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GTR Home > Conditions/Phenotypes > Pseudo-TORCH syndrome 2

Pseudo-TORCH syndrome 2

Synonyms
USP18 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Pseudo-TORCH syndrome-2 (PTORCH2) 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). [from OMIM]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ISG43, PTORCH2, UBP43, USP18
    Summary: ubiquitin specific peptidase 18

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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