MCID: PSD106
MIFTS: 45

Pseudo-Torch Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Bone diseases

Aliases & Classifications for Pseudo-Torch Syndrome 1

MalaCards integrated aliases for Pseudo-Torch Syndrome 1:

Name: Pseudo-Torch Syndrome 1 57 12 75
Band-Like Calcification with Simplified Gyration and Polymicrogyria 57 12 75 37 29 13 6 40
Pseudo-Torch Syndrome 57 76 54 59 75 15 73
Baraitser Brett Piesowicz Syndrome 75 73
Ptorch1 57 75
Pseudo-Torch Syndrome; Band-Like Calcification with Simplified Gyration and Polymicrogyria; Blcpmg 57
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome 59
Bilateral Band-Like Calcification with Polymicrogyria 59
Congenital Intrauterine Infection-Like Syndrome 59
Baraitser-Brett-Piesowicz Syndrome 59
Baraitser-Reardon Syndrome 59
Blc-Pmg 59
Blcpmg 75

Characteristics:

Orphanet epidemiological data:

59
congenital intrauterine infection-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
pseudo-torch syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Pseudo-Torch Syndrome 1

NINDS : 54 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 band-like calcification with simplified gyration and polymicrogyria, is related to baraitser brett piesowicz syndrome 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 microcephaly and seizures

Disease Ontology : 12 An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria.

OMIM : 57 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, severe developmental delay, 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 baraitser brett piesowicz syndrome 12.5
2 congenital intrauterine infection-like syndrome 11.6
3 pseudo-torch syndrome 2 11.0
4 polymicrogyria 10.6
5 oral erosive lichen 9.6 IFNA1 IFNB1
6 newcastle disease 9.6 IFNA1 IFNB1
7 torch syndrome 9.5 DKC1 OCLN USP18
8 microphthalmia with limb anomalies 9.5 IFNA1 IFNB1
9 severe acute respiratory syndrome 9.5 IFNA1 IFNB1
10 relapsing-remitting multiple sclerosis 9.4 IFNA1 IFNB1
11 demyelinating disease 9.3 IFNA1 IFNB1
12 measles 9.2 IFNA1 IFNB1
13 viral infectious disease 9.0 IFNA1 IFNB1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
spasticity
ventriculomegaly
cerebellar hypoplasia
pachygyria
polymicrogyria
more
Head And Neck Nose:
anteverted nares

Head And Neck Mouth:
high-arched palate

AbdomenSpleen:
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

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

Growth Other:
failure to thrive

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

Human phenotypes related to Pseudo-Torch Syndrome 1:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 Very frequent (99-80%) HP:0000252
2 seizures 59 32 Very frequent (99-80%) HP:0001250
3 spasticity 59 32 Very frequent (99-80%) HP:0001257
4 cerebral calcification 59 32 Very frequent (99-80%) HP:0002514
5 hyperreflexia 59 Very frequent (99-80%)
6 cerebral cortical atrophy 59 Frequent (79-30%)
7 abnormality of movement 59 Frequent (79-30%)
8 renal insufficiency 32 occasional (7.5%) HP:0000083
9 high palate 32 HP:0000218
10 microretrognathia 32 HP:0000308
11 sloping forehead 32 HP:0000340
12 long philtrum 32 HP:0000343
13 low-set ears 32 HP:0000369
14 anteverted nares 32 HP:0000463
15 cataract 32 occasional (7.5%) HP:0000518
16 nystagmus 32 HP:0000639
17 jaundice 32 HP:0000952
18 petechiae 32 HP:0000967
19 global developmental delay 32 HP:0001263
20 pachygyria 32 HP:0001302
21 cerebellar hypoplasia 32 HP:0001321
22 decreased liver function 32 HP:0001410
23 failure to thrive 32 HP:0001508
24 splenomegaly 32 HP:0001744
25 thrombocytopenia 32 HP:0001873
26 ventriculomegaly 32 HP:0002119
27 polymicrogyria 32 HP:0002126
28 intellectual disability, profound 32 HP:0002187
29 hepatomegaly 32 HP:0002240
30 elevated hepatic transaminases 32 HP:0002910
31 increased csf protein 32 HP:0002922
32 opacification of the corneal stroma 32 occasional (7.5%) HP:0007759
33 muscular hypotonia of the trunk 32 HP:0008936

UMLS symptoms related to Pseudo-Torch Syndrome 1:


muscle spasticity

MGI Mouse Phenotypes related to Pseudo-Torch Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 COL4A1 DKC1 IFNB1 JAM3 OCLN USP18
2 immune system MP:0005387 9.1 COL4A1 DKC1 IFNB1 JAM3 OCLN USP18

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 Band-Like Calcification with Simplified Gyration and Polymicrogyria 29 OCLN

Anatomical Context for Pseudo-Torch Syndrome 1

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

41
Liver, Brain, Testes, Spleen, Eye, Skin, Pons

Publications for Pseudo-Torch Syndrome 1

Articles related to Pseudo-Torch Syndrome 1:

# Title Authors Year
1
A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 29192239 )
2018
2
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 28179633 )
2017
3
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria. ( 28386946 )
2017
4
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. ( 26689621 )
2016
5
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. ( 20727516 )
2010

Variations for Pseudo-Torch Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 OCLN p.Phe219Ser VAR_064910 rs267606926

ClinVar genetic disease variations for Pseudo-Torch Syndrome 1:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 OCLN OCLN, 22-BP DEL, NT171 deletion Pathogenic
2 OCLN OCLN, 1-BP DUP, 512A duplication Pathogenic
3 OCLN NM_002538.3(OCLN): c.656T> C (p.Phe219Ser) single nucleotide variant Pathogenic rs267606926 GRCh37 Chromosome 5, 68805573: 68805573
4 OCLN NM_002538.3(OCLN): c.656T> C (p.Phe219Ser) single nucleotide variant Pathogenic rs267606926 GRCh38 Chromosome 5, 69509746: 69509746
5 OCLN OCLN, IVS5DS, G-A, +5 single nucleotide variant Pathogenic
6 OCLN NM_002538.3(OCLN): c.4T> C (p.Ser2Pro) single nucleotide variant Uncertain significance rs113706384 GRCh37 Chromosome 5, 68800075: 68800075
7 OCLN NM_002538.3(OCLN): c.4T> C (p.Ser2Pro) single nucleotide variant Uncertain significance rs113706384 GRCh38 Chromosome 5, 69504248: 69504248
8 OCLN NM_002538.3(OCLN): c.384C> T (p.Tyr128=) single nucleotide variant Uncertain significance rs150730577 GRCh37 Chromosome 5, 68805301: 68805301
9 OCLN NM_002538.3(OCLN): c.384C> T (p.Tyr128=) single nucleotide variant Uncertain significance rs150730577 GRCh38 Chromosome 5, 69509474: 69509474
10 OCLN NM_002538.3(OCLN): c.452C> T (p.Ala151Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28562785 GRCh37 Chromosome 5, 68805369: 68805369
11 OCLN NM_002538.3(OCLN): c.452C> T (p.Ala151Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28562785 GRCh38 Chromosome 5, 69509542: 69509542
12 OCLN NM_002538.3(OCLN): c.173_194del22 (p.Trp58Phefs) deletion Pathogenic rs797045841 GRCh38 Chromosome 5, 69509263: 69509284
13 OCLN NM_002538.3(OCLN): c.173_194del22 (p.Trp58Phefs) deletion Pathogenic rs797045841 GRCh37 Chromosome 5, 68805090: 68805111
14 OCLN NM_002538.3(OCLN): c.1037+5G> A single nucleotide variant Pathogenic rs797045840 GRCh37 Chromosome 5, 68830671: 68830671
15 OCLN NM_002538.3(OCLN): c.1037+5G> A single nucleotide variant Pathogenic rs797045840 GRCh38 Chromosome 5, 69534844: 69534844
16 OCLN NM_002538.3(OCLN): c.252delC (p.Ser85Profs) deletion Likely pathogenic rs863225128 GRCh38 Chromosome 5, 69509342: 69509342
17 OCLN NM_002538.3(OCLN): c.252delC (p.Ser85Profs) deletion Likely pathogenic rs863225128 GRCh37 Chromosome 5, 68805169: 68805169
18 OCLN NM_002538.3(OCLN): c.1037+1G> A single nucleotide variant Pathogenic rs748442113 GRCh37 Chromosome 5, 68830667: 68830667
19 OCLN NM_002538.3(OCLN): c.1037+1G> A single nucleotide variant Pathogenic rs748442113 GRCh38 Chromosome 5, 69534840: 69534840
20 OCLN NM_002538.3(OCLN): c.1512G> C (p.Lys504Asn) single nucleotide variant Benign rs776456723 GRCh38 Chromosome 5, 69553614: 69553614
21 OCLN NM_002538.3(OCLN): c.1512G> C (p.Lys504Asn) single nucleotide variant Benign rs776456723 GRCh37 Chromosome 5, 68849441: 68849441

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

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514
2 Tight junction hsa04530
3 Leukocyte transendothelial migration hsa04670

GO Terms for Pseudo-Torch Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.58 IFNA1 IFNB1 JAM3
2 B cell differentiation GO:0030183 9.48 IFNA1 IFNB1
3 type I interferon signaling pathway GO:0060337 9.46 IFNA1 IFNB1
4 humoral immune response GO:0006959 9.43 IFNA1 IFNB1
5 response to exogenous dsRNA GO:0043330 9.37 IFNA1 IFNB1
6 B cell proliferation GO:0042100 9.32 IFNA1 IFNB1
7 T cell activation involved in immune response GO:0002286 9.26 IFNA1 IFNB1
8 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.16 IFNA1 IFNB1
9 natural killer cell activation involved in immune response GO:0002323 8.96 IFNA1 IFNB1
10 regulation of type I interferon-mediated signaling pathway GO:0060338 8.8 IFNA1 IFNB1 USP18

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor binding GO:0005126 8.96 IFNA1 IFNB1
2 type I interferon receptor binding GO:0005132 8.62 IFNA1 IFNB1

Sources for Pseudo-Torch Syndrome 1

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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