MCID: GMM003
MIFTS: 37

Gamma Heavy Chain Disease

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Gamma Heavy Chain Disease

MalaCards integrated aliases for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 12 20 15
Franklin Disease 20 58
Gamma Heavy Chain Deposition Disease 20
Gamma-Heavy Chain Disease 58
Igg Heavy Chain Disease 20
Gamma-Chain Disease 70
Franklin's Disease 12
Gamma-Hcd 58

Characteristics:

Orphanet epidemiological data:

58
gamma-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Gamma Heavy Chain Disease

GARD : 20 Gamma heavy chain disease affects the growth of cells in the immune system. People with this disease make an abnormal form of the gamma heavy chain, a protein used to make antibodies. This abnormal protein is overproduced by the body and can lead to abnormal cell growth. Gamma heavy chain disease mainly affects older adults with symptoms that may include swollen lymph nodes, an enlarged liver and spleen, and anemia. Some people with gamma heavy chain disease have no symptoms, while others have many symptoms and can develop an aggressive form of lymphoma. The cause of gamma heavy chain disease is unknown, but about one-third of people with this condition have an autoimmune disease. Diagnosis is based on finding high levels of gamma heavy chain in the blood, urine, and bone marrow. Treatment is focused on the symptoms and may include chemotherapy. Gamma heavy chain disease is one of three different types of heavy chain disease.

MalaCards based summary : Gamma Heavy Chain Disease, also known as franklin disease, is related to heavy chain disease and macroglobulinemia, and has symptoms including fever An important gene associated with Gamma Heavy Chain Disease is MYD88 (MYD88 Innate Immune Signal Transduction Adaptor), and among its related pathways/superpathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Malaria. Affiliated tissues include bone marrow, spleen and bone, and related phenotypes are fatigue and fever

Disease Ontology : 12 A heavy chain disease that results from an overproduction of gamma antibody (IgG).

Related Diseases for Gamma Heavy Chain Disease

Diseases in the Heavy Chain Disease family:

Gamma Heavy Chain Disease Alpha-Heavy Chain Disease

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 heavy chain disease 30.6 SUCO MYD88 IGHV4-38-2 IGHG3
2 macroglobulinemia 30.0 SDC1 MYD88
3 marginal zone b-cell lymphoma 29.7 SDC1 MYD88 IGHV4-38-2
4 diffuse large b-cell lymphoma 29.5 SDC1 MYD88 CD38
5 lymphoplasmacytic lymphoma 29.4 SDC1 MYD88 IGHV4-38-2 CD38
6 lymphoma, mucosa-associated lymphoid type 29.3 SDC1 MYD88 IGHV4-38-2
7 plasma cell neoplasm 29.3 SDC1 MYD88 IGHV4-38-2
8 leukemia, chronic lymphocytic 29.1 SDC1 MYD88 IGHV4-38-2 CD38
9 monoclonal gammopathy of uncertain significance 28.9 SDC1 MYD88 IGHV4-38-2 CD38
10 lymphoma, non-hodgkin, familial 28.9 SDC1 MYD88 IGHV4-38-2 CD38
11 splenomegaly 10.4
12 lymphoproliferative syndrome 10.4
13 lymphoma 10.4
14 rheumatoid arthritis 10.3
15 angioimmunoblastic t-cell lymphoma 10.2
16 arthritis 10.2
17 heavy chain deposition disease 10.2
18 anemia, autoimmune hemolytic 10.2
19 microvascular complications of diabetes 3 10.2
20 microvascular complications of diabetes 4 10.2
21 microvascular complications of diabetes 6 10.2
22 microvascular complications of diabetes 7 10.2
23 myelodysplastic syndrome 10.2
24 pancytopenia 10.2
25 plasmacytoma 10.2
26 arthropathy 10.2
27 peripheral nervous system disease 10.2
28 hemolytic anemia 10.2
29 neuropathy 10.2
30 light chain deposition disease 10.1
31 autoimmune disease 10.0
32 renal failure, progressive, with hypertension 10.0
33 lymphoma, hodgkin, classic 10.0
34 immune deficiency disease 10.0
35 pulmonary hypertension 10.0
36 splenic marginal zone lymphoma 10.0
37 t-cell large granular lymphocyte leukemia 10.0
38 follicular lymphoma 10.0
39 alpha chain disease 10.0
40 bone disease 10.0
41 castleman disease 10.0
42 tonsillitis 10.0
43 goiter 10.0
44 neutropenia 10.0
45 graves' disease 10.0
46 leukemia 10.0
47 keratoconjunctivitis sicca 10.0
48 cholecystitis 10.0
49 purpura 10.0
50 lymphopenia 10.0

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



Diseases related to Gamma Heavy Chain Disease

Symptoms & Phenotypes for Gamma Heavy Chain Disease

Human phenotypes related to Gamma Heavy Chain Disease:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
3 abnormality of bone marrow cell morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005561
4 abnormal lymphocyte morphology 31 hallmark (90%) HP:0004332
5 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
8 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
9 neoplasm of the tongue 58 31 frequent (33%) Frequent (79-30%) HP:0100648
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
12 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
13 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
14 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
15 autoimmune hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001890
16 autoimmune thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001973
17 rheumatoid arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001370
18 anemia 58 Frequent (79-30%)
19 autoimmunity 58 Occasional (29-5%)
20 thrombocytopenia 58 Occasional (29-5%)
21 abnormality of lymphocytes 58 Very frequent (99-80%)

UMLS symptoms related to Gamma Heavy Chain Disease:


fever

Drugs & Therapeutics for Gamma Heavy Chain Disease

Search Clinical Trials , NIH Clinical Center for Gamma Heavy Chain Disease

Genetic Tests for Gamma Heavy Chain Disease

Anatomical Context for Gamma Heavy Chain Disease

MalaCards organs/tissues related to Gamma Heavy Chain Disease:

40
Bone Marrow, Spleen, Bone, Tongue, Thyroid, Lymph Node

Publications for Gamma Heavy Chain Disease

Articles related to Gamma Heavy Chain Disease:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Gamma heavy chain disease associated with rheumatoid arthritis: a case report. 61
33726782 2021
2
[Gamma heavy chain disease associated with aggressive B lymphoma in the context of myelodysplastic syndrome]. 61
33229056 2020
3
Gamma heavy chain disease complicated by pulmonary hypertension, which was successfully treated with lenalidomide. 61
33257362 2020
4
Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders. 61
32245744 2020
5
Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry. 61
31884198 2020
6
Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature. 61
32013371 2020
7
Gamma-heavy chain disease. 61
32894957 2020
8
Gamma-heavy chain monoclonal gammopathy with undetermined significance (MGUS). 61
31391403 2019
9
Gamma heavy chain disease (γ-HCD) as iatrogenic immunodeficiency- associated lymphoproliferative disorder: Possible emergent subtype of rheumatoid arthritis-associated γ-HCD. 61
31866621 2019
10
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
11
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. 61
29315075 2018
12
Gamma heavy-chain disease accompanied with follicular lymphoma: a case report. 61
29472805 2018
13
Two Cases of γ-Heavy Chain Disease and a Review of the Literature. 61
30186642 2018
14
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. 61
27237805 2016
15
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. 61
26222587 2016
16
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. 61
26875967 2016
17
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. 61
25663537 2015
18
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. 61
24859878 2014
19
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. 61
25180407 2014
20
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. 61
22694793 2013
21
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
22
Penicillium pneumonia in a patient with newly diagnosed Franklin disease. 61
22543591 2012
23
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. 61
22301495 2012
24
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. 61
23092068 2012
25
Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia. 61
19428026 2009
26
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. 61
18839436 2008
27
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. 61
18348312 2008
28
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. 61
16536920 2006
29
A 59-year-old woman with immunotactoid glomerulopathy, heavy-chain disease, and non-hodgkin lymphoma. 61
15163227 2004
30
The discrepancy between electrophoretic and nephelometric determinations of serum gamma-globulin level. 61
15330509 2004
31
Gamma-heavy chain disease: review of 23 cases. 61
12861101 2003
32
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. 61
12227865 2002
33
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. 61
11371236 2001
34
Gamma heavy chain disease in man: independent structural abnormalities and reduced transcription of a functionally rearranged lambda L-chain gene result in the absence of L-chains. 61
10950937 2000
35
[Development of gamma-heavy chain disease during the course of diabetic nephropathy]. 61
10774247 2000
36
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? 61
10647957 2000
37
[Gamma-heavy chain disease associated with MALT lymphoma of the duodenum]. 61
9750459 1998
38
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? 61
9751465 1998
39
First report of fludarabine in gamma-heavy chain disease. 61
7819086 1994
40
Primary Sjögren's syndrome and gamma heavy chain disease. 61
7991295 1994
41
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. 61
8160637 1994
42
N-ras oncogene activation in a patient with gamma heavy chain disease. 61
1288299 1992
43
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. 61
1519038 1992
44
Gamma heavy chain disease developing in association with myelodysplastic syndrome. 61
1520611 1992
45
Atrophie blanche in a patient with gamma-heavy-chain disease. 61
1899331 1991
46
A filter affinity transfer method for the analysis of rheumatoid factors. 61
1774602 1991
47
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. 61
2121807 1990
48
Immunoglobulin heavy-chain-associated amyloidosis. 61
2118650 1990
49
Gamma heavy chain "disease": heterogeneity of the clinicopathologic features. Report of 16 cases and review of the literature. 61
2509855 1989
50
Gamma heavy chain disease and rheumatoid arthritis. 61
2658067 1989

Variations for Gamma Heavy Chain Disease

Expression for Gamma Heavy Chain Disease

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

Pathways for Gamma Heavy Chain Disease

Pathways related to Gamma Heavy Chain Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 SDC1 CD38
2 10.32 SDC1 MYD88

GO Terms for Gamma Heavy Chain Disease

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

# Name GO ID Score Top Affiliating Genes
1 immunoglobulin complex, circulating GO:0042571 8.96 IGHV4-38-2 IGHG3
2 external side of plasma membrane GO:0009897 8.8 SDC1 IGHV4-38-2 IGHG3

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.54 IGHG3 IGHV4-38-2 MYD88
2 phagocytosis, engulfment GO:0006911 9.4 IGHG3 IGHV4-38-2
3 positive regulation of B cell activation GO:0050871 9.32 IGHG3 IGHV4-38-2
4 phagocytosis, recognition GO:0006910 9.26 IGHG3 IGHV4-38-2
5 response to interleukin-1 GO:0070555 9.16 CD38 MYD88
6 defense response to bacterium GO:0042742 9.13 IGHG3 IGHV4-38-2 MYD88
7 B cell receptor signaling pathway GO:0050853 8.8 CD38 IGHG3 IGHV4-38-2

Molecular functions related to Gamma Heavy Chain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen binding GO:0003823 8.96 IGHV4-38-2 IGHG3
2 immunoglobulin receptor binding GO:0034987 8.62 IGHV4-38-2 IGHG3

Sources for Gamma Heavy Chain Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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