Pseudo-Torch Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Pseudo-Torch Syndrome 2

MalaCards integrated aliases for Pseudo-Torch Syndrome 2:

Name: Pseudo-Torch Syndrome 2 ⁵⁶ ⁷³ ²⁹ ⁶

Ptorch2 ⁵⁶ ⁷³

Usp18 Deficiency ⁵⁸

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in early infancy
two unrelated families have been reported (last curated march 2017)

HPO:

³¹

pseudo-torch syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁶ 617397

OMIM Phenotypic Series ⁵⁶ PS251290

MeSH ⁴³ D002114 D054220

Orphanet ⁵⁸ ORPHA481665

MedGen ⁴¹ C4479376 CN241835

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Summaries for Pseudo-Torch Syndrome 2

OMIM : ⁵⁶ Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016). For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290). (617397)

MalaCards based summary : Pseudo-Torch Syndrome 2, also known as ptorch2, is related to pseudo-torch syndrome 1 and polymicrogyria with or without vascular-type ehlers-danlos syndrome. An important gene associated with Pseudo-Torch Syndrome 2 is USP18 (Ubiquitin Specific Peptidase 18). Affiliated tissues include liver, brain and bone, and related phenotypes are elevated hepatic transaminase and seizure

UniProtKB/Swiss-Prot : ⁷³ Pseudo-TORCH syndrome 2: An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent.

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Related Diseases for Pseudo-Torch Syndrome 2

Diseases in the Torch Syndrome family:

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

Diseases related to Pseudo-Torch Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score
1	pseudo-torch syndrome 1	10.0
2	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.0
3	microcephaly	10.0
4	hydrocephalus	10.0
5	respiratory failure	10.0
6	allergic hypersensitivity disease	10.0
7	cellulitis	10.0
8	polymicrogyria	10.0
9	congenital intrauterine infection-like syndrome	10.0
10	torch syndrome	10.0
11	type 1 interferonopathy	10.0

Graphical network of the top 20 diseases related to Pseudo-Torch Syndrome 2:

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Symptoms & Phenotypes for Pseudo-Torch Syndrome 2

Human phenotypes related to Pseudo-Torch Syndrome 2:

³¹ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	elevated hepatic transaminase ³¹	occasional (7.5%)	HP:0002910
2	seizure ³¹	occasional (7.5%)	HP:0001250
3	hepatomegaly ³¹		HP:0002240
4	microcephaly ³¹		HP:0000252
5	ascites ³¹		HP:0001541
6	respiratory insufficiency ³¹		HP:0002093
7	thrombocytopenia ³¹		HP:0001873
8	patent ductus arteriosus ³¹		HP:0001643
9	ventriculomegaly ³¹		HP:0002119
10	petechiae ³¹		HP:0000967
11	cerebral calcification ³¹		HP:0002514
12	polymicrogyria ³¹		HP:0002126
13	cerebellar hypoplasia ³¹		HP:0001321
14	lethargy ³¹		HP:0001254
15	cerebral hemorrhage ³¹		HP:0001342
16	lactic acidosis ³¹		HP:0003128
17	gray matter heterotopia ³¹		HP:0002282
18	generalized hypotonia ³¹		HP:0001290
19	decreased liver function ³¹		HP:0001410
20	bradycardia ³¹		HP:0001662

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Liver:
hepatomegaly
liver dysfunction

Muscle Soft Tissue:
ascites
hypotonia

Hematology:
thrombocytopenia

Skin Nails Hair Skin:
petechiae

Head And Neck Head:
small head circumference

Skeletal:
extracranial calcifications (in some patients)

Abdomen External Features:
ascites

Respiratory:
respiratory insufficiency

Cardiovascular Heart:
patent ductus arteriosus
bradycardia

Neurologic Central Nervous System:
polymicrogyria
cerebellar hypoplasia
lethargy
enlarged ventricles
seizures (in some patients)
more

Laboratory Abnormalities:
abnormal liver enzymes (in some patients)
lactic acidosis (n some patients)

Immunology:
induction of the immune system
increased interferon-1 stimulated gene transcription
abnormal activation of the immune system without evidence of infection

Clinical features from OMIM:

617397

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Drugs & Therapeutics for Pseudo-Torch Syndrome 2

Search Clinical Trials , NIH Clinical Center for Pseudo-Torch Syndrome 2

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Genetic Tests for Pseudo-Torch Syndrome 2

Genetic tests related to Pseudo-Torch Syndrome 2:

#	Genetic test	Affiliating Genes
1	Pseudo-Torch Syndrome 2 ²⁹	USP18

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Anatomical Context for Pseudo-Torch Syndrome 2

MalaCards organs/tissues related to Pseudo-Torch Syndrome 2:

⁴⁰

Liver, Brain, Bone

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Publications for Pseudo-Torch Syndrome 2

Articles related to Pseudo-Torch Syndrome 2:

#	Title	Authors	PMID	Year
1	JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency. ⁶¹ ⁵⁶ ⁶	Alsohime F...Alangari AA	31940699	2020
2	Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ⁶¹ ⁵⁶ ⁶	Meuwissen ME...Mancini GM	27325888	2016
3	Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ⁶ ⁵⁶	Knoblauch H...Tinschert S	12833411	2003
4	Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. ⁶¹	Gruber C...Bogunovic D	32092142	2020
5	Type I interferon pathway in CNS homeostasis and neurological disorders. ⁶¹	Blank T...Prinz M	28519900	2017
6	USP18 recruits USP20 to promote innate antiviral response through deubiquitinating STING/MITA. ⁶¹	Zhang M...Zhong B	27801882	2016

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Genes for Pseudo-Torch Syndrome 2

Genes related to Pseudo-Torch Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USP18	Ubiquitin Specific Peptidase 18	Protein Coding	1367.53	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	12833411 27325888 31940699

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Variations for Pseudo-Torch Syndrome 2

ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	USP18	NM_017414.4(USP18):c.652C>T (p.Gln218Ter)	SNV	Pathogenic	417774	rs1085307118	22:18652635-18652635	22:18169868-18169868
2	USP18	USP18, 3-PRIME DEL	deletion	Pathogenic	417775
3	USP18	NM_017414.4(USP18):c.1073+1G>A	SNV	Pathogenic	810842		22:18656610-18656610	22:18173843-18173843

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Expression for Pseudo-Torch Syndrome 2

Search GEO for disease gene expression data for Pseudo-Torch Syndrome 2.

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Pathways for Pseudo-Torch Syndrome 2

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GO Terms for Pseudo-Torch Syndrome 2

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Pseudo-Torch Syndrome 2 (PTORCH2)

Aliases & Classifications for Pseudo-Torch Syndrome 2

MalaCards integrated aliases for Pseudo-Torch Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pseudo-Torch Syndrome 2

Related Diseases for Pseudo-Torch Syndrome 2

Diseases in the Torch Syndrome family:

Diseases related to Pseudo-Torch Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Pseudo-Torch Syndrome 2:

Symptoms & Phenotypes for Pseudo-Torch Syndrome 2

Human phenotypes related to Pseudo-Torch Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Pseudo-Torch Syndrome 2

Genetic Tests for Pseudo-Torch Syndrome 2

Genetic tests related to Pseudo-Torch Syndrome 2:

Anatomical Context for Pseudo-Torch Syndrome 2

MalaCards organs/tissues related to Pseudo-Torch Syndrome 2:

Publications for Pseudo-Torch Syndrome 2

Articles related to Pseudo-Torch Syndrome 2:

Genes for Pseudo-Torch Syndrome 2

Genes related to Pseudo-Torch Syndrome 2 (1 elite genes):

Variations for Pseudo-Torch Syndrome 2

ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:

Expression for Pseudo-Torch Syndrome 2

Pathways for Pseudo-Torch Syndrome 2

GO Terms for Pseudo-Torch Syndrome 2

Sources for Pseudo-Torch Syndrome 2