Immunodeficiency 7, Tcr-Alpha/beta Deficient disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁴⁶OMIM, ³²MalaCards
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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 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:⁴⁶ 615387

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

Sources:
⁴⁶OMIM, ⁴⁸Orphanet, ²⁷ICD10 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

ICD10: ²⁷

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Other specified immunodeficiencies

Orphanet: ⁴⁸

Rare immunological diseases

External Ids:

OMIM⁴⁶ 615387

ICD10 via Orphanet²⁷ D84.8

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

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
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Diseases related to Immunodeficiency 7, Tcr-Alpha/beta Deficient via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	leukemia	9.9	TRAC, TRA
2	burkitt's lymphoma	9.8	TRAC, TRA

Symptoms for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

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	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

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

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

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

Sources:
³²MalaCards
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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

Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Genes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁴⁸Orphanet
See all sources

Genes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	TRAC		T cell receptor alpha constant	20.00	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸
2	TRA		T cell receptor alpha locus	10.00	Molecular basis known ⁴⁶