MCID: TRC034
MIFTS: 24

Torch Syndrome

Categories: Blood diseases, Bone diseases, Fetal 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 12 73 20 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0080835
UMLS 70 C0270173

Summaries for Torch Syndrome

Disease Ontology : 12 A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms.

MalaCards based summary : Torch Syndrome is related to congenital intrauterine infection-like syndrome and hoyeraal hreidarsson syndrome. An important gene associated with Torch Syndrome is OCLN (Occludin), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and Peginterferon alpha-2a/Peginterferon alpha-2b Pathway (Hepatocyte), Pharmacodynamics. Affiliated tissues include liver and skin.

Wikipedia : 73 TORCH syndrome is a cluster of symptoms caused by congenital infection with toxoplasmosis, rubella,... more...

Related Diseases for Torch Syndrome

Diseases in the Torch Syndrome family:

Pseudo-Torch Syndrome 1 Pseudo-Torch Syndrome 2
Pseudo-Torch Syndrome 3

Diseases related to Torch Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 congenital intrauterine infection-like syndrome 31.8 TERC DKC1
2 hoyeraal hreidarsson syndrome 31.1 TERC DKC1
3 aicardi-goutieres syndrome 29.2 USP18 STAT2
4 pseudo-torch syndrome 1 11.8
5 pseudo-torch syndrome 2 11.5
6 pseudo-torch syndrome 3 11.5
7 aicardi-goutieres syndrome 1 11.4
8 aicardi-goutieres syndrome 2 11.2
9 aicardi-goutieres syndrome 3 11.2
10 aicardi-goutieres syndrome 4 11.2
11 aicardi-goutieres syndrome 5 11.2
12 aicardi-goutieres syndrome 6 11.2
13 congenital toxoplasmosis 11.0
14 microcephaly 10.2
15 rubella 10.1
16 toxoplasmosis 10.1
17 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
18 cerebellar hypoplasia 10.0
19 herpes simplex 10.0
20 polymicrogyria 10.0
21 spasticity 10.0
22 branchiootic syndrome 1 9.9
23 mumps 9.9
24 hydrocephalus 9.9
25 neonatal jaundice 9.9
26 bilirubin metabolic disorder 9.9
27 purpura 9.9
28 syphilis 9.9
29 conjunctivitis 9.9
30 chickenpox 9.9
31 chorioretinitis 9.9
32 diabetes insipidus 9.9
33 congenital herpes simplex 9.9
34 congenital rubella 9.9
35 cytomegalic inclusion disease 9.9
36 splenomegaly 9.9
37 cerebral atrophy 9.9
38 seizure disorder 9.9
39 type 1 interferonopathy 9.9
40 revesz syndrome 9.8 TERC DKC1
41 dyskeratosis congenita, x-linked 9.7 TERC DKC1
42 dyskeratosis congenita 9.7 TERC DKC1
43 adermatoglyphia 9.7 OCLN DKC1
44 dyskeratosis congenita autosomal dominant 9.7 TERC DKC1
45 coats disease 9.6 TERC DKC1
46 shwachman-diamond syndrome 1 9.6 TERC DKC1

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



Diseases related to Torch Syndrome

Symptoms & Phenotypes for Torch Syndrome

Drugs & Therapeutics for Torch Syndrome

Search Clinical Trials , NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

Anatomical Context for Torch Syndrome

MalaCards organs/tissues related to Torch Syndrome:

40
Liver, Skin

Publications for Torch Syndrome

Articles related to Torch Syndrome:

(show all 38)
# Title Authors PMID Year
1
Impact of Zika virus on the human type I interferon osteoimmune response. 61
33130337 2021
2
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction. 61
32240828 2020
3
Development of a community-based hearing loss prevention and control service model in Guangdong, China. 61
31783833 2019
4
Molecular screening of the human parvoviruses B19 and bocavirus 1 in the study of congenital diseases as applied to symptomatic pregnant women and children. 61
32974527 2019
5
Hearing-loss-associated gene detection in neonatal intensive care unit. 61
28093008 2018
6
Microglial Interferon Signaling and White Matter. 61
28540600 2017
7
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. 61
28761539 2017
8
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 61
27325888 2016
9
[TORCH syndrome: Rational approach of pre and post natal diagnosis and treatment. Recommendations of the Advisory Committee on Neonatal Infections Sociedad Chilena de Infectología, 2016]. 61
27314998 2016
10
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. 61
26689621 2016
11
[Novel aspects of human infertility: the role of the male factor]. 61
26561850 2015
12
Awareness of and knowledge about mother-to-child infections in Japanese pregnant women. 61
24588778 2014
13
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. 61
25207129 2013
14
[Prevalence of infectious agents in indigenous women of childbearing age in Venezuela]. 61
23715227 2012
15
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be? 61
22772931 2012
16
Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation. 61
21762029 2012
17
[Genetic syndromes that mimic congenital infections: report of 2 cases]. 61
21963371 2011
18
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 61
21109224 2010
19
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 61
20727516 2010
20
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. 61
18925673 2008
21
[Advances in molecular biology of rubella virus structural proteins]. 61
18686389 2008
22
Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? 61
18084237 2008
23
Blueberry muffin baby: a pictoral differential diagnosis. 61
18700111 2008
24
Genetic syndromes mimic congenital infections. 61
15870678 2005
25
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). 61
12833411 2003
26
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. 61
12624136 2003
27
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. 61
11226724 2001
28
[TORCH syndrome]. 61
10337745 1999
29
Biological mechanisms of environmentally induced causes of IUGR. 61
9511016 1998
30
TORCH syndrome. 61
7640200 1995
31
[Skin manifestations revealing monocytic leukemia. A case report]. 61
1616240 1992
32
Neuroradiology of intracranial infection. 61
1419847 1992
33
TORCH syndrome and TORCH screening. 61
1972489 1990
34
Charts: the TORCH syndrome revisited. 61
2922243 1989
35
The TORCH syndrome: a clinical review. 61
2985660 1985
36
Retinal disorders of childhood. 61
6689065 1983
37
Leukocyte transforming agent (Epstein-Barr virus) in newborn infants and older individuals. 61
182946 1976
38
The "torch syndrome. 61
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
11.34 USP18 STAT2 DKC1
2
Show member pathways
9.98 USP18 STAT2

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 TERC DKC1
2 telomerase holoenzyme complex GO:0005697 8.96 TERC DKC1
3 box H/ACA telomerase RNP complex GO:0090661 8.62 TERC DKC1

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 TERC DKC1

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 TERC DKC1

Sources for Torch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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