MCID: IMM110
MIFTS: 19

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

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune 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 54 71 13
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 56 69
Xmen 56 71
Combined Immunodeficiency Due to Magt1 Deficiency 56
Cid Due to Magt1 Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia:
Inheritance x-linked inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 300853
Orphanet 56 ORPHA317476
ICD10 via Orphanet 34 D81.8
MedGen 40 C3275445
MeSH 42 D008231

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

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia, also known as x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia, is related to x-linked magnesium deficiency with epstein-barr virus infection and neoplasia, and has symptoms including lymphoma, immunodeficiency and recurrent viral infections. An important gene associated with Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia is MAGT1 (Magnesium Transporter 1). The drugs Magnesium Sulfate and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include t cells.

OMIM : 54
XMEN is an X-linked immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). (300853)

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:

id Related Disease Score Top Affiliating Genes
1 x-linked magnesium deficiency with epstein-barr virus infection and neoplasia 11.9

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

Clinical features from OMIM:

300853

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

32
id Description HPO Frequency HPO Source Accession
1 lymphoma 32 HP:0002665
2 immunodeficiency 32 HP:0002721
3 recurrent viral infections 32 HP:0004429
4 decreased number of cd4+ t cells 32 HP:0005407
5 decreased t cell activation 32 HP:0005419

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

Drugs for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Vet_approved Phase 1, Phase 2 7487-88-9 24083
2 Analgesics Phase 1, Phase 2
3 Anesthetics Phase 1, Phase 2
4 Anti-Arrhythmia Agents Phase 1, Phase 2
5 Anticonvulsants Phase 1, Phase 2
6 calcium channel blockers Phase 1, Phase 2
7 Calcium, Dietary Phase 1, Phase 2
8 Central Nervous System Depressants Phase 1, Phase 2
9 Peripheral Nervous System Agents Phase 1, Phase 2
10 Tocolytic Agents Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Magnesium Supplementation in People With XMEN Syndrome Recruiting NCT02496676 Phase 1, Phase 2 Magnesium L-threonate;Placebo;Magnesium Sulfate (MgSO)

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...

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:

39
T Cells

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

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
id Gene Variation Type Significance SNP ID Assembly Location
1 MAGT1 MAGT1, IVS7AS, 10-BP DEL, -6 deletion Pathogenic
2 MAGT1 NM_032121.5(MAGT1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs387906724 GRCh37 Chromosome X, 77126382: 77126382

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...

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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