PTORCH1
MCID: PSD106
MIFTS: 45

Pseudo-Torch Syndrome 1 (PTORCH1)

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

Aliases & Classifications for Pseudo-Torch Syndrome 1

MalaCards integrated aliases for Pseudo-Torch Syndrome 1:

Name: Pseudo-Torch Syndrome 1 56 12 73 29 6 15
Pseudo-Torch Syndrome 56 74 53 58 73 29 71
Band-Like Calcification with Simplified Gyration and Polymicrogyria 56 12 73 36 13 39
Ptorch1 56 12 73
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome 12 58
Bilateral Band-Like Calcification with Polymicrogyria 12 58
Baraitser-Brett-Piesowicz Syndrome 12 58
Baraitser Brett Piesowicz Syndrome 73 71
Baraitser-Reardon Syndrome 12 58
Blc-Pmg 12 58
Blcpmg 12 73
Pseudo-Torch Syndrome; Band-Like Calcification with Simplified Gyration and Polymicrogyria; Blcpmg 56
Congenital Intrauterine Infection-Like Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
congenital intrauterine infection-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
resembles intrauterine torch infection but without intrauterine infection


HPO:

31
pseudo-torch syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Pseudo-Torch Syndrome 1

NINDS : 53 Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, AGS2 is caused by a mutation in the RNASEH2B gene, AGS3 is caused by a mutation in the RNASEH2C gene, AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).

MalaCards based summary : Pseudo-Torch Syndrome 1, also known as pseudo-torch syndrome, is related to aicardi-goutieres syndrome 1 and congenital intrauterine infection-like syndrome, and has symptoms including muscle spasticity An important gene associated with Pseudo-Torch Syndrome 1 is OCLN (Occludin), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Tight junction. Affiliated tissues include liver, brain and testes, and related phenotypes are cataract and renal insufficiency

Disease Ontology : 12 A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has material basis in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2.

OMIM : 56 Pseudo-TORCH syndrome-1 is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). 7,6:Crow et al. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features. (251290)

KEGG : 36 Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually seen when congenital infection occurs (TORCH syndrome), but no infectious agents are detected in BLC-PMG (pseudo-TORCH syndrome). Affected individuals show early-onset seizures and severe microcephaly.

UniProtKB/Swiss-Prot : 73 Pseudo-TORCH syndrome 1: An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.

Wikipedia : 74 Aicardi-Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi... more...

Related Diseases for Pseudo-Torch Syndrome 1

Diseases in the Torch Syndrome family:

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

Diseases related to Pseudo-Torch Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 1 12.2
2 congenital intrauterine infection-like syndrome 12.0
3 hoyeraal hreidarsson syndrome 11.9
4 aicardi-goutieres syndrome 2 11.7
5 aicardi-goutieres syndrome 3 11.7
6 aicardi-goutieres syndrome 4 11.7
7 aicardi-goutieres syndrome 5 11.7
8 aicardi-goutieres syndrome 6 11.7
9 pseudo-torch syndrome 2 11.3
10 pseudo-torch syndrome 3 11.3
11 torch syndrome 10.5
12 microcephaly 10.5
13 anus, imperforate 10.4
14 cortical dysplasia, complex, with other brain malformations 10 10.4
15 autosomal recessive disease 10.4
16 basal ganglia calcification 10.4
17 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
18 cerebellar hypoplasia 10.3
19 rubella 10.3
20 toxoplasmosis 10.3
21 polymicrogyria 10.3
22 spasticity 10.3
23 dandy-walker syndrome 10.1
24 dyskeratosis congenita, x-linked 10.1
25 aicardi-goutieres syndrome 10.1
26 mumps 10.1
27 hydrocephalus 10.1
28 thrombocytopenia 10.1
29 neonatal jaundice 10.1
30 bilirubin metabolic disorder 10.1
31 syphilis 10.1
32 herpes simplex 10.1
33 chickenpox 10.1
34 diabetes insipidus 10.1
35 cerebral atrophy 10.1
36 seizure disorder 10.1
37 type 1 interferonopathy 10.1
38 basal ganglia calcification, idiopathic, childhood-onset 10.0
39 corpus callosum, partial agenesis of, x-linked 10.0
40 hypertonia 10.0
41 deafness, autosomal recessive 49 9.4 OCLN MARVELD3 MARVELD2

Graphical network of the top 20 diseases related to Pseudo-Torch Syndrome 1:



Diseases related to Pseudo-Torch Syndrome 1

Symptoms & Phenotypes for Pseudo-Torch Syndrome 1

Human phenotypes related to Pseudo-Torch Syndrome 1:

31 58 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 renal insufficiency 31 occasional (7.5%) HP:0000083
3 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
4 microcephaly 58 31 Very frequent (99-80%) HP:0000252
5 spasticity 58 31 Very frequent (99-80%) HP:0001257
6 cerebral calcification 58 31 Very frequent (99-80%) HP:0002514
7 global developmental delay 31 HP:0001263
8 splenomegaly 31 HP:0001744
9 hepatomegaly 31 HP:0002240
10 seizures 58 Very frequent (99-80%)
11 anteverted nares 31 HP:0000463
12 failure to thrive 31 HP:0001508
13 nystagmus 31 HP:0000639
14 abnormality of movement 58 Frequent (79-30%)
15 hyperreflexia 58 Very frequent (99-80%)
16 high palate 31 HP:0000218
17 low-set ears 31 HP:0000369
18 elevated hepatic transaminase 31 HP:0002910
19 thrombocytopenia 31 HP:0001873
20 jaundice 31 HP:0000952
21 cerebral cortical atrophy 58 Frequent (79-30%)
22 long philtrum 31 HP:0000343
23 ventriculomegaly 31 HP:0002119
24 petechiae 31 HP:0000967
25 microretrognathia 31 HP:0000308
26 polymicrogyria 31 HP:0002126
27 cerebellar hypoplasia 31 HP:0001321
28 pachygyria 31 HP:0001302
29 sloping forehead 31 HP:0000340
30 intellectual disability, profound 31 HP:0002187
31 muscular hypotonia of the trunk 31 HP:0008936
32 decreased liver function 31 HP:0001410
33 increased csf protein 31 HP:0002922
34 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares

Neurologic Central Nervous System:
spasticity
ventriculomegaly
polymicrogyria
cerebellar hypoplasia
pachygyria
more
Head And Neck Ears:
low-set ears

Head And Neck Mouth:
high-arched palate

Abdomen Spleen:
splenomegaly (less common)

Head And Neck Head:
microcephaly, congenital

Genitourinary Kidneys:
renal insufficiency (in some patients)
small echogenic kidneys (in some patients)
cortical calcifications (in some patients)

Laboratory Abnormalities:
abnormal liver function tests (less common)
no evidence of intrauterine infection in mother or newborn

Growth Other:
failure to thrive

Head And Neck Eyes:
nystagmus
cataracts (rare)
corneal clouding (rare)

Head And Neck Face:
long philtrum
microretrognathia
sloping forehead
bitemporal grooving

Abdomen Liver:
hepatomegaly (less common)
liver dysfunction (less common)

Hematology:
thrombocytopenia (less common)

Respiratory:
apneic spells

Skin Nails Hair Skin:
jaundice (less common)
petechiae (less common)

Clinical features from OMIM:

251290

UMLS symptoms related to Pseudo-Torch Syndrome 1:


muscle spasticity

Drugs & Therapeutics for Pseudo-Torch Syndrome 1

Search Clinical Trials , NIH Clinical Center for Pseudo-Torch Syndrome 1

Genetic Tests for Pseudo-Torch Syndrome 1

Genetic tests related to Pseudo-Torch Syndrome 1:

# Genetic test Affiliating Genes
1 Pseudo-Torch Syndrome 1 29 OCLN
2 Pseudo-Torch Syndrome 29

Anatomical Context for Pseudo-Torch Syndrome 1

MalaCards organs/tissues related to Pseudo-Torch Syndrome 1:

40
Liver, Brain, Testes, Eye, Spleen, Skin, Cerebellum

Publications for Pseudo-Torch Syndrome 1

Articles related to Pseudo-Torch Syndrome 1:

(show all 26)
# Title Authors PMID Year
1
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 61 56 6
20727516 2010
2
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. 56 6
19012351 2008
3
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. 56 61
18925673 2008
4
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. 56 61
12624136 2003
5
A novel rearrangement of occludin causes brain calcification and renal dysfunction. 56
23793442 2013
6
Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes. 56
19530192 2009
7
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. 56
10827106 2000
8
Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. 56
10340646 1999
9
Microcephaly and intracranial calcification: two new cases. 56
9112011 1997
10
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. 56
7977464 1994
11
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. 56
3757300 1986
12
Microcephaly and intracranial calcification in two brothers. 56
6876113 1983
13
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
14
Microglial Interferon Signaling and White Matter. 61
28540600 2017
15
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. 61
28761539 2017
16
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 61
27325888 2016
17
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
18
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. 61
25207129 2013
19
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be? 61
22772931 2012
20
Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation. 61
21762029 2012
21
[Genetic syndromes that mimic congenital infections: report of 2 cases]. 61
21963371 2011
22
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 61
21109224 2010
23
Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? 61
18084237 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
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. 61
11226724 2001

Variations for Pseudo-Torch Syndrome 1

ClinVar genetic disease variations for Pseudo-Torch Syndrome 1:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OCLN NM_001205254.2(OCLN):c.171_193del (p.Lys57fs)deletion Pathogenic 6750 rs1561334604 5:68805087-68805109 5:69509260-69509282
2 OCLN NM_001205254.2(OCLN):c.512dup (p.Tyr171Ter)duplication Pathogenic 6751 rs749237456 5:68805428-68805429 5:69509601-69509602
3 OCLN NM_001205254.2(OCLN):c.656T>C (p.Phe219Ser)SNV Pathogenic 6752 rs267606926 5:68805573-68805573 5:69509746-69509746
4 OCLN NM_001205254.2(OCLN):c.1037+1G>ASNV Pathogenic 436101 rs748442113 5:68830667-68830667 5:69534840-69534840
5 OCLN NM_001205254.2(OCLN):c.1037+5G>ASNV Pathogenic 211774 rs797045840 5:68830671-68830671 5:69534844-69534844
6 OCLN NM_001205254.2(OCLN):c.252del (p.Ser85fs)deletion Likely pathogenic 217516 rs863225128 5:68805168-68805168 5:69509341-69509341
7 OCLN NM_001205254.2(OCLN):c.546G>C (p.Leu182=)SNV Likely pathogenic 800964 5:68805463-68805463 5:69509636-69509636
8 OCLN NM_001205254.2(OCLN):c.452C>T (p.Ala151Val)SNV Conflicting interpretations of pathogenicity 159460 rs28562785 5:68805369-68805369 5:69509542-69509542
9 OCLN NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)deletion Conflicting interpretations of pathogenicity 211775 rs797045841 5:68805088-68805109 5:69509261-69509282
10 OCLN NM_001205254.2(OCLN):c.4T>C (p.Ser2Pro)SNV Uncertain significance 159461 rs113706384 5:68800075-68800075 5:69504248-69504248
11 OCLN NM_001205254.2(OCLN):c.384C>T (p.Tyr128=)SNV Uncertain significance 159459 rs150730577 5:68805301-68805301 5:69509474-69509474
12 OCLN NM_001205254.2(OCLN):c.1512G>C (p.Lys504Asn)SNV Benign 518367 rs776456723 5:68849441-68849441 5:69553614-69553614

UniProtKB/Swiss-Prot genetic disease variations for Pseudo-Torch Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 OCLN p.Phe219Ser VAR_064910 rs267606926

Copy number variations for Pseudo-Torch Syndrome 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 201393 5 68788118 70388897 Duplication OCLN Pseudo-TORCH syndrome

Expression for Pseudo-Torch Syndrome 1

Search GEO for disease gene expression data for Pseudo-Torch Syndrome 1.

Pathways for Pseudo-Torch Syndrome 1

Pathways related to Pseudo-Torch Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514
2 Tight junction hsa04530
3 Leukocyte transendothelial migration hsa04670

Pathways related to Pseudo-Torch Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 OCLN JAM3 COL4A1
2
Show member pathways
11.28 OCLN JAM3 COL4A1
3 11.23 OCLN MARVELD3 MARVELD2 JAM3 IGSF5

GO Terms for Pseudo-Torch Syndrome 1

Cellular components related to Pseudo-Torch Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.58 OCLN MARVELD2 IGSF5
2 cell junction GO:0030054 9.55 OCLN MARVELD3 MARVELD2 JAM3 IGSF5
3 cell-cell junction GO:0005911 9.54 OCLN JAM3 ARVCF
4 tight junction GO:0070160 9.32 OCLN JAM3
5 Schmidt-Lanterman incisure GO:0043220 9.26 MARVELD2 JAM3
6 bicellular tight junction GO:0005923 9.02 OCLN MARVELD3 MARVELD2 JAM3 IGSF5
7 paranodal junction GO:0033010 8.96 MARVELD2 JAM3

Biological processes related to Pseudo-Torch Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.43 JAM3 IGSF5 ARVCF
2 maintenance of permeability of blood-brain barrier GO:0035633 9.32 OCLN JAM3
3 protein localization to cell junction GO:1902414 9.16 MARVELD3 JAM3
4 bicellular tight junction assembly GO:0070830 9.13 OCLN MARVELD3 MARVELD2
5 cell-cell junction organization GO:0045216 8.8 OCLN MARVELD3 MARVELD2

Sources for Pseudo-Torch Syndrome 1

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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