MCID: IMM026
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 57 25 29 6
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 57 75 13 40
Xmen 57 25 59 75
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 59 73
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 25
Combined Immunodeficiency Due to Magt1 Deficiency 59
Cid Due to Magt1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare immunological diseases


External Ids:

OMIM 57 300853
Orphanet 59 ORPHA317476
ICD10 via Orphanet 34 D81.8
MedGen 42 C3275445
MeSH 44 D008231
UMLS 73 C3275445

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

Genetics Home Reference : 25 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.

MalaCards based summary : Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia, also known as immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia, is related to x-linked magnesium deficiency with epstein-barr virus infection and neoplasia. An important gene associated with Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia is MAGT1 (Magnesium Transporter 1). Affiliated tissues include t cells, and related phenotypes are lymphoma and immunodeficiency

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

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:

# Related Disease Score Top Affiliating Genes
1 x-linked magnesium deficiency with epstein-barr virus infection and neoplasia 11.7

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
# 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 proportion of cd4-positive t cells 32 HP:0005407
5 decreased t cell activation 32 HP:0005419

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

Search Clinical Trials , 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:

41
T Cells

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:

# Title Authors Year
1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. ( 25313976 )
2014

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 all 12)
# 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
3 MAGT1 NM_032121.5(MAGT1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs387906724 GRCh38 Chromosome X, 77870885: 77870885
4 MAGT1 NM_032121.5(MAGT1): c.67G> A (p.Val23Ile) single nucleotide variant Benign/Likely benign rs182757967 GRCh37 Chromosome X, 77150937: 77150937
5 MAGT1 NM_032121.5(MAGT1): c.67G> A (p.Val23Ile) single nucleotide variant Benign/Likely benign rs182757967 GRCh38 Chromosome X, 77895440: 77895440
6 MAGT1 NM_032121.5(MAGT1): c.1088+1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome X, 77086301: 77086301
7 MAGT1 NM_032121.5(MAGT1): c.1088+1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome X, 77830804: 77830804
8 MAGT1 NC_000023.10: g.(?_77084697)_(77131114_?)dup duplication Uncertain significance GRCh37 Chromosome X, 77084697: 77131114
9 MAGT1 NM_032121.5(MAGT1): c.58C> T (p.Arg20Trp) single nucleotide variant Uncertain significance rs370329684 GRCh37 Chromosome X, 77150946: 77150946
10 MAGT1 NM_032121.5(MAGT1): c.58C> T (p.Arg20Trp) single nucleotide variant Uncertain significance rs370329684 GRCh38 Chromosome X, 77895449: 77895449
11 MAGT1 NM_032121.5(MAGT1): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 77131070: 77131070
12 MAGT1 NM_032121.5(MAGT1): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 77875573: 77875573

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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