MCID: INT106
MIFTS: 18

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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MalaCards based summary: Interleukin 2 Receptor Alpha Chain Deficiency, is also known as interleukin-2 receptor, alpha chain, deficiency of, and has symptoms including autosomal recessive inheritance, hepatosplenomegaly and chronic diarrhea. 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:
21GeneTests, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

Interleukin 2 Receptor Alpha Chain Deficiency, Aliases & Descriptions:

Name: Interleukin 2 Receptor Alpha Chain Deficiency 21
Interleukin-2 Receptor, Alpha Chain, Deficiency of 46
 
Interleukin-2 Receptor Alpha Chain Deficiency 48
Immunodeficiency Due to Cd25 Deficiency 48


Classifications:

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


External Ids:

OMIM46 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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Clinical features from OMIM:

606367

HPO human phenotypes related to Interleukin 2 Receptor Alpha Chain Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hepatosplenomegaly HP:0001433
3 chronic diarrhea HP:0002028
4 lymphadenopathy HP:0002716
5 recurrent bacterial infections HP:0002718
6 iga deficiency HP:0002720
7 recurrent fungal infections HP:0002841
8 recurrent viral infections HP:0004429
9 t lymphocytopenia HP:0005403

Drugs & Therapeutics for Interleukin 2 Receptor Alpha Chain Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Interleukin 2 Receptor Alpha Chain Deficiency

Genetic Tests for Interleukin 2 Receptor Alpha Chain Deficiency

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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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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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Variations for Interleukin 2 Receptor Alpha Chain Deficiency

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Clinvar genetic disease variations for Interleukin 2 Receptor Alpha Chain Deficiency:

7
id Gene Name Type Significance SNP ID Assembly Location
1IL2RAIL2RA, 4-BP DEL, NT60deletionPathogenic

Expression for genes affiliated with Interleukin 2 Receptor Alpha Chain Deficiency

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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
  • Proteins
  • Kits and Assays

Sources for Interleukin 2 Receptor Alpha Chain Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet