MCID: MD5001
MIFTS: 4

Mda5 Deficiency

Aliases & Classifications for Mda5 Deficiency

MalaCards integrated aliases for Mda5 Deficiency:

Name: Mda5 Deficiency 25
Ifih1 Deficiency 25

Summaries for Mda5 Deficiency

Genetics Home Reference : 25 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.

MalaCards based summary : Mda5 Deficiency, is also known as ifih1 deficiency. An important gene associated with Mda5 Deficiency is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include lung.

Related Diseases for Mda5 Deficiency

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

MalaCards organs/tissues related to Mda5 Deficiency:

41
Lung

Publications for Mda5 Deficiency

Articles related to Mda5 Deficiency:

# Title Authors Year
1
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. ( 28606988 )
2017

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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