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MCID: RTC012
MIFTS: 35

Reticuloendotheliosis, X-Linked

Categories: Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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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 57 20
Reticuloendotheliosis 20 54

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 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 histoplasmosis 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 Ras signaling pathway and Downstream signaling events of B Cell Receptor (BCR). Affiliated tissues include spleen, bone marrow and bone, and related phenotypes are anemia and jaundice

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 88)
# Related Disease Score Top Affiliating Genes
1 histoplasmosis 11.2
2 omenn syndrome 11.2
3 hairy cell leukemia 11.2
4 intrapelvic lymph node leukemic reticuloendotheliosis 11.2
5 classic hairy cell leukemia 11.2
6 letterer-siwe disease 10.4
7 lymphoma 10.4
8 melanoma tumor antigen gp90 10.4
9 leukemia 10.3
10 acute leukemia 10.2
11 newcastle disease 10.2
12 hypereosinophilic syndrome 10.2
13 splenomegaly 10.2
14 histiocytosis 10.2
15 avian influenza 10.2
16 langerhans cell histiocytosis 10.1
17 deficiency anemia 10.1
18 mycosis fungoides 10.1
19 monocytic leukemia 10.1
20 leukemia, chronic lymphocytic 10.0
21 neutropenia 10.0
22 pancytopenia 10.0
23 diarrhea 10.0
24 thrombocytopenia 10.0
25 hemolytic anemia 10.0
26 hypersplenism 10.0
27 stomatitis 10.0
28 granulocytopenia 10.0
29 lymphosarcoma 10.0
30 marek disease 10.0
31 acute erythroid leukemia 9.9
32 bacterial infectious disease 9.9
33 sarcoma 9.9
34 gaucher's disease 9.9
35 spindle cell sarcoma 9.9
36 b-cell lymphoma 9.9
37 vasculitis 9.9
38 follicular mucinosis 9.9
39 eosinophilia, familial 9.8
40 keratitis, hereditary 9.8
41 sarcoidosis 1 9.8
42 torticollis 9.8
43 anemia, autoimmune hemolytic 9.8
44 hemophagocytic lymphohistiocytosis, familial, 1 9.8
45 reticulum cell sarcoma 9.8
46 sjogren syndrome 9.8
47 retinitis pigmentosa 13 9.8
48 legionnaire disease 9.8
49 human immunodeficiency virus type 1 9.8
50 laryngotracheitis 9.8

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®:

57 (Updated 05-Mar-2021)
Heme:
anemia
lymphadenopathy
malignant reticuloendotheliosis

Misc:
infantile onset

G I:
jaundice
hepatosplenomegaly

Clinical features from OMIM®:

312500 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Reticuloendotheliosis, X-Linked

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Search Clinical Trials , 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, Bone Marrow, Bone, Brain, T Cells, Skin, Endothelial
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Publications for Reticuloendotheliosis, X-Linked

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Articles related to Reticuloendotheliosis, X-Linked:

(show top 50) (show all 1123)
# Title Authors PMID Year
1
A fatal x-linked recessive reticuloendothelial syndrome with hyperglobulinemia. X-linked recessive reticuloendotheliosis. 57 61
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. 61 54
17804543 2007
4
Identification of genes related to nasopharyngeal carcinoma with the help of pathway-based networks. 61 54
17151784 2006
5
Gene expression profiling of human placentas from preeclamptic and normotensive pregnancies. 61 54
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
Identification of Common Pathogenetic Processes between Schizophrenia and Diabetes Mellitus by Systems Biology Analysis. 61
33562405 2021
9
Advances in the classification and treatment of pediatric brain tumors. 61
33278109 2021
10
An outbreak in three-yellow chickens with clinical tumors of high mortality caused by the coinfection of reticuloendotheliosis virus and Marek's disease virus: a speculated reticuloendotheliosis virus contamination plays an important role in the case. 61
33357681 2021
11
Changes in oxidation-antioxidation function on the thymus of chickens infected with reticuloendotheliosis virus. 61
33308224 2020
12
An atypical clinicopathological manifestation of fowlpox virus associated with reticuloendotheliosis virus in commercial laying hen flocks in Brazil. 61
32519513 2020
13
MMP9, CXCR1, TLR6, and MPO participant in the progression of coronary artery disease. 61
32052443 2020
14
Gene expression profiling of sepsis-associated acute kidney injury. 61
32952625 2020
15
An optimized secretory expression system and immunogenicity evaluation for glycosylated gp90 of avian reticuloendotheliosis virus. 61
33076991 2020
16
Examination of genetic and pharmacological tools to study the proteasomal deubiquitinating enzyme ubiquitin-specific protease 14 in the nervous system. 61
32901953 2020
17
Two Cases of Marek's Disease in Backyard Turkeys. 61
33205183 2020
18
Prevention of Avian Retrovirus Infection in Chickens Using CRISPR-Cas9 Delivered by Marek's Disease Virus. 61
32650233 2020
19
A Novel RELA Truncating Mutation in a Familial Behçet's Disease-like Mucocutaneous Ulcerative Condition. 61
32969189 2020
20
Molecular Detection of Reticuloendotheliosis Virus 5' Long Terminal Repeat Integration in the Genome of Avipoxvirus Field Strains from Different Avian Species in Egypt. 61
32878059 2020
21
First report on molecular characterization and phylogenetic analysis of Reticuloendotheliosis virus in Sudan. 61
32040658 2020
22
Detection of Reticuloendotheliosis Virus in Muscovy Ducks, Wild Turkeys, and Chickens in Brazil. 61
31917630 2020
23
Emergence of spontaneously occurring neoplastic disease caused by reticuloendotheliosis virus in breeding Muscovy ducks in China, 2019. 61
32068970 2020
24
Safety and Efficacy Evaluation of Recombinant Marek's Disease Virus with REV-LTR. 61
32698460 2020
25
Changes in the Percentages of B- and T-Lymphocytes and Antibody Titres in Laying Hens Infested with Dermanyssus gallinae-A Preliminary Study. 61
32517104 2020
26
Genetic variability of the Avian leukosis virus subgroup J gp85 gene in layer flocks in Lower Egypt. 61
32801556 2020
27
Induction of autophagy through CLEC4E in combination with TLR4: an innovative strategy to restrict the survival of Mycobacterium tuberculosis. 61
31462144 2020
28
Propofol improves intestinal ischemia-reperfusion injury in rats through NF-κB pathway. 61
32572944 2020
29
Gut microbiota profiles of commercial laying hens infected with tumorigenic viruses. 61
32600312 2020
30
Avian leukosis virus subgroup J and reticuloendotheliosis virus coinfection induced TRIM62 regulation of the actin cytoskeleton. 61
32476322 2020
31
Isolation and pathogenicity testing of avian reticuloendotheliosis virus from layer chickens in China. 61
32233842 2020
32
Feed‑back loops integrating RELA, SOX18 and FAK mediate the break‑down of the lymph‑endothelial barrier that is triggered by 12(S)‑HETE. 61
32319559 2020
33
Potential Role of Macrophage Migration Inhibitory Factor in the Pathogenesis of Marek's Disease. 61
32258797 2020
34
Regulatory mechanism of microRNA-155 in chicken embryo fibroblasts in response to reticuloendotheliosis virus infection. 61
32122614 2020
35
Exosomes derived from human umbilical cord mesenchymal stem cells repair injured endometrial epithelial cells. 61
31938932 2020
36
Novel Cyclovirus Identified in Broiler Chickens With Transmissible Viral Proventriculitis in China. 61
33134354 2020
37
Ceramide Pathway Regulators Predict Clinical Prognostic Risk and Affect the Tumor Immune Microenvironment in Lung Adenocarcinoma. 61
33194633 2020
38
Development and Application of an MRT-qPCR Assay for Detecting Coinfection of Six Vertically Transmitted or Immunosuppressive Avian Viruses. 61
32765453 2020
39
TRIM62 From Chicken as a Negative Regulator of Reticuloendotheliosis Virus Replication. 61
32318585 2020
40
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD. 61
31286804 2020
41
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
42
Proteome analysis of reticuloendotheliosis-virus-infected chicken embryo fibroblast cells through iTRAQ-based quantitative proteomics. 61
31576460 2019
43
Rice Protein Exerts Anti-Inflammatory Effect in Growing and Adult Rats via Suppressing NF-κB Pathway. 61
31817701 2019
44
Multicentric Round Cell Neoplasms and Their Viral Associations in Wild Turkeys (Meleagris gallopavo) in the Southeastern United States. 61
31345138 2019
45
The Roles of MicroRNAs (miRNAs) in Avian Response to Viral Infection and Pathogenesis of Avian Immunosuppressive Diseases. 61
31683847 2019
46
Serological and molecular identification of Reticuloendotheliosis virus (REV) in chickens in Sudan. 61
31347279 2019
47
Detection and Molecular Characterization of a Natural Coinfection of Marek's Disease Virus and Reticuloendotheliosis Virus in Brazilian Backyard Chicken Flock. 61
31756886 2019
48
A high frequency of Gallid herpesvirus-2 co-infection with Reticuloendotheliosis virusis associated with high tumor rates in Chinese chicken farms. 61
31585637 2019
49
Transcriptional analysis of host responses related to immunity in chicken spleen tissues infected with reticuloendotheliosis virus strain SNV. 61
31228642 2019
50
Molecular grouping and outcomes of young children with newly diagnosed ependymoma treated on the multi-institutional SJYC07 trial. 61
30976811 2019
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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 48)
# Super pathways Score Top Affiliating Genes
1
Ras signaling pathway 36
Show member pathways
 12.35 RELA REL
2
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.34 RELA REL
3
Toll-Like receptor Signaling Pathways 64
Show member pathways
 12.33 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 23
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 23
Show member pathways
 12.22 RELA REL
9
Immune response Fc epsilon RI pathway 23
Show member pathways
 12.21 RELA REL
10
NF-kappaB Signaling 4
12.19 RELA REL
11
VEGF Signaling 66
Show member pathways
 12.14 RELA REL
12
Prolactin Signaling Pathway 1 36
Show member pathways
 12.12 RELA REL
13
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.1 RELA REL
14
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.06 RELA REL
15
Development VEGF signaling via VEGFR2 - generic cascades 23
Show member pathways
 12.05 RELA REL
16
Development IGF-1 receptor signaling 23
Show member pathways
 12.04 RELA REL
17
IL-17 Family Signaling Pathways 64
Show member pathways
 11.99 RELA REL
18
Development A3 receptor signaling 23
Show member pathways
 11.98 RELA REL
19
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 11.97 RELA REL
20
Development ERBB-family signaling 23
Show member pathways
 11.96 RELA REL
21
Viral carcinogenesis 36
11.95 RELA REL
22
IL-1 signaling pathway 1
Show member pathways
 11.95 RELA REL
23
Transcriptional misregulation in cancer 36
11.92 RELA REL
24
Diseases associated with the TLR signaling cascade 65
Show member pathways
 11.91 RELA REL
25
C-type lectin receptor signaling pathway 36
Show member pathways
 11.86 RELA REL
26
Development NOTCH1-mediated pathway for NF-KB activity modulation 23
Show member pathways
 11.84 RELA REL
27
GDNF-Family Ligands and Receptor Interactions 63
Show member pathways
 11.83 RELA REL
28
Bacterial infections in CF airways 23
Show member pathways
 11.82 RELA REL
29
Development A2B receptor- action via G-protein alpha s 23
Show member pathways
 11.67 RELA REL
30
IL12-mediated signaling events 1
Show member pathways
 11.61 RELA REL
31
TGF-beta Signaling Pathways 64
11.53 RELA REL
32
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.5 RELA REL
33
Inhibitory action of Lipoxins on Superoxide production in neutrophils 23
Show member pathways
 11.49 RELA REL
34
Transcription_P53 signaling pathway 23
11.36 RELA REL
35
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.36 RELA REL
36
Development_TGF-beta receptor signaling 23
11.33 RELA REL
37
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.26 RELA REL
38
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.26 RELA REL
39
Transcriptional Regulatory Network in Embryonic Stem Cell 63
11.21 RELA REL
40
Transcription_NF-kB signaling pathway 23
11.17 RELA REL
41
Proteolysis Putative SUMO-1 pathway 23
Show member pathways
 11.14 RELA REL
42
Cellular Transformation by HTLV1 63
Show member pathways
 11.08 RELA REL
43
Tacrolimus/Cyclosporine Pathway, Pharmacodynamics 60
10.97 RELA REL
44
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
10.9 RELA REL
45
Telomere Extension by Telomerase 63
Show member pathways
 10.83 RELA REL
46
Development_Glucocorticoid receptor signaling 23
10.77 RELA REL
47
Immune response_IL-6 signaling pathway 23
10.47 RELA REL
48
Atypical NF-kappaB pathway 1
9.77 RELA REL
Sources

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 8.96 RELA REL
2 host cell nucleus GO:0042025 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 9.37 RELA REL
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.32 RELA REL
3 NIK/NF-kappaB signaling GO:0038061 9.26 RELA REL
4 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.16 RELA REL
5 response to cytokine GO:0034097 8.96 RELA REL
6 cellular response to stress GO:0033554 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 sequence-specific DNA binding GO:0043565 8.96 RELA REL
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.62 RELA REL
Sources

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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