XMEN
MCID: IMM026
MIFTS: 47

Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia (XMEN)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

MalaCards integrated aliases for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

Name: Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 57 20 43 29 6
Xmen 57 12 20 43 58 72
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 57 72 13 39
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 12 43 15
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 20 58 70
Combined Immunodeficiency Due to Magt1 Deficiency 20 58
Cid Due to Magt1 Deficiency 20 58
X-Linked Magnesium Deficiency with Epstein-Barr Virus Infection and Neoplasia 20

Characteristics:

Orphanet epidemiological data:

58
x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in early childhood
oral magnesium supplementation may be therapeutic

Inheritance:
x-linked recessive


HPO:

31
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia:
Onset and clinical course juvenile onset young adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

MedlinePlus Genetics : 43 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells recognize foreign invaders, such as viruses, bacteria, and fungi, and are then turned on (activated) to attack these invaders in order to prevent infection and illness. Because males with XMEN do not have enough functional T cells, they have frequent infections, such as ear infections, sinus infections, and pneumonia.In particular, affected individuals are vulnerable to the Epstein-Barr virus (EBV). EBV is a very common virus that infects more than 90 percent of the general population and in most cases goes unnoticed. Normally, after initial infection, EBV remains in the body for the rest of a person's life. However, the virus is generally inactive (latent) because it is controlled by T cells. In males with XMEN, however, the T cells cannot control the virus, and EBV infection can lead to cancers of immune system cells (lymphomas). The word "neoplasia" in the condition name refers to these lymphomas; neoplasia is a general term meaning abnormal growths of tissue. The EBV infection itself usually does not cause any other symptoms in males with XMEN, and affected individuals may not come to medical attention until they develop lymphoma.

MalaCards based summary : Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia, also known as xmen, is related to congenital disorder of glycosylation, type in and lymphopenia. An important gene associated with Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia is MAGT1 (Magnesium Transporter 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include t cells, bone marrow and myeloid, and related phenotypes are splenomegaly and recurrent otitis media

Disease Ontology : 12 A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has material basis in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1).

GARD : 20 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) is a rare inherited disorder that affects the immune system. It has been reported in very few patients to date and has only been diagnosed in males. In XMEN, the number of T cells, a type of immune cell, are decreased or don't work right. Because there are not enough T cells, males with XMEN may have more frequent infections. In addition, they are more likely to get sick from Epstein-Barr virus (EBV), a common virus found in most people. Typically, only people with immune systems that don't' work well can develop symptoms from an EBV infection. In males with XMEN, EBV infections lead to abnormal growth of lymph cells and cancer of the lymph system ( l ymphoma ). XMEN is caused by mutations in the MAGT1 gene, that controls how magnesium gets in and out of the body's cells. It is inherited in an X-linked pattern in families. XMEN is diagnosed based on the symptoms, and genetic testing for MAGT1 mutations can also be helpful. Treatment for XMEN may include magnesium supplements, chemotherapy for lymphoma, and possible stem cell transplant. Because XMEN has only been diagnosed in a few patients, the long-term outlook for males with XMEN is unknown.

OMIM® : 57 XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic EBV infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014). (300853) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia: A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation.

Wikipedia : 73 XMEN disease is a rare genetic disorder of the immune system that illustrates the role of Mg2+ in cell... more...

Related Diseases for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Diseases related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 30.3 TUSC3 STT3B MAGT1
2 lymphopenia 30.2 MAGT1 ITK CORO1A
3 autoimmune lymphoproliferative syndrome 29.7 SH2D1A MAGT1 CD8A
4 lymphoproliferative syndrome 29.5 SLAMF6 SH2D1A ITK
5 dysgammaglobulinemia 29.5 SLAMF6 SH2D1A MAGT1 CD8A
6 otitis media 10.5
7 cd4/cd8 t-cell ratio 10.5
8 thrombocytopenia 10.5
9 hemolytic anemia 10.5
10 monkeypox 10.2 KLRK1 CD8A
11 alopecia universalis congenita 10.2 KLRK1 CD8A
12 alveolar echinococcosis 10.1 KLRK1 CD8A
13 immune deficiency disease 10.1
14 lymphoproliferative syndrome 1 10.1 SH2D1A ITK
15 acute hemorrhagic encephalitis 10.1 SH2D1A CD8A
16 lymphoproliferative syndrome, x-linked, 2 10.0 SH2D1A ITK
17 lymphoma 10.0
18 granulomatous disease, chronic, autosomal recessive, 1 9.9 STT3B KRTCAP2
19 vasculitis 9.9
20 molluscum contagiosum 9.9
21 congenital disorders of n-linked glycosylation and multiple pathway 9.9
22 autosomal recessive non-syndromic intellectual disability 9.9 TUSC3 STT3B MAGT1 KRTCAP2
23 immunodeficiency 41 with lymphoproliferation and autoimmunity 9.9 DOCK8 CD8A
24 immunodeficiency 13 9.9 MAGT1 DOCK8
25 pancytopenia 9.9 SH2D1A ITK CD8A
26 immunodeficiency with hyper-igm, type 3 9.9 DOCK8 CD8A
27 immunodeficiency 21 9.9 MAGT1 DOCK8
28 chickenpox 9.8 DOCK8 CD8A
29 immunodeficiency 40 9.7 DOCK8 CORO1A
30 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.7 DOCK8 CD8A
31 lymphoproliferative syndrome, x-linked, 1 9.7 SLAMF6 SH2D1A MAGT1 ITK
32 selective immunoglobulin deficiency disease 9.6 SLAMF6 SH2D1A MAGT1 CD8A
33 t cell deficiency 9.6 DOCK8 CORO1A CD8A
34 cd40 ligand deficiency 9.6 SH2D1A DOCK8 CD8A
35 pfeiffer syndrome 9.6 SLAMF6 SH2D1A PLCG1 CD8A
36 coronin-1a deficiency 9.6 MAGT1 ITK DOCK8 CORO1A
37 bare lymphocyte syndrome, type i 9.6 SLAMF6 DOCK8 CD8A
38 nail disease 9.6 DOCK8 CD8A
39 omenn syndrome 9.5 MAGT1 DOCK8 CORO1A CD8A
40 b cell deficiency 9.5 SH2D1A ITK DOCK8 CD8A
41 epidermodysplasia verruciformis 1 9.5 ITK DOCK8 CORO1A CD8A
42 combined immunodeficiency 9.4 MAGT1 KLRK1 DOCK8 CORO1A CD8A
43 lymphoproliferative syndrome 2 9.1 SLAMF6 SH2D1A MAGT1 KLRK1 ITK CORO1A

Graphical network of the top 20 diseases related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:



Diseases related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia

Symptoms & Phenotypes for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Human phenotypes related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 recurrent otitis media 31 very rare (1%) HP:0000403
3 mediastinal lymphadenopathy 31 very rare (1%) HP:0100721
4 bronchiectasis 31 very rare (1%) HP:0002110
5 recurrent bronchitis 31 very rare (1%) HP:0002837
6 b-cell lymphoma 31 very rare (1%) HP:0012191
7 autoimmune thrombocytopenia 31 very rare (1%) HP:0001973
8 recurrent sinusitis 31 very rare (1%) HP:0011108
9 hodgkin lymphoma 31 very rare (1%) HP:0012189
10 lymphoproliferative disorder 31 very rare (1%) HP:0005523
11 severe varicella zoster infection 31 very rare (1%) HP:0032170
12 decreased proportion of cd4-positive helper t cells 31 very rare (1%) HP:0005407
13 persistent ebv viremia 31 very rare (1%) HP:0020072
14 decreased cd69 upregulation upon tcr activation 31 very rare (1%) HP:0031268
15 chronic active epstein-barr virus infection 31 very rare (1%) HP:0032204
16 persistent cmv viremia 31 very rare (1%) HP:0032247
17 decreased cd4:cd8 ratio 31 very rare (1%) HP:0033222
18 immunodeficiency 31 HP:0002721
19 recurrent viral infections 31 HP:0004429
20 decreased t cell activation 31 HP:0005419
21 decreased specific anti-polysaccharide antibody level 31 HP:0002848

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Respiratory:
respiratory infections, recurrent, bacterial and viral

Neoplasia:
increased susceptibility to ebv-associated b-cell lymphoproliferative disorders

Immunology:
recurrent infections
chronic ebv infection
increased susceptibility to viral infections, variable
decreased cd4+ t cells
inverted cd4+/cd8+ ratio
more
Hematology:
autoimmune cytopenias (in some patients)

Laboratory Abnormalities:
type 1 pattern of abnormal serum transferrin isoelectic focusing consistent with a glycosylation defect

Clinical features from OMIM®:

300853 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.28 CD8A CORO1A DOCK8 ITK MAGT1 PLCG1

Drugs & Therapeutics for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Placebo-controlled, Crossover Study of Magnesium Supplementation in Patients With XMEN Syndrome Completed NCT02496676 Phase 1, Phase 2

Search NIH Clinical Center for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia

Genetic Tests for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Genetic tests related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

# Genetic test Affiliating Genes
1 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 29 MAGT1

Anatomical Context for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

MalaCards organs/tissues related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

40
T Cells, Bone Marrow, Myeloid

Publications for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Articles related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

(show all 27)
# Title Authors PMID Year
1
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. 57 6 61
31036665 2019
2
A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. 61 6 57
25956530 2015
3
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease. 57 6 61
25504528 2015
4
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. 57 6 61
24550228 2014
5
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. 6 57
21796205 2011
6
Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN). 20 61
25205404 2015
7
The role of MAGT1 in genetic syndromes. 61 20
26422833 2015
8
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. 61 20
25313976 2014
9
Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. 57
23846901 2013
10
Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties. 57
15804357 2005
11
MAGT1 messenger RNA-corrected autologous T and natural killer cells for potential cell therapy in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease. 61
33051095 2021
12
Magnesium in Infectious Diseases in Older People. 61
33435521 2021
13
Magnesium levels and outcome after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia. 61
33341918 2020
14
Magnesium: The overlooked electrolyte in blood cancers? 61
32229066 2020
15
An Update on XMEN Disease. 61
32451662 2020
16
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype. 61
31865525 2020
17
The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations. 61
31993868 2020
18
XMEN: welcome to the glycosphere. 61
31815737 2020
19
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. 61
31714901 2020
20
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes. 61
31337704 2019
21
Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered. 61
30470981 2019
22
Plasma magnesium is inversely associated with Epstein-Barr virus load in peripheral blood and Burkitt lymphoma in Uganda. 61
29248801 2018
23
[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review]. 61
29342998 2018
24
Cobalt cage complexes as mediators of protein electron transfer. 61
28032200 2017
25
An Update on the Use of Immunomodulators in Primary Immunodeficiencies. 61
27873163 2017
26
Genomics of Immune Diseases and New Therapies. 61
26735698 2016
27
Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency. 61
21983175 2011

Variations for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

ClinVar genetic disease variations for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAGT1 NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter) SNV Pathogenic 976322 GRCh37: X:77086346-77086346
GRCh38: X:77830849-77830849
2 MAGT1 NM_001367916.1(MAGT1):c.127C>T (p.Gln43Ter) SNV Pathogenic 539316 rs1557217723 GRCh37: X:77131070-77131070
GRCh38: X:77875573-77875573
3 MAGT1 NM_001367916.1(MAGT1):c.348dup (p.Ala117fs) Duplication Pathogenic 578831 rs1569548146 GRCh37: X:77126346-77126347
GRCh38: X:77870849-77870850
4 MAGT1 NM_001367916.1(MAGT1):c.676_680del (p.Phe226fs) Deletion Pathogenic 662023 rs1603361606 GRCh37: X:77111080-77111084
GRCh38: X:77855583-77855587
5 MAGT1 NM_001367916.1(MAGT1):c.502del (p.Arg168fs) Deletion Pathogenic 689408 rs1603361795 GRCh37: X:77112883-77112883
GRCh38: X:77857386-77857386
6 MAGT1 NM_001367916.1(MAGT1):c.616C>T (p.Arg206Ter) SNV Pathogenic 689409 rs879989957 GRCh37: X:77112286-77112286
GRCh38: X:77856789-77856789
7 MAGT1 NM_001367916.1(MAGT1):c.459dup (p.Tyr154fs) Duplication Pathogenic 689410 rs1603361804 GRCh37: X:77112925-77112926
GRCh38: X:77857428-77857429
8 MAGT1 NM_001367916.1(MAGT1):c.313C>T (p.Arg105Ter) SNV Pathogenic 29982 rs387906724 GRCh37: X:77126382-77126382
GRCh38: X:77870885-77870885
9 MAGT1 NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter) SNV Pathogenic 419298 rs200934080 GRCh37: X:77150894-77150894
GRCh38: X:77895397-77895397
10 MAGT1 NM_001367916.1(MAGT1):c.641_642insGA (p.Phe214fs) Insertion Pathogenic 649134 rs1603361729 GRCh37: X:77112260-77112261
GRCh38: X:77856763-77856764
11 MAGT1 NM_001367916.1(MAGT1):c.826_826+9del Deletion Pathogenic 29981 rs1603361427 GRCh37: X:77109389-77109398
GRCh38: X:77853892-77853901
12 MAGT1 NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter) SNV Pathogenic 625838 rs1569547878 GRCh37: X:77096802-77096802
GRCh38: X:77841305-77841305
13 MAGT1 NM_001367916.1(MAGT1):c.399del (p.Met133fs) Deletion Likely pathogenic 656224 rs1603361811 GRCh37: X:77112986-77112986
GRCh38: X:77857489-77857489
14 MAGT1 NM_032121.5(MAGT1):c.368+1G>C SNV Likely pathogenic 844382 GRCh37: X:77130924-77130924
GRCh38: X:77875427-77875427
15 MAGT1 NM_001367916.1(MAGT1):c.827-1_838del Deletion Likely pathogenic 657752 rs1603359848 GRCh37: X:77096806-77096818
GRCh38: X:77841309-77841321
16 MAGT1 NM_001367916.1(MAGT1):c.958A>G (p.Ile320Val) SNV Uncertain significance 956187 GRCh37: X:77086336-77086336
GRCh38: X:77830839-77830839
17 MAGT1 NM_001367916.1(MAGT1):c.-10A>T SNV Uncertain significance 970093 GRCh37: X:77150917-77150917
GRCh38: X:77895420-77895420
18 overlap with 4 genes NC_000023.10:g.(?_77084697)_(77264780_?)dup Duplication Uncertain significance 832502 GRCh37: X:77084697-77264780
GRCh38:
19 MAGT1 NC_000023.10:g.(?_77084697)_(77131114_?)dup Duplication Uncertain significance 539317 GRCh37: X:77084697-77131114
GRCh38:
20 MAGT1 NC_000023.10:g.(?_77150786)_(77151023_?)dup Duplication Uncertain significance 831917 GRCh37: X:77150786-77151023
GRCh38:
21 MAGT1 NM_001367916.1(MAGT1):c.-5C>T SNV Uncertain significance 644106 rs199604767 GRCh37: X:77150912-77150912
GRCh38: X:77895415-77895415
22 MAGT1 NM_001367916.1(MAGT1):c.849G>A (p.Met283Ile) SNV Uncertain significance 972145 GRCh37: X:77096795-77096795
GRCh38: X:77841298-77841298
23 MAGT1 NM_001367916.1(MAGT1):c.992+1G>A SNV Uncertain significance 471946 rs1557213306 GRCh37: X:77086301-77086301
GRCh38: X:77830804-77830804
24 MAGT1 NM_001367916.1(MAGT1):c.10C>T (p.Arg4Cys) SNV Uncertain significance 969938 GRCh37: X:77150898-77150898
GRCh38: X:77895401-77895401
25 MAGT1 NM_032121.5(MAGT1):c.71C>A (p.Ser24Ter) SNV Uncertain significance 1018147 GRCh37: X:77150933-77150933
GRCh38: X:77895436-77895436
26 MAGT1 NC_000023.10:g.(?_77150786)_(77151023_?)dup Duplication Uncertain significance 1025365 GRCh37: X:77150786-77151023
GRCh38:
27 MAGT1 NM_032121.5(MAGT1):c.58C>T (p.Arg20Trp) SNV Uncertain significance 539315 rs370329684 GRCh37: X:77150946-77150946
GRCh38: X:77895449-77895449
28 MAGT1 NM_001367916.1(MAGT1):c.763-10T>A SNV Uncertain significance 933570 GRCh37: X:77109471-77109471
GRCh38: X:77853974-77853974
29 MAGT1 NM_001367916.1(MAGT1):c.160A>G (p.Ile54Val) SNV Uncertain significance 959972 GRCh37: X:77131037-77131037
GRCh38: X:77875540-77875540
30 MAGT1 NC_000023.10:g.(?_77084717)_(77131114_?)dup Duplication Uncertain significance 1036771 GRCh37: X:77084717-77131114
GRCh38:
31 MAGT1 NM_001367916.1(MAGT1):c.89A>G (p.Gln30Arg) SNV Uncertain significance 1039528 GRCh37: X:77150819-77150819
GRCh38: X:77895322-77895322
32 MAGT1 NM_032121.5(MAGT1):c.56G>T (p.Ser19Ile) SNV Uncertain significance 1043939 GRCh37: X:77150948-77150948
GRCh38: X:77895451-77895451
33 MAGT1 NM_001367916.1(MAGT1):c.753G>A (p.Thr251=) SNV Uncertain significance 1045158 GRCh37: X:77111007-77111007
GRCh38: X:77855510-77855510
34 MAGT1 NM_001367916.1(MAGT1):c.148A>G (p.Lys50Glu) SNV Uncertain significance 1046292 GRCh37: X:77131049-77131049
GRCh38: X:77875552-77875552
35 MAGT1 NM_001367916.1(MAGT1):c.736C>T (p.His246Tyr) SNV Uncertain significance 844433 GRCh37: X:77111024-77111024
GRCh38: X:77855527-77855527
36 MAGT1 NM_001367916.1(MAGT1):c.265G>A (p.Val89Ile) SNV Uncertain significance 937525 GRCh37: X:77130932-77130932
GRCh38: X:77875435-77875435
37 MAGT1 NM_001367916.1(MAGT1):c.154C>T (p.Pro52Ser) SNV Uncertain significance 960378 GRCh37: X:77131043-77131043
GRCh38: X:77875546-77875546
38 MAGT1 NM_001367916.1(MAGT1):c.902-6C>G SNV Uncertain significance 1059017 GRCh37: X:77086398-77086398
GRCh38: X:77830901-77830901
39 MAGT1 NM_001367916.1(MAGT1):c.397A>T (p.Met133Leu) SNV Uncertain significance 652043 rs782043620 GRCh37: X:77112988-77112988
GRCh38: X:77857491-77857491
40 MAGT1 NM_001367916.1(MAGT1):c.583C>T (p.Leu195Phe) SNV Uncertain significance 659303 rs782783057 GRCh37: X:77112319-77112319
GRCh38: X:77856822-77856822
41 MAGT1 NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val) SNV Uncertain significance 930698 GRCh37: X:77112954-77112954
GRCh38: X:77857457-77857457
42 MAGT1 NM_032121.5(MAGT1):c.65_66del (p.Lys22fs) Deletion Likely benign 573122 rs782474570 GRCh37: X:77150938-77150939
GRCh38: X:77895441-77895442
43 MAGT1 NM_001367916.1(MAGT1):c.449G>A (p.Arg150Gln) SNV Likely benign 746999 rs1032635187 GRCh37: X:77112936-77112936
GRCh38: X:77857439-77857439
44 MAGT1 NM_001367916.1(MAGT1):c.207G>A (p.Pro69=) SNV Benign 747113 rs782428049 GRCh37: X:77130990-77130990
GRCh38: X:77875493-77875493
45 MAGT1 NM_001367916.1(MAGT1):c.17G>C (p.Arg6Pro) SNV Benign 749661 rs137932369 GRCh37: X:77150891-77150891
GRCh38: X:77895394-77895394
46 MAGT1 NM_001367916.1(MAGT1):c.-16A>G SNV Benign 778983 rs191382595 GRCh37: X:77150923-77150923
GRCh38: X:77895426-77895426
47 MAGT1 NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) SNV Benign 96213 rs145245774 GRCh37: X:77086362-77086362
GRCh38: X:77830865-77830865
48 MAGT1 NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) SNV Benign 96214 rs140854076 GRCh37: X:77150892-77150892
GRCh38: X:77895395-77895395
49 MAGT1 NM_001367916.1(MAGT1):c.651T>A (p.Thr217=) SNV Benign 129568 rs61732679 GRCh37: X:77112251-77112251
GRCh38: X:77856754-77856754
50 MAGT1 NM_001367916.1(MAGT1):c.511G>A (p.Ala171Thr) SNV Benign 743981 rs141774769 GRCh37: X:77112874-77112874
GRCh38: X:77857377-77857377

Expression for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Search GEO for disease gene expression data for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia.

Pathways for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Pathways related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 SLAMF6 SH2D1A PLCG1 KLRK1 ITK CD8A
2
Show member pathways
12.93 TUSC3 TRPM7 SLC41A2 SLC41A1 NIPAL1 MAGT1
3 11.59 SLAMF6 SH2D1A KLRK1 CD8A
4
Show member pathways
11.47 PLCG1 ITK CD8A
5 10.62 PLCG1 ITK CD8A
6 10.08 TUSC3 NIPAL1 MAGT1

GO Terms for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Cellular components related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.07 TUSC3 TRPM7 STT3B SLC41A2 SLC41A1 SLAMF6
2 integral component of membrane GO:0016021 9.9 TUSC3 TRPM7 STT3B SLC41A2 SLC41A1 SLAMF6
3 plasma membrane GO:0005886 9.73 TUSC3 TRPM7 SLC41A2 SLC41A1 SLAMF6 PLCG1
4 cell-cell junction GO:0005911 9.5 PLCG1 ITK CORO1A
5 oligosaccharyltransferase complex GO:0008250 8.92 TUSC3 STT3B MAGT1 KRTCAP2

Biological processes related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.92 SLAMF6 SH2D1A KLRK1 ITK CD8A
2 adaptive immune response GO:0002250 9.85 SLAMF6 SH2D1A KLRK1 ITK CD8A
3 regulation of immune response GO:0050776 9.78 SLAMF6 SH2D1A KLRK1 CD8A
4 protein glycosylation GO:0006486 9.73 TUSC3 STT3B MAGT1 KRTCAP2
5 cation transport GO:0006812 9.67 TRPM7 SLC41A2 SLC41A1
6 activation of phospholipase C activity GO:0007202 9.55 PLCG1 ITK
7 metal ion transport GO:0030001 9.54 SLC41A2 SLC41A1
8 protein N-linked glycosylation via asparagine GO:0018279 9.54 TUSC3 STT3B MAGT1
9 immunological synapse formation GO:0001771 9.51 DOCK8 CORO1A
10 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.5 SLAMF6 SH2D1A KLRK1
11 protein N-linked glycosylation GO:0006487 9.46 TUSC3 STT3B MAGT1 KRTCAP2
12 divalent metal ion transport GO:0070838 9.43 TRPM7 SLC41A2 SLC41A1
13 cellular magnesium ion homeostasis GO:0010961 9.4 TRPM7 SLC41A1
14 magnesium ion transmembrane transport GO:1903830 9.26 TUSC3 SLC41A1 NIPAL1 MAGT1
15 magnesium ion transport GO:0015693 8.92 TUSC3 SLC41A1 NIPAL1 MAGT1

Molecular functions related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transporter activity GO:0008324 9.26 SLC41A2 SLC41A1
2 inorganic cation transmembrane transporter activity GO:0022890 9.16 SLC41A2 SLC41A1
3 divalent inorganic cation transmembrane transporter activity GO:0072509 8.96 SLC41A2 SLC41A1
4 magnesium ion transmembrane transporter activity GO:0015095 8.92 TUSC3 SLC41A1 NIPAL1 MAGT1

Sources for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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