MCID: TYP044
MIFTS: 17

Type 1 Interferonopathy

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Type 1 Interferonopathy

MalaCards integrated aliases for Type 1 Interferonopathy:

Name: Type 1 Interferonopathy 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Orphanet 58 ORPHA477647

Summaries for Type 1 Interferonopathy

MalaCards based summary : Type 1 Interferonopathy is related to familial chilblain lupus and chilblain lupus 1. An important gene associated with Type 1 Interferonopathy is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and Interferon gamma signaling. Affiliated tissues include bone, t cells and brain.

Related Diseases for Type 1 Interferonopathy

Graphical network of the top 20 diseases related to Type 1 Interferonopathy:



Diseases related to Type 1 Interferonopathy

Symptoms & Phenotypes for Type 1 Interferonopathy

Drugs & Therapeutics for Type 1 Interferonopathy

Search Clinical Trials , NIH Clinical Center for Type 1 Interferonopathy

Genetic Tests for Type 1 Interferonopathy

Anatomical Context for Type 1 Interferonopathy

MalaCards organs/tissues related to Type 1 Interferonopathy:

40
Bone, T Cells, Brain, Pancreas

Publications for Type 1 Interferonopathy

Articles related to Type 1 Interferonopathy:

# Title Authors PMID Year
1
Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation. 61
29759327 2018
2
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. 61
29782060 2018
3
Type 1 Diabetes and Type 1 Interferonopathies: Localization of a Type 1 Common Thread of Virus Infection in the Pancreas. 61
28663145 2017
4
[Familial chilblain lupus : Type 1 interferonopathy with model character]. 61
28389709 2017
5
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
6
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 61
27325888 2016

Variations for Type 1 Interferonopathy

Expression for Type 1 Interferonopathy

Search GEO for disease gene expression data for Type 1 Interferonopathy.

Pathways for Type 1 Interferonopathy

Pathways related to Type 1 Interferonopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 USP18 SAMHD1
2
Show member pathways
11.11 USP18 SAMHD1

GO Terms for Type 1 Interferonopathy

Biological processes related to Type 1 Interferonopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.48 TREX1 SAMHD1
2 immune response GO:0006955 9.46 TREX1 SAMHD1
3 cellular response to DNA damage stimulus GO:0006974 9.43 TREX1 SAMHD1
4 DNA repair GO:0006281 9.4 TREX1 SAMHD1
5 defense response to virus GO:0051607 9.37 TREX1 SAMHD1
6 DNA replication GO:0006260 9.32 TREX1 SAMHD1
7 regulation of inflammatory response GO:0050727 9.26 USP18 TREX1
8 type I interferon signaling pathway GO:0060337 9.16 TREX1 SAMHD1
9 regulation of innate immune response GO:0045088 8.96 TREX1 SAMHD1
10 negative regulation of type I interferon-mediated signaling pathway GO:0060339 8.62 TREX1 SAMHD1

Molecular functions related to Type 1 Interferonopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.13 USP18 TREX1 SAMHD1
2 single-stranded DNA binding GO:0003697 8.62 TREX1 SAMHD1

Sources for Type 1 Interferonopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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