RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:306547

Porencephaly-microcephaly-bilateral congenital cataract syndrome

low confidenceDisorder

Publications

2,139

Trials

0

Interventional, condition-specific

Researchers

140

Distinct authors in sample

Gene link

JAM3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, central nervous system syndrome characterized by bilateral cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and . and renal anomalies have also been reported.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

porencephaly-microcephaly-bilateral congenital cataract syndrome

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — JAM3

  2. LiteraturePresent

    2,139 matched papers (1,539 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Seizure; Ectopic kidney; Hepatomegaly) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (JAM3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0013394

  • Seizure
  • Ectopic kidney
  • Hepatomegaly
  • Secondary microcephaly
  • Ventricular septal defect

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,139

2,139 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,139 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,539 in the last 10 years · low confidence

Phrase hits: 15 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

140

Distinct author names in 15 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.

  1. 01
    Azevedo RDSDS2 papers · 2025

    Hospital Geral de Belém, Belém 66050-450, PA, Brazil.

    Papers in Europe PMC
  2. 02
    Abeche AM1 paper · 2025

    Brazilian Teratogen Information System, SIAT, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-903, RS, Brazil.

    Papers in Europe PMC
  3. 03
    Abrams TA1 paper · 2021

    Dana-Farber Brigham and Women's Cancer Center, Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  4. 04
    Al-Hayek A1 paper · 2010
    Papers in Europe PMC
  5. 05
    Bardeesy N1 paper · 2021

    Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, Massachusetts. Brian_Wolpin@dfci.harvard.edu Bardeesy.Nabeel@mgh.harvard.edu.

    Papers in Europe PMC
  6. 06
    Barnett C1 paper · 2018

    Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, SA, Australia.

    Papers in Europe PMC
  7. 07
    Barreto ARF1 paper · 2025

    Hospital Universitário Walter Cantídio (HUWC), Radiology Department and Universidade Federal do Ceará (UFC), Fortaleza 60020-181, CE, Brazil.

    Papers in Europe PMC
  8. 08
    Batta AK1 paper · 1999
    Papers in Europe PMC
  9. 09
    Bhattacharya A1 paper · 2013

    Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.

    Papers in Europe PMC
  10. 10
    Borges BDCB1 paper · 2025

    Secretaria de Estado de Saúde do Acre (SESACRE), Rio Branco 69900-376, AC, Brazil.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Porencephaly-microcephaly-bilateral congenital cataract syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Porencephaly-microcephaly-bilateral congenital cataract syndrome") OR ("JAM3" OR "JAM3 syndrome" OR "JAM3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Porencephaly-microcephaly-bilateral congenital cataract syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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
  • Publication count (2139) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:47:51.899Z