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pseudo-TORCH syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudo-TORCH syndrome 3

MONDO:0030044

Also known as:PTORCH3

Overview

GeneticsAutosomal recessive · STAT2 (chr 12)

OnsetCONGENITAL

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: Cerebral hemorrhage, Lymphadenitis, Enlarged heart (cardiomegaly), and Global developmental delay and others; and common findings: Cerebellar hypoplasia, Seizure, Acute kidney injury, and Congenital thrombocytopenia and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Cerebral hemorrhage, Seizure, Global developmental delay

Genetic Landscape

STAT2 function has not been fully characterized.

Pseudo-TORCH syndrome 3 is associated with mutations in the STAT2 gene on chromosome 12.

Diagnosis

Genetic testing for STAT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pseudo-TORCH syndrome 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 always present features, 5 common features.

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 3.

41 publications have been identified in PubMed for pseudo-TORCH syndrome 3. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	11	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618886

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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pseudo-TORCH syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications