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MCID: RTC012
MIFTS: 40

Reticuloendotheliosis, X-Linked

Categories: Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Reticuloendotheliosis, X-Linked

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MalaCards integrated aliases for Reticuloendotheliosis, X-Linked:

Name: Reticuloendotheliosis, X-Linked 56 52
Reticuloendotheliosis 52 54

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
reticuloendotheliosis, x-linked:
Inheritance x-linked inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 312500
MedGen 41 C0035288
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Summaries for Reticuloendotheliosis, X-Linked

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MalaCards based summary : Reticuloendotheliosis, X-Linked, also known as reticuloendotheliosis, is related to intrapelvic lymph node leukemic reticuloendotheliosis and omenn syndrome. An important gene associated with Reticuloendotheliosis, X-Linked is RELA (RELA Proto-Oncogene, NF-KB Subunit), and among its related pathways/superpathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Ras signaling pathway. The drugs Vorinostat and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include spleen, lung and t cells, and related phenotypes are anemia and jaundice

Wikipedia : 74 Histoplasmosis is a disease caused by the fungus Histoplasma capsulatum. Symptoms of this infection vary... more...

More information from OMIM: 312500
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Related Diseases for Reticuloendotheliosis, X-Linked

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Diseases related to Reticuloendotheliosis, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 intrapelvic lymph node leukemic reticuloendotheliosis 12.3
2 omenn syndrome 11.8
3 hairy cell leukemia 11.7
4 classic hairy cell leukemia 11.7
5 histoplasmosis 11.5
6 leukemia 10.6
7 letterer-siwe disease 10.6
8 lymphoma 10.5
9 melanoma tumor antigen gp90 10.5
10 acute leukemia 10.4
11 newcastle disease 10.4
12 hypereosinophilic syndrome 10.3
13 splenomegaly 10.3
14 sarcoma 10.3
15 histiocytosis 10.3
16 spindle cell sarcoma 10.3
17 avian influenza 10.3
18 langerhans cell histiocytosis 10.3
19 diarrhea 10.3
20 thrombocytopenia 10.3
21 mycosis fungoides 10.2
22 deficiency anemia 10.2
23 neutropenia 10.2
24 leukemia, chronic lymphocytic 10.1
25 lymphocytic leukemia 10.1
26 pancytopenia 10.1
27 hemolytic anemia 10.1
28 hypersplenism 10.1
29 monocytic leukemia 10.1
30 stomatitis 10.1
31 granulocytopenia 10.1
32 lymphosarcoma 10.1
33 marek disease 10.1
34 erythroleukemia, familial 10.1
35 immune deficiency disease 10.1
36 bacterial infectious disease 10.1
37 gaucher's disease 10.1
38 vasculitis 10.1
39 follicular mucinosis 10.1
40 eosinophilia, familial 9.9
41 keratitis, hereditary 9.9
42 sarcoidosis 1 9.9
43 torticollis 9.9
44 triiodothyronine receptor auxiliary protein 9.9
45 anemia, autoimmune hemolytic 9.9
46 hemophagocytic lymphohistiocytosis, familial, 1 9.9
47 reticulum cell sarcoma 9.9
48 sjogren syndrome 9.9
49 ataxia and polyneuropathy, adult-onset 9.9
50 retinitis pigmentosa 13 9.9

Graphical network of the top 20 diseases related to Reticuloendotheliosis, X-Linked:



Diseases related to Reticuloendotheliosis, X-Linked
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Symptoms & Phenotypes for Reticuloendotheliosis, X-Linked

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Human phenotypes related to Reticuloendotheliosis, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 anemia 31 HP:0001903
2 jaundice 31 HP:0000952
3 lymphadenopathy 31 HP:0002716
4 hepatosplenomegaly 31 HP:0001433

Symptoms via clinical synopsis from OMIM:

56
Heme:
anemia
lymphadenopathy
malignant reticuloendotheliosis

Misc:
infantile onset

G I:
jaundice
hepatosplenomegaly

Clinical features from OMIM:

312500

GenomeRNAi Phenotypes related to Reticuloendotheliosis, X-Linked according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of RLR pathway after Sendai virus (SeV) infection GR00302-A 8.62 REL RELA
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Drugs & Therapeutics for Reticuloendotheliosis, X-Linked

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Drugs for Reticuloendotheliosis, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
2
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
3
ofatumumab Approved Phase 2 679818-59-8 6918251
4 Histone Deacetylase Inhibitors Phase 2
5 Antibodies, Monoclonal Phase 2
6 Immunologic Factors Phase 2
7 Alkylating Agents Phase 2
8 Fluorides Phase 2
9 Fluorodeoxyglucose F18 Phase 2
10 Bendamustine Hydrochloride Phase 2
11 Deoxyglucose Phase 2
12 Radiopharmaceuticals Phase 2
13 Antibodies Phase 2
14 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Trial of Bortezomib and Vorinostat in Mantle Cell and Diffuse Large B-Cell Lymphomas Completed NCT00703664 Phase 2 Bortezomib;Vorinostat
2 A Randomized Phase II Trial of Ofatumumab and Bendamustine vs. Ofatumumab, Bortezomib (NSC # 681239) and Bendamustine in Patients With Untreated Follicular Lymphoma Active, not recruiting NCT01286272 Phase 2 Bendamustine Hydrochloride;Bortezomib

Search NIH Clinical Center for Reticuloendotheliosis, X-Linked

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Genetic Tests for Reticuloendotheliosis, X-Linked

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Anatomical Context for Reticuloendotheliosis, X-Linked

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MalaCards organs/tissues related to Reticuloendotheliosis, X-Linked:

40
Spleen, Lung, T Cells, B Cells, Bone, Monocytes, Bone Marrow
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Publications for Reticuloendotheliosis, X-Linked

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Articles related to Reticuloendotheliosis, X-Linked:

(show top 50) (show all 1089)
# Title Authors PMID Year
1
A fatal x-linked recessive reticuloendothelial syndrome with hyperglobulinemia. X-linked recessive reticuloendotheliosis. 61 56
4199726 1973
2
Effects of gamma-secretase inhibitors on the growth of leukemia cells. 54 61
20332460 2010
3
Impaired expression of peripheral blood apoptotic-related gene transcripts in acute multiple sclerosis relapse. 54 61
17804543 2007
4
Identification of genes related to nasopharyngeal carcinoma with the help of pathway-based networks. 54 61
17151784 2006
5
Gene expression profiling of human placentas from preeclamptic and normotensive pregnancies. 54 61
16556680 2006
6
NFkappaB activity, function, and target-gene signatures in primary mediastinal large B-cell lymphoma and diffuse large B-cell lymphoma subtypes. 54 61
15870177 2005
7
Interaction of the v-rel protein with an NF-kappa B DNA binding site. 54 61
1848011 1991
8
Exosomes derived from human umbilical cord mesenchymal stem cells repair injured endometrial epithelial cells. 61
31938932 2020
9
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD. 61
31286804 2020
10
Detection of Reticuloendotheliosis Virus in Muscovy Ducks, Wild Turkeys, and Chickens in Brazil. 61
31917630 2020
11
Proteome analysis of reticuloendotheliosis-virus-infected chicken embryo fibroblast cells through iTRAQ-based quantitative proteomics. 61
31576460 2019
12
Rice Protein Exerts Anti-Inflammatory Effect in Growing and Adult Rats via Suppressing NF-κB Pathway. 61
31817701 2019
13
Avian Reticuloendotheliosis Viral Oncogene Related B Regulates Lymphatic Endothelial Cells during Vessel Maturation and Is Required for Lymphatic Vessel Function in Adult Mice. 61
31539516 2019
14
Detection and Molecular Characterization of a Natural Coinfection of Marek's Disease Virus and Reticuloendotheliosis Virus in Brazilian Backyard Chicken Flock. 61
31756886 2019
15
The Roles of MicroRNAs (miRNAs) in Avian Response to Viral Infection and Pathogenesis of Avian Immunosuppressive Diseases. 61
31683847 2019
16
Multicentric Round Cell Neoplasms and Their Viral Associations in Wild Turkeys (Meleagris gallopavo) in the Southeastern United States. 61
31345138 2019
17
Serological and molecular identification of Reticuloendotheliosis virus (REV) in chickens in Sudan. 61
31347279 2019
18
Molecular grouping and outcomes of young children with newly diagnosed ependymoma treated on the multi-institutional SJYC07 trial. 61
30976811 2019
19
Transcriptional analysis of host responses related to immunity in chicken spleen tissues infected with reticuloendotheliosis virus strain SNV. 61
31228642 2019
20
A high frequency of Gallid herpesvirus-2 co-infection with Reticuloendotheliosis virusis associated with high tumor rates in Chinese chicken farms. 61
31585637 2019
21
Histologic findings and viral antigen distribution in natural coinfection of layer hens with subgroup J avian leukosis virus, Marek's disease virus, and reticuloendotheliosis virus. 61
31378167 2019
22
Lymphoproliferative Disease Virus in Wild Turkeys (Meleagris gallopavo) from Manitoba and Quebec, Canada. 61
31967435 2019
23
Induction of autophagy through CLEC4E in combination with TLR4: an innovative strategy to restrict the survival of Mycobacterium tuberculosis. 61
31462144 2019
24
Clinical significance of the histological and molecular characteristics of ependymal tumors: a single institution case series from China. 61
31324163 2019
25
Inhibitory Effect of Jing-Fang Powder n-Butanol Extract and Its Isolated Fraction D on Lipopolysaccharide-Induced Inflammation in RAW264.7 Cells. 61
31068381 2019
26
Changes in apoptosis, proliferation and T lymphocyte subtype on thymic cells of SPF chickens infected with reticuloendotheliosis virus. 61
31048099 2019
27
Survey of Reticuloendotheliosis Virus in Wild Turkeys (Meleagris gallopavo) in Texas, USA. 61
30557122 2019
28
Genetic characterization of reticuloendotheliosis virus in chickens in Thailand. 61
30668827 2019
29
Spotlight on avian pathology: fowlpox virus. 61
30507248 2019
30
Proteome and Phosphoproteome Analysis in TNF Long Term-Exposed Primary Human Monocytes. 61
30871024 2019
31
Craniospinal irradiation as part of re-irradiation for children with recurrent intracranial ependymoma. 61
30452715 2019
32
Epidemiological investigation of the novel genotype avian hepatitis E virus and co-infected immunosuppressive viruses in farms with hepatic rupture haemorrhage syndrome, recently emerged in China. 61
30484967 2019
33
Multifunctional miR-155 Pathway in Avian Oncogenic Virus-Induced Neoplastic Diseases. 61
30871221 2019
34
Integrated Analysis of miRNA and mRNA Expression Profiles in Spleen of Specific Pathogen-Free Chicken Infected with Avian Reticuloendotheliosis Virus Strain SNV. 61
30818863 2019
35
Increased Horizontal Transmission of Recombinant Marek's Disease Virus Due to Reticuloendotheliosis Virus Long Terminal Repeat Is the Major Competitive Advantage of the Virus Being a Prevalent Strain. 61
31921027 2019
36
DETECTION OF LYMPHOPROLIFERATIVE DISEASE VIRUS IN CANADA IN A SURVEY FOR VIRUSES IN ONTARIO WILD TURKEYS ( MELEAGRIS GALLOPAVO). 61
30124393 2019
37
Detection of Fowlpox virus carrying distinct genome segments of Reticuloendotheliosis virus. 61
30359622 2019
38
Assessment on reticuloendotheliosis virus infection in specific-pathogen-free chickens based on detection of yolk antibody. 61
31009463 2019
39
Analysis of alternative splicing in chicken embryo fibroblasts in response to reticuloendotheliosis virus infection. 61
30101593 2018
40
Epithelial-to-mesenchymal transition-related transcription factors are up-regulated in ependymomas and correlate with a poor prognosis. 61
30067950 2018
41
A multiplex xTAG assay for the simultaneous detection of five chicken immunosuppressive viruses. 61
30442149 2018
42
Advances and highlights in primary immunodeficiencies in 2017. 61
30170128 2018
43
The molecular basis for host responses to Marek's disease viruses integrated with different retro-viral long terminal repeat. 61
29917138 2018
44
Avian Reticuloendotheliosis in Chickens - An Update on Disease Occurrence and Clinical Course. 61
30584601 2018
45
Isolation and characterization of subgroup J Avian Leukosis virus associated with hemangioma in commercial Hy-Line chickens. 61
29788333 2018
46
Development of reliable techniques for the differential diagnosis of avian tumour viruses by immunohistochemistry and polymerase chain reaction from formalin-fixed paraffin-embedded tissue sections. 61
29533078 2018
47
Molecular characterization of avipoxviruses circulating in Mozambique, 2016-2018. 61
29737408 2018
48
Reticuloendotheliosis virus and avian leukosis virus subgroup J synergistically increase the accumulation of exosomal miRNAs. 61
29970099 2018
49
Loop-mediated isothermal amplification assay for detection of four immunosuppressive viruses in chicken. 61
29476761 2018
50
Co-infection of fowl adenovirus with different immunosuppressive viruses in a chicken flock. 61
29509913 2018
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Variations for Reticuloendotheliosis, X-Linked

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Expression for Reticuloendotheliosis, X-Linked

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Search GEO for disease gene expression data for Reticuloendotheliosis, X-Linked.
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Pathways for Reticuloendotheliosis, X-Linked

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Pathways related to Reticuloendotheliosis, X-Linked according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways 65
Show member pathways
 12.37 RELA REL
2
Ras signaling pathway 36
Show member pathways
 12.35 RELA REL
3
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.34 RELA REL
4
NF-KappaB Family Pathway 63
Show member pathways
 12.32 RELA REL
5
4-1BB Pathway 63
Show member pathways
 12.29 RELA REL
6
Immune response NFAT in immune response 22
Show member pathways
 12.25 RELA REL
7
T cell receptor signaling pathway 36
Show member pathways
 12.23 RELA REL
8
Immune response IL-23 signaling pathway 22
Show member pathways
 12.22 RELA REL
9
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.22 RELA REL
10
NF-kappaB Signaling 4
12.2 RELA REL
11
Development ERBB-family signaling 22
Show member pathways
 12.17 RELA REL
12
Prolactin Signaling Pathway 1 36
Show member pathways
 12.13 RELA REL
13
B cell receptor signaling pathway (KEGG) 1
Show member pathways
 12.07 RELA REL
14
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.06 RELA REL
15
Development IGF-1 receptor signaling 22
Show member pathways
 12.05 RELA REL
16
IL-17 Family Signaling Pathways 64
Show member pathways
 12 RELA REL
17
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 11.99 RELA REL
18
Development A3 receptor signaling 22
Show member pathways
 11.98 RELA REL
19
IL-1 signaling pathway 1
Show member pathways
 11.96 RELA REL
20
Viral carcinogenesis 36
11.95 RELA REL
21
Diseases associated with the TLR signaling cascade 65
Show member pathways
 11.92 RELA REL
22
Transcriptional misregulation in cancer 36
11.91 RELA REL
23
IL-1 Family Signaling Pathways 64
Show member pathways
 11.88 RELA REL
24
C-type lectin receptor signaling pathway 36
Show member pathways
 11.86 RELA REL
25
Development NOTCH1-mediated pathway for NF-KB activity modulation 22
Show member pathways
 11.85 RELA REL
26
GDNF-Family Ligands and Receptor Interactions 63
Show member pathways
 11.83 RELA REL
27
Bacterial infections in CF airways 22
Show member pathways
 11.82 RELA REL
28
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 11.76 RELA REL
29
Development A2A receptor signaling 22
Show member pathways
 11.68 RELA REL
30
IL12-mediated signaling events 1
Show member pathways
 11.62 RELA REL
31
TGF-beta Signaling Pathways 64
11.54 RELA REL
32
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.52 RELA REL
33
Inhibitory action of Lipoxins on Superoxide production in neutrophils 22
Show member pathways
 11.5 RELA REL
34
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.37 RELA REL
35
Transcription_P53 signaling pathway 22
11.36 RELA REL
36
Development_TGF-beta receptor signaling 22
11.35 RELA REL
37
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.28 RELA REL
38
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.27 RELA REL
39
Transcriptional Regulatory Network in Embryonic Stem Cell 63
11.21 RELA REL
40
A-beta Signaling Pathways 64
11.2 RELA REL
41
Transcription_NF-kB signaling pathway 22
11.17 RELA REL
42
Proteolysis Putative SUMO-1 pathway 22
Show member pathways
 11.14 RELA REL
43
Cellular Transformation by HTLV1 63
Show member pathways
 11.07 RELA REL
44
Tacrolimus/Cyclosporine Pathway, Pharmacodynamics 60
10.97 RELA REL
45
DNA damage_ATM/ATR regulation of G1/S checkpoint 22
10.9 RELA REL
46
Telomere Extension by Telomerase 63
Show member pathways
 10.85 RELA REL
47
Development_Glucocorticoid receptor signaling 22
10.77 RELA REL
48
Immune response_IL-6 signaling pathway 22
10.47 RELA REL
49
Atypical NF-kappaB pathway 1
9.77 RELA REL
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GO Terms for Reticuloendotheliosis, X-Linked

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Cellular components related to Reticuloendotheliosis, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 RELA REL

Biological processes related to Reticuloendotheliosis, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.32 RELA REL
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.26 RELA REL
3 NIK/NF-kappaB signaling GO:0038061 9.16 RELA REL
4 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.96 RELA REL
5 response to cytokine GO:0034097 8.62 RELA REL

Molecular functions related to Reticuloendotheliosis, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.26 RELA REL
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.16 RELA REL
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.96 RELA REL
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 8.62 RELA REL
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Sources for Reticuloendotheliosis, X-Linked

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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