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 ⁵⁸ ⁷⁶ ³⁰ ⁶

Ptorch2 ⁵⁸ ⁷⁶

Usp18 Deficiency ⁶⁰

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

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

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: ⁶⁰

Rare neurological diseases

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁸ 617397

MeSH ⁴⁵ D002114 D054220

Orphanet ⁶⁰ ORPHA481665

MedGen ⁴³ C4479376 CN241835

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Summaries for Pseudo-Torch Syndrome 2

OMIM : ⁵⁸ 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 aicardi-goutieres syndrome 2 and aicardi-goutieres syndrome 3. 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 seizures and elevated hepatic transaminase

UniProtKB/Swiss-Prot : ⁷⁶ 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

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

#	Related Disease	Score
1	aicardi-goutieres syndrome 2	10.0
2	aicardi-goutieres syndrome 3	10.0
3	aicardi-goutieres syndrome 4	10.0
4	aicardi-goutieres syndrome 5	10.0
5	aicardi-goutieres syndrome 6	10.0
6	congenital intrauterine infection-like syndrome	10.0
7	torch syndrome	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:

³³ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³³	occasional (7.5%)	HP:0001250
2	elevated hepatic transaminase ³³	occasional (7.5%)	HP:0002910
3	respiratory insufficiency ³³		HP:0002093
4	cerebral calcification ³³		HP:0002514
5	hepatomegaly ³³		HP:0002240
6	microcephaly ³³		HP:0000252
7	decreased liver function ³³		HP:0001410
8	ascites ³³		HP:0001541
9	patent ductus arteriosus ³³		HP:0001643
10	thrombocytopenia ³³		HP:0001873
11	ventriculomegaly ³³		HP:0002119
12	lactic acidosis ³³		HP:0003128
13	cerebellar hypoplasia ³³		HP:0001321
14	petechiae ³³		HP:0000967
15	lethargy ³³		HP:0001254
16	cerebral hemorrhage ³³		HP:0001342
17	polymicrogyria ³³		HP:0002126
18	generalized hypotonia ³³		HP:0001290
19	heterotopia ³³		HP:0002282
20	bradycardia ³³		HP:0001662

Symptoms via clinical synopsis from OMIM:

⁵⁸

Respiratory:
respiratory insufficiency

Abdomen External Features:
ascites

Cardiovascular Heart:
patent ductus arteriosus
bradycardia

Neurologic Central Nervous System:
cerebellar hypoplasia
lethargy
polymicrogyria
heterotopia
enlarged ventricles
more

Head And Neck Head:
small head circumference

Skeletal:
extracranial calcifications (in some patients)

Abdomen Liver:
hepatomegaly
liver dysfunction

Muscle Soft Tissue:
ascites
hypotonia

Hematology:
thrombocytopenia

Skin Nails Hair Skin:
petechiae

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 ³⁰	USP18

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Anatomical Context for Pseudo-Torch Syndrome 2

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

⁴²

Liver, Brain, Bone

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Publications for Pseudo-Torch Syndrome 2

Articles related to Pseudo-Torch Syndrome 2:

#	Title	Authors	Year
1	Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )	Meuwissen M.E....Mancini G.M.	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	1377.64	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	27325888 12833411

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Variations for Pseudo-Torch Syndrome 2

ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	USP18	NM_017414.3(USP18): c.652C> T (p.Gln218Ter)	single nucleotide variant	Pathogenic	rs1085307118	GRCh38	Chromosome 22, 18169868: 18169868
2	USP18	NM_017414.3(USP18): c.652C> T (p.Gln218Ter)	single nucleotide variant	Pathogenic	rs1085307118	GRCh37	Chromosome 22, 18652635: 18652635
3	USP18	USP18, 3-PRIME DEL	deletion	Pathogenic

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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