IMD65
MCID: IMM235
MIFTS: 19

Immunodeficiency 65 (IMD65)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 65

MalaCards integrated aliases for Immunodeficiency 65:

Name: Immunodeficiency 65 12 15
Immunodeficiency 65, Susceptibility to Viral Infections 12
Imd65 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111978

Summaries for Immunodeficiency 65

Disease Ontology : 12 A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has material basis in homozygous or compound heterozygous mutation in IRF9 on chromosome 14q12.

MalaCards based summary : Immunodeficiency 65, also known as immunodeficiency 65, susceptibility to viral infections, is related to immunodeficiency 65 viral infections and t cell deficiency. An important gene associated with Immunodeficiency 65 is IRF9 (Interferon Regulatory Factor 9), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Measles. Related phenotypes are cellular and immune system

Related Diseases for Immunodeficiency 65

Graphical network of the top 20 diseases related to Immunodeficiency 65:



Diseases related to Immunodeficiency 65

Symptoms & Phenotypes for Immunodeficiency 65

MGI Mouse Phenotypes related to Immunodeficiency 65:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 CD44 FASLG IRF9 PRF1 RAG1 SELL
2 immune system MP:0005387 9.73 CD44 FASLG IRF9 PRF1 RAG1 SELL
3 endocrine/exocrine gland MP:0005379 9.72 CD44 FASLG PRF1 RAG1 SELL
4 integument MP:0010771 9.63 CD44 FASLG IRF9 PRF1 RAG1 SELL
5 liver/biliary system MP:0005370 9.35 CD44 FASLG PRF1 RAG1 SELL
6 neoplasm MP:0002006 9.02 CD44 FASLG PRF1 RAG1 SELL

Drugs & Therapeutics for Immunodeficiency 65

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 65

Genetic Tests for Immunodeficiency 65

Anatomical Context for Immunodeficiency 65

Publications for Immunodeficiency 65

Variations for Immunodeficiency 65

Expression for Immunodeficiency 65

Search GEO for disease gene expression data for Immunodeficiency 65.

Pathways for Immunodeficiency 65

GO Terms for Immunodeficiency 65

Cellular components related to Immunodeficiency 65 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule membrane GO:0030667 8.62 SELL CD44

Biological processes related to Immunodeficiency 65 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interferon-gamma-mediated signaling pathway GO:0060333 8.96 IRF9 CD44
2 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 8.62 RAG1 CD44

Sources for Immunodeficiency 65

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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