MCID: TRC034
MIFTS: 22

Torch Syndrome

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Torch Syndrome

MalaCards integrated aliases for Torch Syndrome:

Name: Torch Syndrome 54 74

Classifications:



External Ids:

UMLS 74 C0270173

Summaries for Torch Syndrome

MalaCards based summary : Torch Syndrome is related to congenital intrauterine infection-like syndrome and pseudo-torch syndrome 1. An important gene associated with Torch Syndrome is OCLN (Occludin), and among its related pathways/superpathways is Immune response IFN alpha/beta signaling pathway. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 77 TORCH syndrome is a cluster of symptoms caused by congenital infection with toxoplasmosis, rubella,... more...

Related Diseases for Torch Syndrome

Graphical network of the top 20 diseases related to Torch Syndrome:



Diseases related to Torch Syndrome

Symptoms & Phenotypes for Torch Syndrome

GenomeRNAi Phenotypes related to Torch Syndrome according to GeneCards Suite gene sharing:

27 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.73 DKC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.73 DKC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.73 DKC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.73 DKC1 USP18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.73 DKC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.73 DKC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.73 USP18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.73 DKC1 USP18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.73 DKC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 DKC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 USP18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 USP18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 DKC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.64 DKC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.64 USP18
16 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.64 USP18
17 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.64 USP18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.64 DKC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 DKC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 DKC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.64 DKC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.64 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 DKC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 USP18
26 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.64 DKC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 USP18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 DKC1 USP18
29 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.64 USP18
30 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.64 DKC1

Drugs & Therapeutics for Torch Syndrome

Search Clinical Trials , NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

Anatomical Context for Torch Syndrome

Publications for Torch Syndrome

Articles related to Torch Syndrome:

# Title Authors Year
1
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
2
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )
2016
3
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. ( 25207129 )
2013
4
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ( 12833411 )
2003
5
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. ( 11226724 )
2001
6
TORCH syndrome. ( 7640200 )
1995
7
TORCH syndrome and TORCH screening. ( 1972489 )
1990
8
Charts: the TORCH syndrome revisited. ( 2922243 )
1989
9
The TORCH syndrome: a clinical review. ( 2985660 )
1985
10
The &amp;quot;torch syndrome. ( 177938 )
1976

Variations for Torch Syndrome

Expression for Torch Syndrome

Search GEO for disease gene expression data for Torch Syndrome.

Pathways for Torch Syndrome

Pathways related to Torch Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 DKC1 USP18

GO Terms for Torch Syndrome

Cellular components related to Torch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cajal body GO:0015030 9.16 DKC1 TERC
2 telomerase holoenzyme complex GO:0005697 8.96 DKC1 TERC
3 box H/ACA telomerase RNP complex GO:0090661 8.62 DKC1 TERC

Biological processes related to Torch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomere maintenance via telomerase GO:0007004 8.62 DKC1 TERC

Molecular functions related to Torch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomerase activity GO:0003720 8.62 DKC1 TERC

Sources for Torch Syndrome

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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