PTORCH1
MCID: PSD106
MIFTS: 38

Pseudo-Torch Syndrome 1 (PTORCH1)

Categories: Blood diseases, Bone diseases, Genetic 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 57 12 75 15
Band-Like Calcification with Simplified Gyration and Polymicrogyria 57 12 75 37 29 13 6 40
Pseudo-Torch Syndrome 57 76 54 59 75 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

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)

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 aicardi-goutieres syndrome 1, 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 skin, brain and liver, and related phenotypes are seizures and spasticity

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.

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 12.6
2 aicardi-goutieres syndrome 1 12.0
3 aicardi-goutieres syndrome 2 11.8
4 aicardi-goutieres syndrome 3 11.8
5 aicardi-goutieres syndrome 4 11.8
6 aicardi-goutieres syndrome 5 11.8
7 aicardi-goutieres syndrome 6 11.8
8 congenital intrauterine infection-like syndrome 11.8
9 pseudo-torch syndrome 2 11.1
10 polymicrogyria 10.7
11 torch syndrome 10.4
12 microcephaly 10.2
13 dandy-walker complex 10.1

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

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

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

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 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
Skin, Brain, Liver, Kidney, Bone, Testes, Cerebellum

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 NM_002538.3(OCLN): c.171_193del (p.Lys57Asnfs) deletion Pathogenic GRCh38 Chromosome 5, 69509261: 69509283
2 OCLN NM_002538.3(OCLN): c.171_193del (p.Lys57Asnfs) deletion Pathogenic GRCh37 Chromosome 5, 68805088: 68805110
3 OCLN NM_002538.3: c.512dupA duplication Pathogenic
4 OCLN NM_002538.3(OCLN): c.656T> C (p.Phe219Ser) single nucleotide variant Pathogenic rs267606926 GRCh37 Chromosome 5, 68805573: 68805573
5 OCLN NM_002538.3(OCLN): c.656T> C (p.Phe219Ser) single nucleotide variant Pathogenic rs267606926 GRCh38 Chromosome 5, 69509746: 69509746
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 GRCh38 Chromosome 5, 69534840: 69534840
19 OCLN NM_002538.3(OCLN): c.1037+1G> A single nucleotide variant Pathogenic rs748442113 GRCh37 Chromosome 5, 68830667: 68830667
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

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

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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