MCID: INT106
MIFTS: 15

Interleukin 2 Receptor Alpha Chain Deficiency malady

Genetic diseases, Blood diseases, Rare diseases, Immune diseases categories

Summaries for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
48OMIM, 34MalaCards
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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:48 606367

Aliases & Classifications for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
21GeneTests, 48OMIM, 50Orphanet, 27ICD10 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):

50
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 21
interleukin-2 receptor, alpha chain, deficiency of 48
interleukin-2 receptor alpha chain deficiency 50
immunodeficiency due to cd25 deficiency 50


External Ids:

OMIM48 606367
ICD10 via Orphanet27 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:
48OMIM
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Clinical features from OMIM:

606367

Drugs & Therapeutics for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Interleukin 2 Receptor Alpha Chain Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Interleukin 2 Receptor Alpha Chain Deficiency

Search CenterWatch for Interleukin 2 Receptor Alpha Chain Deficiency

Genetic Tests for Interleukin 2 Receptor Alpha Chain Deficiency

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21GeneTests
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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 Deficiency21 IL2RA

Anatomical Context for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
34MalaCards
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MalaCards organs/tissues related to Interleukin 2 Receptor Alpha Chain Deficiency:

34
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet