MCID: INT106
MIFTS: 15

Interleukin 2 Receptor Alpha Chain Deficiency malady

Genetic diseases, Blood diseases, Rare diseases, Immune diseases categories
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Summaries for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
47OMIM, 33MalaCards
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MalaCards: Interleukin 2 Receptor Alpha Chain Deficiency, is also known as interleukin-2 receptor, alpha chain, deficiency of An important gene associated with Interleukin 2 Receptor Alpha Chain Deficiency is IL2RA (interleukin 2 receptor, alpha). Affiliated tissues include b cells.

Description from OMIM:47 606367

Aliases & Classifications for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
20GeneTests, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
interleukin-2 receptor alpha chain deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

interleukin 2 receptor alpha chain deficiency 20
interleukin-2 receptor, alpha chain, deficiency of 47
interleukin-2 receptor alpha chain deficiency 49
immunodeficiency due to cd25 deficiency 49


External Ids:

OMIM47 606367
ICD10 via Orphanet26 D81.2

Related Diseases for Interleukin 2 Receptor Alpha Chain Deficiency

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Symptoms for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
47OMIM
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Clinical features from OMIM:

606367

Drugs & Therapeutics for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Interleukin 2 Receptor Alpha Chain Deficiency

Search NIH Clinical Center for Interleukin 2 Receptor Alpha Chain Deficiency

Genetic Tests for Interleukin 2 Receptor Alpha Chain Deficiency

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20GeneTests
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Genetic tests related to Interleukin 2 Receptor Alpha Chain Deficiency:

id Genetic test Affiliating Genes
1 Interleukin 2 Receptor Alpha Chain Deficiency20 IL2RA

Anatomical Context for Interleukin 2 Receptor Alpha Chain Deficiency

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33MalaCards
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MalaCards organs/tissues related to Interleukin 2 Receptor Alpha Chain Deficiency:

33
B cells

Animal Models for Interleukin 2 Receptor Alpha Chain Deficiency or affiliated genes

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Publications for Interleukin 2 Receptor Alpha Chain Deficiency

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Variations for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Interleukin 2 Receptor Alpha Chain Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1IL2RAIL2RA, 4-BP DEL, NT60deletionPathogenic/card/interleukin_2_receptor_alpha_chain_deficiency

Expression for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

Search GEO for disease gene expression data for Interleukin 2 Receptor Alpha Chain Deficiency.

Pathways for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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Compounds for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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GO Terms for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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Products for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Interleukin 2 Receptor Alpha Chain Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet