Alpha-Heavy Chain Disease

Diseases related to Heavy Chain Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 190)
# Related Disease Score Top Affiliating Genes
1 gamma heavy chain disease 34.4 SUCO MYD88 IGHG3 CD40LG
2 mu chain disease 32.2 SUCO JCHAIN CD40LG
3 alpha chain disease 31.2 SUCO MYOM2 JCHAIN CD79A CD40LG
4 gastrointestinal lymphoma 30.3 SERPINA3 CD79A
5 marginal zone b-cell lymphoma 29.9 MYD88 CD79A CD40LG
6 lymphoma, mucosa-associated lymphoid type 29.9 MYD88 CD79A CD40LG
7 vasculitis 29.8 SERPINA3 CD79A CD40LG
8 extramedullary plasmacytoma 29.8 MYOM2 CD79A
9 hypersensitivity reaction type iv disease 29.7 SERPINA3 CFHR2 CD40LG
10 peripheral nervous system disease 29.7 SERPINA3 MYOM2 CD40LG
11 lymphoplasmacytic lymphoma 29.7 MYOM2 MYD88 CD79A CD40LG
12 amyloidosis 29.6 SERPINA3 MYOM2 CD40LG
13 keratoconjunctivitis sicca 29.6 CD79A CD40LG
14 monoclonal gammopathy of uncertain significance 29.5 MYOM2 MYD88 CFHR2 CD40LG
15 iga glomerulonephritis 29.4 JCHAIN CFHR2 CD79A CD40LG
16 plasma cell neoplasm 29.3 SERPINA3 MYOM2 CD79A CD40LG
17 lymphoma, non-hodgkin, familial 29.2 SERPINA3 MYOM2 MYD88 CD79A CD40LG
18 alpha-heavy chain disease 12.6
19 agammaglobulinemia 11.8
20 myosinopathies 11.4
21 diaphragmatic hernia, congenital 11.3
22 delta chain disease 11.2
23 triiodothyronine receptor auxiliary protein 10.5
24 lymphoma 10.3
25 splenic infarction 10.3 SERPINA3 CD40LG
26 lymphocytic leukemia 10.3
27 acrodermatitis chronica atrophicans 10.3 CFHR2 CD40LG
28 chronic meningitis 10.3 SERPINA3 CD40LG
29 acrodermatitis 10.3 CFHR2 CD40LG
30 lymphoproliferative syndrome 10.2
31 diarrhea 10.2
32 central nervous system vasculitis 10.2 SERPINA3 CD40LG
33 tularemia 10.2 MYD88 CD40LG
34 intestinal disease 10.2
35 testicular lymphoma 10.2 MYD88 CD79A
36 osteosclerotic myeloma 10.2 MYOM2 CD40LG
37 autoimmune disease of skin and connective tissue 10.2 SERPINA3 CD40LG
38 leukemia, chronic lymphocytic 10.2
39 splenomegaly 10.2
40 non-secretory myeloma 10.2 MYOM2 CD40LG
41 cecal disease 10.2 SERPINA3 CD40LG
42 bronchopneumonia 10.2 SERPINA3 CD40LG
43 mononeuritis of upper limb and mononeuritis multiplex 10.2 MYOM2 CD40LG
44 mononeuritis multiplex 10.2 MYOM2 CD40LG
45 hemorrhagic fever-renal syndrome 10.2 CD79A CD40LG
46 c1q nephropathy 10.2 CD79A CD40LG
47 arteriolosclerosis 10.2 SERPINA3 CD79A
48 hilar lung carcinoma 10.2 CD79A CD40LG
49 lung hilum cancer 10.2 CD79A CD40LG
50 immunoglobulin g deficiency 10.2 CD79A CD40LG

Graphical network of the top 20 diseases related to Heavy Chain Disease:



Diseases related to Heavy Chain Disease
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Symptoms & Phenotypes for Heavy Chain Disease

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Drugs & Therapeutics for Heavy Chain Disease

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Drugs for Heavy Chain Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
3 Antineoplastic Agents, Immunological Phase 2
4 Angiogenesis Inhibitors Phase 2
5 Immunoglobulin M Phase 2
6 Immunologic Factors Phase 2
7 Immunoglobulins Phase 2
8 Paraproteins Phase 2
9 Myeloma Proteins Phase 2
10 Immunoglobulin A Phase 2
11 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed Refractory Multiple Myeloma Completed NCT00464178 Phase 2 Bortezomilb

Search NIH Clinical Center for Heavy Chain Disease

Cochrane evidence based reviews: heavy chain disease

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Genetic Tests for Heavy Chain Disease

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Anatomical Context for Heavy Chain Disease

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MalaCards organs/tissues related to Heavy Chain Disease:

40
Small Intestine, B Cells, T Cells, Thyroid, Lymph Node, Skin, Lung
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Publications for Heavy Chain Disease

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Articles related to Heavy Chain Disease:

(show top 50) (show all 378)
# Title Authors PMID Year
1
Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature. 61
32013371 2020
2
Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry. 61
31884198 2019
3
Gamma-heavy chain monoclonal gammopathy with undetermined significance (MGUS). 61
31391403 2019
4
γ Heavy chain disease. 61
30898778 2019
5
Gamma heavy chain disease (γ-HCD) as iatrogenic immunodeficiency- associated lymphoproliferative disorder: Possible emergent subtype of rheumatoid arthritis-associated γ-HCD. 61
31866621 2019
6
Methotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis. 61
29987858 2018
7
Interpretation Difficulties of Serum Immunofixation Test in Immunoglobulin D Multiple Myeloma with Hidden Lambda Light Chains. 61
29945318 2018
8
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. 61
29315075 2018
9
Gamma heavy-chain disease accompanied with follicular lymphoma: a case report. 61
29472805 2018
10
Heavy Chain Disease of the Small Bowel. 61
29372346 2018
11
Two Cases of γ-Heavy Chain Disease and a Review of the Literature. 61
30186642 2018
12
Heavy chain disease: our experience. 61
28665788 2017
13
Morphologic features of μ-heavy-chain disease. 61
28751360 2017
14
The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits. 61
28069266 2017
15
T cell receptor rearrangements in a patient with γ-heavy chain disease: A case report. 61
27313757 2016
16
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. 61
27237805 2016
17
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. 61
26222587 2016
18
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. 61
26875967 2016
19
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. 61
25663537 2015
20
Franklin's disease: immunoglobulin heavy chain disease. 61
27358869 2015
21
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. 61
24859878 2014
22
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. 61
25180407 2014
23
Analysis of patients with γ-heavy chain disease by the heavy/light chain and free light chain assays. 61
24327529 2014
24
Severe enteropathy caused by α-heavy chain disease lacking detectable M-proteins. 61
24633028 2014
25
Alpha heavy chain disease: a rare lymphoma hard to diagnose. 61
25125965 2014
26
The heavy chain diseases: clinical and pathologic features. 61
24683718 2014
27
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. 61
22694793 2013
28
Gamma heavy chain disease in a patient with underlying lymphoplasmacytic lymphoma of the thyroid. Report of a case and comparison with other reported cases with thyroid involvement. 61
22561184 2012
29
Penicillium pneumonia in a patient with newly diagnosed Franklin disease. 61
22543591 2012
30
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. 61
22301495 2012
31
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. 61
23092068 2012
32
Successful treatment of γ-heavy-chain disease with rituximab and fludarabine. 61
22890122 2012
33
Marginal zone lymphomas with plasmacytic differentiation and related disorders. 61
21757594 2011
34
Renal outcome and monoclonal immunoglobulin deposition disease in 289 old patients with blood cell dyscrasias: a single center experience. 61
20570173 2011
35
A primer on clinical applications and assays using urine: focus on analysis of plasma cell dyscrasias using automated electrophoresis and immunofixation. 61
20407939 2010
36
Proteomics and detection of uromodulin in first-time renal calculi patients and recurrent renal calculi patients. 61
19145410 2009
37
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. 61
18839436 2008
38
Capillary immunotyping electrophoresis and high resolution two-dimensional electrophoresis for the detection of mu-heavy chain disease. 61
18036562 2008
39
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. 61
18348312 2008
40
Hypertrophic spinal pachymeningitis associated with heavy-chain disease. Case report. 61
17933324 2007
41
Multiple extranodal tumors in mu-heavy chain disease. 61
17050207 2006
42
[Alpha heavy chain disease. A Tunisian case]. 61
17263208 2006
43
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. 61
16536920 2006
44
Heavy-chain-only antibody expression and B-cell development in the mouse. 61
17341184 2006
45
Low-grade B-Cell lymphomas with plasmacytic differentiation lack PAX5 gene rearrangements. 61
16049306 2005
46
Detection of heavy chain disease by capillary zone electrophoresis. 61
15976121 2005
47
A case report: isolated a heavy chain monoclonal gammopathy in a patient with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin change syndrome. 61
15875614 2005
48
A case of congenital cutis laxa (generalized elastolysis). 61
15875069 2005
49
Heavy chain disease can be detected by capillary zone electrophoresis. 61
15613723 2005
50
Understanding and interpreting serum protein electrophoresis. 61
15663032 2005
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Variations for Heavy Chain Disease

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Expression for Heavy Chain Disease

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Search GEO for disease gene expression data for Heavy Chain Disease.
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Pathways for Heavy Chain Disease

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GO Terms for Heavy Chain Disease

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Cellular components related to Heavy Chain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.8 SERPINA3 JCHAIN IGHG3

Biological processes related to Heavy Chain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell proliferation GO:0042100 8.96 CD79A CD40LG
2 innate immune response GO:0045087 8.92 MYD88 JCHAIN IGHG3 DDX1
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Sources for Heavy Chain Disease

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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