Pseudo-Torch Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PTORCH1 MCID: PSD106 MIFTS: 38	Pseudo-Torch Syndrome 1 (PTORCH1) Categories: Blood diseases, Bone diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Liver diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 251290

Disease Ontology ¹² DOID:0050656

Orphanet ⁵⁹ ORPHA1229

UMLS via Orphanet ⁷⁴ C2931662 C3489725

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C3489725

MeSH ⁴⁴ D002114 D054220

KEGG ³⁷ H00840

SNOMED-CT via HPO ⁶⁹ 258211005 236423003 42399005 more

UMLS ⁷³ C3489725 C2931662

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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...

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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
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:

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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

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Drugs & Therapeutics for Pseudo-Torch Syndrome 1

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

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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

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Anatomical Context for Pseudo-Torch Syndrome 1

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

⁴¹

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

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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 )	Borges-Medeiros R....Mendes de Oliveira J.R.	2018
2	Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. ( 28179633 )	Abdel-Hamid M.S....Zaki M.S.	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 )	O'Driscoll M.C....Crow Y.J.	2010

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Genes for Pseudo-Torch Syndrome 1

Genes related to Pseudo-Torch Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OCLN	Occludin	Protein Coding	1684.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20727516 19012351
2	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	15.75	DISEASES inferred ¹⁵

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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

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Expression for Pseudo-Torch Syndrome 1

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

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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

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

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	12.39	COL4A1 OCLN
2	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	11.51	COL4A1 OCLN
3	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	11.26	COL4A1 OCLN
4	Blood-Brain Barrier Pathway: Anatomy ⁶⁵ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview ⁶⁵	10.78	COL4A1 OCLN

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GO Terms for Pseudo-Torch Syndrome 1

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Sources for Pseudo-Torch Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Pseudo-Torch Syndrome 1 (PTORCH1)

Aliases & Classifications for Pseudo-Torch Syndrome 1

MalaCards integrated aliases for Pseudo-Torch Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pseudo-Torch Syndrome 1

Related Diseases for Pseudo-Torch Syndrome 1

Diseases in the Torch Syndrome family:

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

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

Symptoms & Phenotypes for Pseudo-Torch Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Pseudo-Torch Syndrome 1:

UMLS symptoms related to Pseudo-Torch Syndrome 1:

Drugs & Therapeutics for Pseudo-Torch Syndrome 1

Genetic Tests for Pseudo-Torch Syndrome 1

Genetic tests related to Pseudo-Torch Syndrome 1:

Anatomical Context for Pseudo-Torch Syndrome 1

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

Publications for Pseudo-Torch Syndrome 1

Articles related to Pseudo-Torch Syndrome 1:

Genes for Pseudo-Torch Syndrome 1

Genes related to Pseudo-Torch Syndrome 1 (1 elite genes):

Variations for Pseudo-Torch Syndrome 1

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

ClinVar genetic disease variations for Pseudo-Torch Syndrome 1:

Expression for Pseudo-Torch Syndrome 1

Pathways for Pseudo-Torch Syndrome 1

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

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

GO Terms for Pseudo-Torch Syndrome 1

Sources for Pseudo-Torch Syndrome 1