MCID: MD5001
MIFTS: 6

Mda5 Deficiency

Categories: Respiratory diseases

Aliases & Classifications for Mda5 Deficiency

MalaCards integrated aliases for Mda5 Deficiency:

Name: Mda5 Deficiency 43
Ifih1 Deficiency 43

Classifications:



Summaries for Mda5 Deficiency

MedlinePlus Genetics : 43 MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy. These infections are most frequently caused by rhinovirus (the virus that causes the common cold). Respiratory syncytial virus (RSV) and the influenza (flu) virus may also cause recurrent infections in affected individuals. While infection by these viruses is common in all children, it usually causes mild symptoms and lasts only a short time before being cleared by a healthy immune system. In contrast, individuals with MDA5 deficiency frequently require hospitalization due to the severity of the symptoms caused by the infection. Repeated infections can contribute to chronic lung disease.Infections usually become less frequent with age in people with MDA5 deficiency, as the body's immune system matures and develops other mechanisms for fighting viruses.

MalaCards based summary : Mda5 Deficiency, also known as ifih1 deficiency, is related to common cold. An important gene associated with Mda5 Deficiency is IFIH1 (Interferon Induced With Helicase C Domain 1).

Related Diseases for Mda5 Deficiency

Diseases related to Mda5 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 common cold 9.9

Symptoms & Phenotypes for Mda5 Deficiency

Drugs & Therapeutics for Mda5 Deficiency

Search Clinical Trials , NIH Clinical Center for Mda5 Deficiency

Genetic Tests for Mda5 Deficiency

Anatomical Context for Mda5 Deficiency

Publications for Mda5 Deficiency

Articles related to Mda5 Deficiency:

(showing 4, show less)
# Title Authors PMID Year
1
Repetitive Elements Trigger RIG-I-like Receptor Signaling that Regulates the Emergence of Hematopoietic Stem and Progenitor Cells. 61
33159854 2020
2
New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response. 61
31693592 2019
3
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. 61
28606988 2017
4
Deficiency of melanoma differentiation-associated protein 5 results in exacerbated chronic postviral lung inflammation. 61
24417465 2014

Variations for Mda5 Deficiency

Expression for Mda5 Deficiency

Search GEO for disease gene expression data for Mda5 Deficiency.

Pathways for Mda5 Deficiency

GO Terms for Mda5 Deficiency

Sources for Mda5 Deficiency

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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