MCID: IMM067
MIFTS: 17

Immunodeficiency 7, Tcr-Alpha/beta Deficient malady

Blood diseases, Rare diseases, Immune diseases categories
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Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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MalaCards based summary: Immunodeficiency 7, Tcr-Alpha/beta Deficient, also known as tcr-alpha-beta-positive t-cell deficiency, is related to leukemia and burkitt's lymphoma, and has symptoms including An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T cell receptor alpha constant), and among its related pathways is Class I MHC mediated antigen processing and presentation. Affiliated tissues include t cells.

Description from OMIM:46 615387

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Immunodeficiency 7, Tcr-Alpha/beta Deficient, Aliases & Descriptions:

Name: Immunodeficiency 7, Tcr-Alpha/beta Deficient 46
Tcr-Alpha-Beta-Positive T-Cell Deficiency 48
 
Tcr-Alpha-Beta+ T-Cell Deficiency 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases, Immune diseases


External Ids:

OMIM46 615387
ICD10 via Orphanet26 D84.8

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leukemia9.8TRAC, TRA
2burkitt's 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:

32
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 Name 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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Expression patterns in normal tissues for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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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Pathways related to Immunodeficiency 7, Tcr-Alpha/beta Deficient according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TRAC, SPTBN2

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

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet