MCID: IMM067
MIFTS: 13

Immunodeficiency 7, Tcr-Alpha/beta Deficient malady

Genetic diseases (common), Immune diseases categories

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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MalaCards based summary: Immunodeficiency 7, Tcr-Alpha/beta Deficient, also known as t-cell receptor-alpha/beta deficiency, is related to leukemia and burkitt lymphoma, and has symptoms including autosomal recessive inheritance, failure to thrive and lymphadenopathy. An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T cell receptor alpha constant). Affiliated tissues include t cells.

Description from OMIM:45 615387

Aliases & Classifications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Immunodeficiency 7, Tcr-Alpha/beta Deficient, Aliases & Descriptions:

Name: Immunodeficiency 7, Tcr-Alpha/beta Deficient 45
 
T-Cell Receptor-Alpha/beta Deficiency 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases


External Ids:

OMIM45 615387

Related Diseases for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Diseases related to Immunodeficiency 7, Tcr-Alpha/beta Deficient via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leukemia9.9TRAC, TRA
2burkitt lymphoma9.7TRAC, TRA

Symptoms for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Symptoms by clinical synopsis from OMIM:

615387

Clinical features from OMIM:

615387

HPO human phenotypes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 failure to thrive HP:0001508
3 lymphadenopathy HP:0002716
4 recurrent infections HP:0002719
5 autoimmunity HP:0002960
6 infantile onset HP:0003593

Drugs & Therapeutics for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Search NIH Clinical Center for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Genetic Tests for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Anatomical Context for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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MalaCards organs/tissues related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

31
T cells

Animal Models for Immunodeficiency 7, Tcr-Alpha/beta Deficient or affiliated genes

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Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Clinvar genetic disease variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NG_001332.2: g.1074699G> Asingle nucleotide variantPathogenicrs397514259GRCh37Chr 14, 23019608: 23019608

Expression for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Search GEO for disease gene expression data for Immunodeficiency 7, Tcr-Alpha/beta Deficient.

Pathways for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Compounds for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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GO Terms for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Products for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet