ORPHA:481665
Pseudo-TORCH syndrome type 2
Also known as: Pseudo-TORCH syndrome due to USP18 deficiency · USP18-related pseudo-TORCH syndrome · PTORCH2 · Pseudo-TORCH syndrome-2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
22
37.1th percentile
Trials
0
Interventional, condition-specific
Researchers
155
Distinct authors in sample
Gene link
USP18
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have and respiratory insufficiency and die in infancy.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018828
- OMIM:617397
- UMLS:C4479376
Additional Mondo synonyms (1)
pseudo-TORCH syndrome 2
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — USP18
- LiteraturePresent
22 matched papers (20 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (USP18).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
22
22 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
22 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
20 in the last 10 years · high confidence · 37.1th percentile (publications denominator)
Phrase hits: 22 · MeSH hits: 0
Who's working on it?
155
Distinct author names in 22 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Abu Iram RI1 paper · 2022
College of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Papers in Europe PMC - 02Abu Rahma BI1 paper · 2022
College of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Papers in Europe PMC - 03Abuawwad EM1 paper · 2022
College of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Papers in Europe PMC - 04Abunejma FM1 paper · 2022
Palestinian Red Crescent Hospital, Hebron, State of Palestine.
Papers in Europe PMC - 05
- 06
- 07Alarcón A1 paper · 2025
Department of Neonatology, Hospital Sant Joan de Déu, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine), Barcelona, Spain.
Papers in Europe PMC - 08Alattas A1 paper · 2025
Neonatology, Prince Sultan Military Medical City, Riyadh, SAU.
Papers in Europe PMC - 09Alexandrou A1 paper · 2025
The Cyprus Institute of Neurology and Genetics, Cytogenetics and Genomics, Nicosia, Cyprus.
Papers in Europe PMC - 10Alsamnan M1 paper · 2025
Neonatology, Prince Sultan Military Medical City, Riyadh, SAU.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category pseudo-TORCH syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: pseudo-TORCH syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Pseudo-TORCH syndrome type 2" OR "Pseudo-TORCH syndrome due to USP18 deficiency" OR "USP18-related pseudo-TORCH syndrome" OR "PTORCH2" OR "Pseudo-TORCH syndrome-2" OR "pseudo-TORCH syndrome 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pseudo-TORCH syndrome type 2" OR "Pseudo-TORCH syndrome due to USP18 deficiency" OR "USP18-related pseudo-TORCH syndrome" OR "PTORCH2" OR "Pseudo-TORCH syndrome-2" OR "pseudo-TORCH syndrome 2" OR "USP18"
Recall-expansion terms: USP18
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"pseudo-TORCH syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:16:01.098Z