MCID: GMM003
MIFTS: 49

Gamma Heavy Chain Disease malady

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

Aliases & Classifications for Gamma Heavy Chain Disease

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Aliases & Descriptions for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 10 45 12
Franklin Disease 45 51
Gamma Heavy Chain Deposition Disease 45
Gamma-Heavy Chain Disease 51
 
Igg Heavy Chain Disease 45
Gamma-Chain Disease 65
Franklin's Disease 10
Gamma-Hcd 51

Characteristics:

Orphanet epidemiological data:

51
franklin disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age

Classifications:



External Ids:

Disease Ontology10 DOID:0060127
Orphanet51 100026
ICD10 via Orphanet28 C88.2

Summaries for Gamma Heavy Chain Disease

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NIH Rare Diseases:45 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 t-cell large granular lymphocyte leukemia and alpha chain disease, and has symptoms including abnormality of temperature regulation, abnormal immunoglobulin level and skin rash. An important gene associated with Gamma Heavy Chain Disease is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways are Biogenic Amine Synthesis and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are tumorigenesis and renal/urinary system.

Disease Ontology:10 A heavy chain disease that results from an overproduction of gamma antibody (IgG).

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1t-cell large granular lymphocyte leukemia30.6CD38, CD40LG, MYD88
2alpha chain disease29.1CD40LG, CD79A, IGHG3, MYD88, PARD3, PNMT
3heavy chain disease10.7
4wrinkles10.7CD40LG, MYD88
5intestinal schistosomiasis10.7CD40LG, SUCO
6typhus10.6CD40LG, CD79A
7pulmonary edema10.6CD40LG, CD79A
8congenital hypogammaglobulinemia10.6CD40LG, CD79A
9calabro syndrome10.6CD40LG, CD79A
10exanthema subitum10.6CD40LG, CD79A
11osteomalacia10.6CD40LG, CD79A
12epidermolysis bullosa simplex10.6CD40LG, CD79A
13proliferative glomerulonephritis10.6CD40LG, CD79A
14cryopyrin-associated periodic syndrome10.6CD40LG, CD79A
15acute salpingitis10.6CD40LG, CD79A
16beriberi10.6CD40LG, CD79A
17cystitis10.6CD40LG, CD79A
18purpura10.6CD40LG, CD79A
19choroid plexus meningioma10.6CD40LG, CD79A
20immunotactoid glomerulopathy10.6CD40LG, CD79A
21subacute delirium10.6CD40LG, CD79A
22dysgammaglobulinemia10.6CD40LG, CD79A
23central sleep apnea10.6CD40LG, CD79A
24sialadenitis10.6CD40LG, CD79A
25ureteral lymphoma10.6CD40LG, CD79A
26mixed lacrimal gland cancer10.6CD40LG, CD79A
27somatoform disorder10.6CD40LG, CD79A
28aids phobia10.6CD40LG, CD79A
29ocular hypotension10.6CD40LG, CD79A
30differentiating neuroblastoma10.6CD40LG, CD79A
31tenosynovitis10.6CD40LG, CD79A
32brucella melitensis brucellosis10.6CD40LG, CD79A
33fallopian tube carcinoma10.6CD40LG, CD79A
34maxillary sinusitis10.6CD40LG, CD79A
35plasma protein metabolism disease10.6CD40LG, CD79A
36peripheral nervous system disease10.6CD40LG, CD79A
37primary systemic mycosis10.6CD40LG, CD79A
38impaired renal function disease10.6CD40LG, CD79A
39parasitic conjunctivitis10.6CD40LG, CD79A
40skin granular cell tumor10.6CD40LG, CD79A
41spinocerebellar ataxia, autosomal recessive 1010.6CD40LG, CD79A
42weill-marchesani syndrome10.5CD40LG, CD79A
43late congenital syphilis10.5CD40LG, CD79A
44pityriasis rosea10.5CD40LG, CD79A
45isodicentric 1510.5CD40LG, CD79A
46craniofacioskeletal syndrome10.5CD40LG, CD79A
47cd40 deficiency10.5CD40LG, CD79A
48acute necrotizing encephalitis10.5CD40LG, CD79A
49coronin-1a deficiency10.5CD40LG, PTPRC
50bejel10.5CD40LG, CD79A

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



Diseases related to gamma heavy chain disease

Symptoms for Gamma Heavy Chain Disease

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Symptoms:

 51 (show all 21)
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • bone marrow/medullar infiltration
  • lymphocytes anomalies
  • fever/chilling
  • asthenia/fatigue/weakness
  • anomalies of tongue, gingiva and oral mucosa
  • cutaneous rash
  • splenomegaly
  • lymphadenopathy/polyadenopathies
  • anaemia
  • palate anomalies
  • purpura/petichiae
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • repeat respiratory infections
  • peripheral neuropathy
  • osteolysis/osteoclasia/bone destruction/erosions
  • autoimmunity/autoimmune reaction/autoantibodies
  • hemolytic anemia
  • thrombocytopenia/thrombopenia
  • early death/lethality

HPO human phenotypes related to Gamma Heavy Chain Disease:

(show all 15)
id Description Frequency HPO Source Accession
1 abnormality of temperature regulation hallmark (90%) HP:0004370
2 abnormal immunoglobulin level hallmark (90%) HP:0010701
3 skin rash typical (50%) HP:0000988
4 splenomegaly typical (50%) HP:0001744
5 lymphadenopathy typical (50%) HP:0002716
6 abnormality of the palate occasional (7.5%) HP:0000174
7 thrombocytopenia occasional (7.5%) HP:0001873
8 hemolytic anemia occasional (7.5%) HP:0001878
9 subcutaneous hemorrhage occasional (7.5%) HP:0001933
10 recurrent respiratory infections occasional (7.5%) HP:0002205
11 hepatomegaly occasional (7.5%) HP:0002240
12 osteolysis occasional (7.5%) HP:0002797
13 autoimmunity occasional (7.5%) HP:0002960
14 feeding difficulties in infancy occasional (7.5%) HP:0008872
15 peripheral neuropathy occasional (7.5%) HP:0009830

UMLS symptoms related to Gamma Heavy Chain Disease:


hepatomegaly

Drugs & Therapeutics for Gamma Heavy Chain Disease

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 21875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
Bortezomibapproved, investigational, experimentalPhase 2769179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS 341
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
3ImmunoglobulinsPhase 24477
4Myeloma ProteinsPhase 222
5ParaproteinsPhase 222
6Immunoglobulin MPhase 29
7Immunoglobulin APhase 2110
8Angiogenesis Modulating AgentsPhase 23611
9Angiogenesis InhibitorsPhase 23688
10AntibodiesPhase 24477

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed/Refractory Multiple MyelomaCompletedNCT00464178Phase 2

Search NIH Clinical Center for Gamma Heavy Chain Disease

Genetic Tests for Gamma Heavy Chain Disease

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Anatomical Context for Gamma Heavy Chain Disease

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MalaCards organs/tissues related to Gamma Heavy Chain Disease:

33
Bone, Skin, Lung, Tongue, Bone marrow, Liver, Breast

Animal Models for Gamma Heavy Chain Disease or affiliated genes

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MGI Mouse Phenotypes related to Gamma Heavy Chain Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5CD19, CD79A, MYD88, PTPRC, SLC3A2
2MP:00053678.4CD19, CD40LG, CD79A, MYD88, PTPRC, SUCO
3MP:00053846.6CD19, CD38, CD40LG, CD79A, FUT4, MYD88
4MP:00053766.3CD19, CD38, CD40LG, CD79A, GIF, MYD88
5MP:00053976.1CD19, CD38, CD40LG, CD79A, FUT4, MYD88
6MP:00053875.5CD19, CD38, CD40LG, CD79A, FUT4, GIF

Publications for Gamma Heavy Chain Disease

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Articles related to Gamma Heavy Chain Disease:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. (26875967)
2016
2
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. (26222587)
2015
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 lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. (24859878)
2014
5
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. (22301495)
2012
6
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. (23092068)
2012
7
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. (18348312)
2008
8
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. (18839436)
2008
9
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. (16536920)
2006
10
Gamma-heavy chain disease: review of 23 cases. (12861101)
2003
11
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. (11371236)
2001
12
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? (10647957)
2000
13
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
14
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? (9751465)
1998
15
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. (8160637)
1994
16
Primary SjAPgren's syndrome and gamma heavy chain disease. (7991295)
1994
17
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. (1519038)
1992
18
N-ras oncogene activation in a patient with gamma heavy chain disease. (1288299)
1992
19
Atrophie blanche in a patient with gamma-heavy-chain disease. (1899331)
1991
20
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. (2121807)
1990
21
Gamma heavy chain disease and rheumatoid arthritis. (2658067)
1989
22
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. (2495168)
1989
23
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. (3139711)
1988
24
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. (3124986)
1988
25
Osteolytic gamma heavy chain disease. (3115824)
1987
26
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. (3932151)
1985
27
Gamma heavy-chain disease involving upper airway. (3932940)
1985
28
Gamma heavy chain disease. Where the heavy chains arise. (6404156)
1983
29
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. (6808505)
1982
30
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. (6811785)
1982
31
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. (6806895)
1982
32
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. (6789012)
1981
33
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. (6790158)
1981
34
Diagnosis of gamma heavy-chain disease. (6792974)
1981
35
Gamma heavy chain disease with an unusually benign course. (6769634)
1980
36
A new case of gamma heavy chain disease: clinical, immunochemical and structural characterization. (91266)
1979
37
Gamma heavy chain disease in man: synthesis of a deleted gamma3 immunoglobulin by lymphoid cells in short and long term tissue culture. (80297)
1978
38
Pathological studies on a long-term survived case of gamma heavy chain disease--a brief review of 30 reported cases and a proposal for histological typing. (104544)
1978
39
Gamma heavy chain disease seen initially as gastric neoplasm. (96746)
1978
40
A new case of gamma-heavy chain disease. (417549)
1978
41
The structural heterogeneity among degraded gamma heavy chain disease proteins. (102697)
1978
42
Gamma heavy chain disease simulating alpha chain disease. (105971)
1978
43
Gamma heavy chain disease: clinical aspects and characterization of a deleted, noncovalently linked gamma1 heavy chain dimer (BAZ). (402960)
1977
44
Gamma heavy chain disease; report of an autopsy case with a review of the literatures. (822689)
1976
45
Gamma heavy chain disease in a young girl. (828123)
1976
46
N- and C-terminal amino acid sequences of a gamma-heavy chain disease protein YOK. (819357)
1976
47
A case of gamma heavy chain disease associated with autoimmune haemolytic anaemia: clinical, haematological, immunological and pathological details. (821137)
1976
48
Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone. (1131420)
1975
49
Gamma heavy chain disease. Reports of three patients. (4562896)
1972
50
A new type of human gamma heavy chain disease protein: immunochemical and physical characteristics. (4194087)
1970

Variations for Gamma Heavy Chain Disease

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Expression for genes affiliated with Gamma Heavy Chain Disease

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

Pathways for genes affiliated with Gamma Heavy Chain Disease

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GO Terms for genes affiliated with Gamma Heavy Chain Disease

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of B cell proliferationGO:00308909.6CD38, PTPRC

Sources for Gamma Heavy Chain Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet