MCID: GMM003
MIFTS: 48

Gamma Heavy Chain Disease

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

Aliases & Classifications for Gamma Heavy Chain Disease

MalaCards integrated aliases for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 12 53 15
Franklin Disease 53 59
Gamma Heavy Chain Deposition Disease 53
Gamma-Heavy Chain Disease 59
Igg Heavy Chain Disease 53
Gamma-Chain Disease 73
Franklin's Disease 12
Gamma-Hcd 59

Characteristics:

Orphanet epidemiological data:

59
gamma-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Gamma Heavy Chain Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Gamma Heavy Chain Disease, also known as franklin disease, is related to lymphoplasmacytic lymphoma and heavy chain disease, and has symptoms including fever An important gene associated with Gamma Heavy Chain Disease is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways/superpathways are IL-2 Pathway and Immune response Fc epsilon RI pathway. Affiliated tissues include skin, bone marrow and tongue, and related phenotypes are skin rash and rheumatoid arthritis

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 132)
# Related Disease Score Top Affiliating Genes
1 lymphoplasmacytic lymphoma 30.7 CD40LG MYD88
2 heavy chain disease 30.4 CD40LG CD79A IGHG3 MYD88 PARD3 PNMT
3 alpha chain disease 29.7 CD40LG CD79A SLC3A2
4 leukemia, chronic lymphocytic 29.0 CD19 CD38 CD40LG NRAS
5 selective igg deficiency disease 10.7 CD40LG CD79A
6 c1q nephropathy 10.7 CD40LG CD79A
7 meningovascular neurosyphilis 10.7 CD40LG CD79A
8 brill-zinsser disease 10.7 CD40LG CD79A
9 exudative glomerulonephritis 10.7 CD40LG CD79A
10 cork-handlers' disease 10.7 CD40LG CD79A
11 salpingo-oophoritis 10.7 CD40LG CD79A
12 early yaws 10.7 CD40LG CD79A
13 ventilation pneumonitis 10.7 CD40LG CD79A
14 chronic interstitial cystitis 10.7 CD40LG CD79A
15 axillary adenitis 10.7 CD40LG CD79A
16 cryofibrinogenemia 10.7 CD40LG CD79A
17 trichostrongyloidiasis 10.7 CD40LG CD79A
18 subacute bacterial endocarditis 10.7 CD40LG CD79A
19 heterophyiasis 10.7 CD40LG CD79A
20 immunoglobulin g deficiency 10.7 CD40LG CD79A
21 orbital granuloma 10.7 CD40LG CD79A
22 hyperglobulinemic purpura 10.7 CD40LG CD79A
23 gastroduodenitis 10.7 CD40LG CD79A
24 bacterial conjunctivitis 10.7 CD40LG CD79A
25 ophthalmia neonatorum 10.7 CD40LG CD79A
26 immunoglobulin a deficiency 1 10.7 CD40LG CD79A
27 testicular lymphoma 10.7 MYD88 PTPRC
28 parotid disease 10.7 CD40LG CD79A
29 cerebral arteritis 10.7 CD40LG CD79A
30 selective immunoglobulin deficiency disease 10.7 CD40LG CD79A
31 geniculate herpes zoster 10.7 CD40LG CD79A
32 erythema elevatum diutinum 10.7 CD40LG CD79A
33 sporotrichosis 10.7 CD40LG CD79A
34 fallopian tube disease 10.7 CD40LG CD79A
35 hyperimmunoglobulin syndrome 10.7 CD40LG CD79A
36 encapsulated thymoma 10.7 CD38 CD79A
37 congenital syphilis 10.7 CD40LG CD79A
38 polyclonal hypergammaglobulinemia 10.6 CD40LG CD79A
39 salpingitis 10.6 CD40LG CD79A
40 ocular toxoplasmosis 10.6 CD40LG CD79A
41 dysgammaglobulinemia 10.6 CD40LG CD79A
42 acute maxillary sinusitis 10.6 CD40LG CD79A
43 chronic polyneuropathy 10.6 CD40LG CD79A
44 spinocerebellar ataxia, autosomal recessive 10 10.6 CD40LG CD79A
45 parasitic ichthyosporea infectious disease 10.6 CD40LG CD79A
46 cd40 ligand deficiency 10.6 CD40LG CD79A
47 rhinosporidiosis 10.6 CD40LG CD79A
48 secondary syphilis 10.6 CD40LG CD79A
49 yellow nail syndrome 10.6 CD40LG CD79A
50 congenital toxoplasmosis 10.6 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:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 59 32 frequent (33%) Frequent (79-30%) HP:0000988
2 rheumatoid arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001370
3 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
4 autoimmune hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001890
5 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
6 autoimmune thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001973
7 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
8 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
9 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
10 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
11 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
12 abnormality of bone marrow cell morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005561
13 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
14 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
15 neoplasm of the tongue 59 32 frequent (33%) Frequent (79-30%) HP:0100648
16 abnormality of the palate 59 Occasional (29-5%)
17 thrombocytopenia 59 Occasional (29-5%)
18 anemia 59 Frequent (79-30%)
19 autoimmunity 59 Occasional (29-5%)
20 abnormality of lymphocytes 59 Very frequent (99-80%)
21 abnormal palate morphology 32 occasional (7.5%) HP:0000174
22 abnormal lymphocyte morphology 32 hallmark (90%) HP:0004332

UMLS symptoms related to Gamma Heavy Chain Disease:


fever

MGI Mouse Phenotypes related to Gamma Heavy Chain Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 CD38 NRAS CD40LG CD79A PTPRC FUT4
2 hematopoietic system MP:0005397 10.1 CD38 NRAS CD40LG PARD3 CD79A PTPRC
3 homeostasis/metabolism MP:0005376 10.03 MYD88 CD38 NRAS CD40LG PARD3 PNMT
4 cardiovascular system MP:0005385 10.01 CD19 MYD88 NRAS CD40LG PARD3 PNMT
5 immune system MP:0005387 9.93 CD38 NRAS CD40LG PARD3 CD79A PTPRC
6 neoplasm MP:0002006 9.43 MYD88 NRAS CD79A PTPRC CD19 SLC3A2
7 renal/urinary system MP:0005367 9.1 CD19 MYD88 CD40LG CD79A PTPRC SUCO

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:

41
Skin, Bone Marrow, Tongue, Bone, T Cells, Thyroid, Lymph Node

Publications for Gamma Heavy Chain Disease

Articles related to Gamma Heavy Chain Disease:

(show top 50) (show all 70)
# Title Authors Year
1
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. ( 29315075 )
2018
2
Gamma heavy-chain disease accompanied with follicular lymphoma: a case report. ( 29472805 )
2018
3
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
4
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
5
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
6
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2015
7
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
8
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
9
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
10
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
11
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
12
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
13
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
14
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
15
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
16
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
17
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
18
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
19
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
20
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
21
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
22
First report of fludarabine in gamma-heavy chain disease. ( 7819086 )
1994
23
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. ( 8160637 )
1994
24
Primary SjAPgren's syndrome and gamma heavy chain disease. ( 7991295 )
1994
25
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. ( 1519038 )
1992
26
N-ras oncogene activation in a patient with gamma heavy chain disease. ( 1288299 )
1992
27
Atrophie blanche in a patient with gamma-heavy-chain disease. ( 1899331 )
1991
28
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. ( 2121807 )
1990
29
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. ( 2495168 )
1989
30
Gamma heavy chain disease and rheumatoid arthritis. ( 2658067 )
1989
31
Cutaneous lesions in gamma heavy-chain disease. ( 3138950 )
1988
32
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. ( 3124986 )
1988
33
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. ( 3139711 )
1988
34
Multiple osteolytic lesions in a case of gamma heavy chain disease: roentgenographic findings. ( 3133921 )
1988
35
Osteolytic gamma heavy chain disease. ( 3115824 )
1987
36
Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7. ( 3917846 )
1985
37
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. ( 3932151 )
1985
38
Gamma heavy-chain disease involving upper airway. ( 3932940 )
1985
39
Gamma heavy chain disease studied by two-dimensional electrophoresis and immuno-blotting techniques. ( 6437695 )
1984
40
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. ( 6427878 )
1984
41
Gamma heavy chain disease. Where the heavy chains arise. ( 6404156 )
1983
42
Gamma heavy chain disease. Ultrastructural and immunohistochemical study. ( 6414241 )
1983
43
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. ( 6806895 )
1982
44
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. ( 6808505 )
1982
45
The histopathology of gamma heavy-chain disease. ( 6814232 )
1982
46
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. ( 6811785 )
1982
47
Gamma heavy chain disease protein CHA: immunological and structural studies. ( 6796821 )
1981
48
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. ( 6789012 )
1981
49
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. ( 6790158 )
1981
50
Diagnosis of gamma heavy-chain disease. ( 6792974 )
1981

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:

# 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:

# 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
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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