MCID: GMM003
MIFTS: 46

Gamma Heavy Chain Disease malady

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

Aliases & Classifications for Gamma Heavy Chain Disease

Aliases & Descriptions for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 12 50 14
Franklin Disease 50 56
Gamma Heavy Chain Deposition Disease 50
Gamma-Heavy Chain Disease 56
Igg Heavy Chain Disease 50
Gamma-Chain Disease 69
Franklin's Disease 12
Gamma-Hcd 56

Characteristics:

Orphanet epidemiological data:

56
gamma-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060127
Orphanet 56 ORPHA100026
ICD10 via Orphanet 34 C88.2

Summaries for Gamma Heavy Chain Disease

NIH Rare Diseases : 50 gamma heavy chain disease is characterized by the abnormal production of antibodies. antibodies are made up of light chains and heavy chains. in this disorder, the heavy chain of the gamma antibody (igg) is overproduced by the body.  gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. however, some people with this disorder have no symptoms. people with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder. last updated: 7/25/2010

MalaCards based summary : Gamma Heavy Chain Disease, also known as franklin disease, is related to heavy chain disease and alcoholic neuropathy, and has symptoms including fatigue, fever and dysphagia. An important gene associated with Gamma Heavy Chain Disease is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways/superpathways are Immune response Fc epsilon RI pathway and B cell receptor signaling pathway (KEGG). The drugs Bortezomib and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are cellular and hematopoietic system

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 89)
id Related Disease Score Top Affiliating Genes
1 heavy chain disease 10.6
2 alcoholic neuropathy 10.3 CD40LG CD79A
3 camptodactyly vertebral fusion 10.3 CD40LG CD79A
4 amyotrophic lateral sclerosis type 10 10.3 CD79A GIF
5 spinal polio 10.3 CD40LG CD79A
6 rabies 10.3 CD40LG CD79A
7 unilateral retinoblastoma 10.3 CD40LG CD79A
8 mesangial proliferative glomerulonephritis 10.3 CD40LG CD79A
9 discitis 10.3 CD40LG CD79A
10 spinal canal and spinal cord meningioma 10.3 CD40LG CD79A
11 trichostrongyloidiasis 10.3 CD40LG CD79A
12 colloid adenoma 10.3 CD40LG CD79A
13 heart septal defect 10.3 CD40LG CD79A
14 cutaneous polyarteritis nodosa 10.3 CD40LG CD79A
15 mild pre-eclampsia 10.3 CD40LG CD79A
16 retinal microaneurysm 10.3 CD40LG CD79A
17 pediatric meningioma 10.2 CD40LG CD79A
18 tonsil cancer 10.2 CD40LG CD79A
19 indomethacin antenatal infection 10.2 CD40LG CD79A
20 postcricoid region cancer 10.2 CD40LG CD79A
21 beach ear 10.2 CD40LG CD79A
22 acute kidney tubular necrosis 10.2 CD40LG CD79A
23 atheroembolism of kidney 10.2 CD40LG CD79A
24 dendritic cell thymoma 10.2 CD38 CD79A
25 partial sensory epilepsy 10.2 CD40LG CD79A
26 ritscher-schinzel syndrome 1 10.2 CD40LG CD79A
27 diabetic angiopathy 10.2 CD40LG CD79A
28 endocarditis 10.2 CD40LG CD79A
29 muscular dystrophy 10.2 CD40LG CD79A
30 dumping syndrome 10.2 CD40LG CD79A
31 striatonigral degeneration 10.2 CD40LG CD79A
32 ciliary body spindle cell melanoma 10.2 CD40LG CD79A
33 purulent endophthalmitis 10.2 CD40LG CD79A
34 tongue squamous cell carcinoma 10.2 MYD88 PTPRC
35 generalized atherosclerosis 10.2 CD40LG CD79A
36 bursitis 10.2 CD40LG CD79A
37 colonic benign neoplasm 10.2 CD40LG CD79A MYD88
38 paramyloidosis 10.2 CD40LG MYD88
39 mixed malaria 10.2 CD40LG CD79A MYD88
40 syphilis 10.2 CD40LG CD79A
41 abdominal tuberculosis 10.2 CD40LG CD79A SUCO
42 hallucinogen dependence 10.2 CD40LG CD79A MYD88
43 homocystinuria 10.2 CD40LG CD79A
44 inflammatory breast carcinoma 10.2 CD19 CD79A
45 mental retardation, autosomal dominant 19 10.2 CD40LG CD79A
46 vaginal glandular tumor 10.1 CD40LG CD79A GIF
47 hemangioma of orbit 10.1 CD40LG CD79A
48 infundibulocystic basal cell carcinoma 10.1 CD19 CD40LG
49 leiomyosarcoma 10.1 CD40LG CD79A
50 venezuelan equine encephalitis 10.1 CD38 CD40LG CD79A

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:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 fever 56 32 Very frequent (99-80%) HP:0001945
3 dysphagia 56 32 Occasional (29-5%) HP:0002015
4 splenomegaly 56 32 Frequent (79-30%) HP:0001744
5 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
6 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
7 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
8 skin rash 56 32 Frequent (79-30%) HP:0000988
9 osteolysis 56 32 Occasional (29-5%) HP:0002797
10 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
11 abnormality of the palate 56 32 Occasional (29-5%) HP:0000174
12 rheumatoid arthritis 56 32 Occasional (29-5%) HP:0001370
13 autoimmune hemolytic anemia 56 32 Occasional (29-5%) HP:0001890
14 autoimmune thrombocytopenia 56 32 Occasional (29-5%) HP:0001973
15 abnormality of lymphocytes 56 32 Very frequent (99-80%) HP:0004332
16 neoplasm of the tongue 56 32 Frequent (79-30%) HP:0100648
17 anemia 56 Frequent (79-30%)
18 autoimmunity 56 Occasional (29-5%)
19 thrombocytopenia 56 Occasional (29-5%)
20 abnormality of bone marrow cell morphology 56 Very frequent (99-80%)

UMLS symptoms related to Gamma Heavy Chain Disease:


fever

MGI Mouse Phenotypes related to Gamma Heavy Chain Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 CD19 CD38 CD40LG CD79A FUT4 MYD88
2 hematopoietic system MP:0005397 10.06 CD19 CD38 CD40LG CD79A FUT4 MYD88
3 cardiovascular system MP:0005385 10.01 CD19 CD40LG FUT4 MYD88 NRAS PARD3
4 homeostasis/metabolism MP:0005376 10 PTPRC SLC3A2 SUCO CD19 CD38 CD40LG
5 immune system MP:0005387 9.9 CD19 CD38 CD40LG CD79A FUT4 MYD88
6 neoplasm MP:0002006 9.43 CD19 CD79A MYD88 NRAS PTPRC SLC3A2
7 renal/urinary system MP:0005367 9.1 CD19 CD40LG CD79A MYD88 PTPRC SUCO

Drugs & Therapeutics for Gamma Heavy Chain Disease

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

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

Interventional clinical trials:


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

Search 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:

39
Bone, Skin, Bone Marrow, Tongue, T Cells, Thyroid, Lymph Node

Publications for Gamma Heavy Chain Disease

Articles related to Gamma Heavy Chain Disease:

(show top 50) (show all 68)
id Title Authors Year
1
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
2
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
3
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
4
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2015
5
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
6
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
7
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
8
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
9
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. ( 22561184 )
2012
10
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
11
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
12
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
13
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
14
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
15
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
16
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
17
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. ( 10950937 )
2000
18
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
19
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
20
Primary SjAPgren's syndrome and gamma heavy chain disease. ( 7991295 )
1994
21
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. ( 8160637 )
1994
22
First report of fludarabine in gamma-heavy chain disease. ( 7819086 )
1994
23
N-ras oncogene activation in a patient with gamma heavy chain disease. ( 1288299 )
1992
24
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. ( 1519038 )
1992
25
Atrophie blanche in a patient with gamma-heavy-chain disease. ( 1899331 )
1991
26
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. ( 2121807 )
1990
27
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. ( 2495168 )
1989
28
Gamma heavy chain disease and rheumatoid arthritis. ( 2658067 )
1989
29
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. ( 3139711 )
1988
30
Cutaneous lesions in gamma heavy-chain disease. ( 3138950 )
1988
31
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. ( 3124986 )
1988
32
Multiple osteolytic lesions in a case of gamma heavy chain disease: roentgenographic findings. ( 3133921 )
1988
33
Osteolytic gamma heavy chain disease. ( 3115824 )
1987
34
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. ( 3932151 )
1985
35
Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7. ( 3917846 )
1985
36
Gamma heavy-chain disease involving upper airway. ( 3932940 )
1985
37
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. ( 6427878 )
1984
38
Gamma heavy chain disease studied by two-dimensional electrophoresis and immuno-blotting techniques. ( 6437695 )
1984
39
Gamma heavy chain disease. Where the heavy chains arise. ( 6404156 )
1983
40
Gamma heavy chain disease. Ultrastructural and immunohistochemical study. ( 6414241 )
1983
41
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. ( 6811785 )
1982
42
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. ( 6806895 )
1982
43
The histopathology of gamma heavy-chain disease. ( 6814232 )
1982
44
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. ( 6808505 )
1982
45
Diagnosis of gamma heavy-chain disease. ( 6792974 )
1981
46
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. ( 6789012 )
1981
47
Gamma heavy chain disease protein CHA: immunological and structural studies. ( 6796821 )
1981
48
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. ( 6790158 )
1981
49
Gamma heavy chain disease with an unusually benign course. ( 6769634 )
1980
50
A new case of gamma heavy chain disease: clinical, immunochemical and structural characterization. ( 91266 )
1979

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

GO Terms for Gamma Heavy Chain Disease

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 CD38 CD40LG FUT4 PTPRC SLC3A2
2 external side of plasma membrane GO:0009897 9.02 CD19 CD40LG CD79A IGHG3 PTPRC

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

id Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.46 CD19 CD79A MYD88 PTPRC
2 B cell proliferation GO:0042100 9.13 CD40LG CD79A PTPRC
3 B cell receptor signaling pathway GO:0050853 9.02 CD19 CD38 CD79A IGHG3 PTPRC

Sources for Gamma Heavy Chain 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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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