IMD45
MCID: IMM152
MIFTS: 11

Immunodeficiency 45 (IMD45)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 45

MalaCards integrated aliases for Immunodeficiency 45:

Name: Immunodeficiency 45 58 76 6
Imd45 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two sibs have been reported (last curated november 2015)
sib a developed symptoms after routine mmr vaccination
sib b did not receive mmr vaccination and was asymptomatic in infancy


HPO:

33
immunodeficiency 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616669
MeSH 45 D007153
SNOMED-CT via HPO 70 258211005

Summaries for Immunodeficiency 45

UniProtKB/Swiss-Prot : 76 Immunodeficiency 45: An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination.

MalaCards based summary : Immunodeficiency 45, is also known as imd45. An important gene associated with Immunodeficiency 45 is IFNAR2 (Interferon Alpha And Beta Receptor Subunit 2).

Description from OMIM: 616669

Related Diseases for Immunodeficiency 45

Symptoms & Phenotypes for Immunodeficiency 45

Symptoms via clinical synopsis from OMIM:

58
Immunology:
increased susceptibility to certain viral infections
normal serologic immunoglobulin production to vaccination
impaired antiviral response to alpha- and beta-interferon signaling

Neurologic Central Nervous System:
encephalopathy in response to viral infection

Clinical features from OMIM:

616669

Drugs & Therapeutics for Immunodeficiency 45

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 45

Genetic Tests for Immunodeficiency 45

Anatomical Context for Immunodeficiency 45

Publications for Immunodeficiency 45

Articles related to Immunodeficiency 45:

# Title Authors Year
1
Human IFNAR2 deficiency: Lessons for antiviral immunity. ( 26424569 )
2015

Variations for Immunodeficiency 45

ClinVar genetic disease variations for Immunodeficiency 45:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFNAR2 NM_207585.2(IFNAR2): c.311delA (p.Glu104Glyfs) deletion Pathogenic rs775739391 GRCh37 Chromosome 21, 34619112: 34619112
2 IFNAR2 NM_207585.2(IFNAR2): c.311delA (p.Glu104Glyfs) deletion Pathogenic rs775739391 GRCh38 Chromosome 21, 33246807: 33246807

Expression for Immunodeficiency 45

Search GEO for disease gene expression data for Immunodeficiency 45.

Pathways for Immunodeficiency 45

GO Terms for Immunodeficiency 45

Sources for Immunodeficiency 45

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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