MCID: IMM152
MIFTS: 11

Immunodeficiency 45

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 45

MalaCards integrated aliases for Immunodeficiency 45:

Name: Immunodeficiency 45 57 75 6
Imd45 57 75

Characteristics:

OMIM:

57
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:

32
immunodeficiency 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616669
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005

Summaries for Immunodeficiency 45

UniProtKB/Swiss-Prot : 75 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:

57
Neurologic Central Nervous System:
encephalopathy in response to viral infection

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


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

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 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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