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pseudo-TORCH syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudo-TORCH syndrome 2

MONDO:0018828

Also known as:PTORCH2USP18 deficiency

Overview

GeneticsAutosomal recessive · USP18 (chr 22)

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Fetal distress, Lateral ventricle dilatation, Acute respiratory distress syndrome, and Difficulty breathing (respiratory insufficiency); and very common findings: Seizure and Cerebral hemorrhage. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Enlarged brain ventricles (ventriculomegaly), Cerebral calcification

Genetic Landscape

USP18 function has not been fully characterized.

Pseudo-TORCH syndrome 2 is associated with mutations in the USP18 gene on chromosome 22.

Diagnosis

Genetic testing for USP18 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pseudo-TORCH syndrome 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pseudo-TORCH syndrome 2.

8 publications have been identified in PubMed for pseudo-TORCH syndrome 2. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (38%), and Diagnostic / Biomarker (13%).

Recent Publications

Wu QQ (2026). [PMID: 41953055](https://pubmed.ncbi.nlm.nih.gov/41953055/). *Mil Med Res*. [Basic Science / Preclinical]
Wang C (2026). [PMID: 42111157](https://pubmed.ncbi.nlm.nih.gov/42111157/). *iScience*. [Basic Science / Preclinical]
Alattas A (2025). [PMID: 40937018](https://pubmed.ncbi.nlm.nih.gov/40937018/). *Cureus*. [Case Report / Case Series]
Zhang H (2025). [PMID: 41354823](https://pubmed.ncbi.nlm.nih.gov/41354823/). *Respir Res*. [Basic Science / Preclinical]
Gowda VK (2025). [PMID: 41198138](https://pubmed.ncbi.nlm.nih.gov/41198138/). *Clin Dysmorphol*. [Case Report / Case Series]
Sun X (2025). [PMID: 40977694](https://pubmed.ncbi.nlm.nih.gov/40977694/). *Front Immunol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617397

Orphanet

European rare disease database

Orphanet:481665

GARD

Genetic and Rare Diseases Info Center

GARD:17875

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pseudo-TORCH syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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