MCID: GMM003
MIFTS: 43

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 wrinkles and intestinal schistosomiasis, 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, liver and tongue, 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 171)
idRelated DiseaseScoreTop Affiliating Genes
1wrinkles10.4CD40LG, MYD88
2intestinal schistosomiasis10.4CD40LG, SUCO
3typhus10.4CD40LG, CD79A
4pulmonary edema10.4CD40LG, CD79A
5congenital hypogammaglobulinemia10.4CD40LG, CD79A
6calabro syndrome10.4CD40LG, CD79A
7exanthema subitum10.4CD40LG, CD79A
8osteomalacia10.4CD40LG, CD79A
9epidermolysis bullosa simplex10.4CD40LG, CD79A
10proliferative glomerulonephritis10.4CD40LG, CD79A
11cryopyrin-associated periodic syndrome10.4CD40LG, CD79A
12acute salpingitis10.4CD40LG, CD79A
13beriberi10.4CD40LG, CD79A
14cystitis10.4CD40LG, CD79A
15purpura10.4CD40LG, CD79A
16choroid plexus meningioma10.4CD40LG, CD79A
17immunotactoid glomerulopathy10.4CD40LG, CD79A
18subacute delirium10.4CD40LG, CD79A
19dysgammaglobulinemia10.4CD40LG, CD79A
20central sleep apnea10.4CD40LG, CD79A
21sialadenitis10.4CD40LG, CD79A
22ureteral lymphoma10.4CD40LG, CD79A
23mixed lacrimal gland cancer10.4CD40LG, CD79A
24somatoform disorder10.4CD40LG, CD79A
25aids phobia10.4CD40LG, CD79A
26ocular hypotension10.4CD40LG, CD79A
27differentiating neuroblastoma10.4CD40LG, CD79A
28tenosynovitis10.4CD40LG, CD79A
29brucella melitensis brucellosis10.4CD40LG, CD79A
30fallopian tube carcinoma10.4CD40LG, CD79A
31maxillary sinusitis10.4CD40LG, CD79A
32plasma protein metabolism disease10.4CD40LG, CD79A
33peripheral nervous system disease10.4CD40LG, CD79A
34primary systemic mycosis10.4CD40LG, CD79A
35impaired renal function disease10.4CD40LG, CD79A
36parasitic conjunctivitis10.4CD40LG, CD79A
37skin granular cell tumor10.4CD40LG, CD79A
38spinocerebellar ataxia, autosomal recessive 1010.4CD40LG, CD79A
39weill-marchesani syndrome10.4CD40LG, CD79A
40late congenital syphilis10.4CD40LG, CD79A
41pityriasis rosea10.4CD40LG, CD79A
42isodicentric 1510.4CD40LG, CD79A
43craniofacioskeletal syndrome10.4CD40LG, CD79A
44cd40 deficiency10.4CD40LG, CD79A
45acute necrotizing encephalitis10.4CD40LG, CD79A
46coronin-1a deficiency10.3CD40LG, PTPRC
47bejel10.3CD40LG, CD79A
48subacute glomerulonephritis10.3CD40LG, CD79A
49ileitis10.3CD40LG, CD79A
50osteochondrodysplasia10.3CD40LG, 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

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

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 66)
idTitleAuthorsYear
1
Long non-coding RNA AOC4P suppresses hepatocellular carcinoma metastasis by enhancing vimentin degradation and inhibiting epithelial-mesenchymal transition. (26160837)
2015
2
Decreased expression of claudin-3 is associated with a poor prognosis and EMT in completely resected squamous cell lung carcinoma. (25820701)
2015
3
Knowledge, attitude, and practices (KAP) and risk factors analysis related to cystic echinococcosis among residents in Tibetan communities, Xiahe County, Gansu Province, China. (25757370)
2015
4
Membranous nephropathy and cerebellar degeneration with anti-GAD antibodies in type 2 diabetes mellitus. (25753172)
2015
5
Duodenal metastatic epithelioid angiosarcoma. (26519351)
2015
6
MiR-34a regulates therapy resistance by targeting HDAC1 and HDAC7 in breast cancer. (25173798)
2014
7
Brain Perfusion SPECT with Brodmann Areas Analysis in Differentiating Frontotemporal Dementia Subtypes. (25387340)
2014
8
Targeting of histone deacetylases to reactivate tumour suppressor genes and its therapeutic potential in a human cervical cancer xenograft model. (24260446)
2013
9
Racial disparity with on-treatment platelet reactivity in patients undergoing percutaneous coronary intervention. (23895809)
2013
10
A novel rodent model of posterior ischemic optic neuropathy. (23544206)
2013
11
Psychiatric disorders and symptoms in children and adolescents with sleep bruxism. (24371001)
2013
12
TNFI+ gene polymorphisms in the pathogenesis of acne vulgaris. (20386917)
2011
13
Clinical aspects of congenital syphilis with Hutchinson's triad. (22670010)
2011
14
Decreased expression of EZH2 is associated with upregulation of ER and favorable outcome to tamoxifen in advanced breast cancer. (20306127)
2011
15
Role of the HLA system in the association between multiple sclerosis and infectious mononucleosis. (21482926)
2011
16
A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. (21368660)
2011
17
The expression of a novel estrogen receptor, GPR30, in epithelial ovarian carcinoma and its correlation with MMP-9]. (21170498)
2010
18
Penile cancer--prevention and premalignant conditions. (20691883)
2010
19
Association between mechanical axis of the leg and osteochondritis dissecans of the knee: radiographic study on 103 knees. (20351199)
2010
20
SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. (19240033)
2009
21
NICE guidelines, clinical practice and antisocial personality disorder: the ethical implications of ontological uncertainty. (19880702)
2009
22
The calcium-sensing receptor regulates parathyroid hormone gene expression in transfected HEK293 cells. (19397786)
2009
23
Polymorphisms in innate immunity genes predispose to bacteremia and death in the medical intensive care unit. (19050632)
2009
24
Designed modification of partial agonist of ORL1 nociceptin receptor for conversion into highly potent antagonist. (18068993)
2008
25
The zinc-finger antiviral protein recruits the RNA processing exosome to degrade the target mRNA. (17185417)
2007
26
Expression of receptor activator of nuclear factor-kappaB ligand in synovial tissue: comparison with degradation of articular cartilage in temporomandibular joint disorders. (17560137)
2007
27
Insulin-like growth factor I, insulin-like growth factor I binding protein 1, insulin, glucose, and leptin serum levels are not influenced by a reduced-fat, high-fiber diet intervention. (16775190)
2006
28
Modulation of toll-like receptor 7 and LL-37 expression in colon and breast epithelial cells by human beta-defensin-2. (16270724)
2005
29
Maxillary African histoplasmosis: unusual diagnostic problems of an unusual presentation. (15792130)
2005
30
Collagen XVII and BPAG1 expression in the retina: evidence for an anchoring complex in the central nervous system. (15880472)
2005
31
Molecular characterization of rabbit scavenger receptor class B types I and II: portal to central vein gradient of expression in the liver. (14595001)
2004
32
Internalization of interphotoreceptor retinoid-binding protein by the Xenopus retinal pigment epithelium. (14556291)
2003
33
Altered expression of nonclassical HLA class Ib antigens in human renal cell carcinoma and its association with impaired immune response. (14602239)
2003
34
Activation of capsaicin-sensitive primary sensory neurones induces anandamide production and release. (12558978)
2003
35
Activation of spinal kainate receptors after inflammation: behavioral hyperalgesia and subunit gene expression. (12359272)
2002
36
Rac1-MKK3-p38-MAPKAPK2 pathway promotes urokinase plasminogen activator mRNA stability in invasive breast cancer cells. (12377770)
2002
37
Integrin alphavbeta3-mediated endocytosis of immobilized fibrinogen by A549 lung alveolar epithelial cells. (11152645)
2001
38
Mechanochemical manipulation of hepatocyte aggregation can selectively induce or repress liver-specific function. (10862674)
2000
39
Combined therapy utilizing a novel Na+/H+ exchange inhibitor (SM-20220) and THAM for ischemic brain edema. (11449998)
2000
40
Famciclovir in chronic hepatitis B: results of a dose-finding study. (10898322)
2000
41
An ankyrin-like protein with transmembrane domains is specifically lost after oncogenic transformation of human fibroblasts. (10066796)
1999
42
Erythropoietin to treat anemia of prematurity. (9161667)
1997
43
Intestinal perforation after ingestion of a blister-wrapped tablet. (8538332)
1996
44
Screening of newborn infants for medium-chain acyl-CoA dehydrogenase deficiency in Hungary]. (7637977)
1995
45
Human lymphoid target cells for the cytokine-inducing seleno-organic compounds. (1300989)
1992
46
Pain and periostitis. (4045899)
1985
47
'Pulse' methylprednisolone and cyclophosphamide therapy in idiopathic rapidly progressive glomerulonephritis. (7279827)
1981
48
Acute bovine pulmonary emphysema produced by Perilla frutescens. (568714)
1978
49
Myxedema coma. (4479390)
1974
50
Tarsal tunnel syndrome. (4308089)
1969

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