MCID: INT106
MIFTS: 15

Interleukin 2 Receptor Alpha Chain Deficiency malady

Blood diseases, Immune diseases categories

Summaries for Interleukin 2 Receptor Alpha Chain Deficiency

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46OMIM, 32MalaCards
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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:46 606367

Aliases & Classifications for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
20GeneTests, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
interleukin-2 receptor alpha chain deficiency 48
immunodeficiency due to cd25 deficiency 48


External Ids:

OMIM46 606367
ICD10 via Orphanet26 D81.2

Related Diseases for Interleukin 2 Receptor Alpha Chain Deficiency

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Clinical Features for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

606367

Drugs & Therapeutics for Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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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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32MalaCards
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MalaCards organs/tissues related to Interleukin 2 Receptor Alpha Chain Deficiency:

32
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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Genetic Variations for Interleukin 2 Receptor Alpha Chain Deficiency

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Expression for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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Sources:
1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet