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ORPHA:377

Gorlin syndrome

medium confidenceDisorder

Also known as: Basal cell nevus syndrome · Gorlin-Goltz syndrome · NBCCS · Nevoid basal cell carcinoma syndrome

Publications

44,015

99th percentile

Trials

28

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

PTCH1, PTCH2, SUFU

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder due to transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

basal cell nevus syndrome · multiple basal cell carcinomas · nevoid basal cell cancer syndrome · nevoid basal cell carcinoma 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PTCH1, PTCH2, SUFU

  2. LiteraturePresent

    44,015 matched papers (29,300 in last 10 years) Source

  3. Phenotype characterisedPresent

    111 HPO annotations (e.g. Odontogenic keratocysts of the jaw; Basal cell carcinoma; Medulloblastoma) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. patidegib Source

  6. Interventional trialPresent

    28 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (PTCH1, PTCH2, SUFU).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

111

Associated phenotypes · MONDO:0007187

  • Odontogenic keratocysts of the jaw
  • Basal cell carcinoma
  • Medulloblastoma
  • Strabismus
  • Skin tags

Showing 5 of 111 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA patidegibNevoid Basal Cell Carcinoma Syndrome · 2017-07-19 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0007187

CTD chemicals (MyDisease.info)

3 associated chemicals · 21 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Antipsychotic Agents · therapeutic
  • HhAntag691 · therapeutic
  • Vitamin D · therapeutic

Pathways: cAMP signaling pathway; Hedgehog signaling pathway; Axon guidance; Hippo signaling pathway; Pathways in cancer; Proteoglycans in cancer; Basal cell carcinoma; Hedgehog signaling

MyDisease.info · MONDO:0007187

Literature

Is anyone studying this?

44,015

44,015 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

44,015 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).

29,300 in the last 10 years · medium confidence · 99th percentile (publications denominator)

Phrase hits: 6,069 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,136

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Dika E4 papers · 2026

    Oncologic Dermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Evans DG3 papers · 2025

    Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9WL, UK. gareth.evans@mft.nhs.uk.

    Papers in Europe PMC
  3. 03
    Lambertini M3 papers · 2024

    Oncologic Dermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

    Papers in Europe PMC
  4. 04
    Li C3 papers · 2026

    Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Provice, 510515, China.

    Papers in Europe PMC
  5. 05
    Li L3 papers · 2025

    Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, China.

    Papers in Europe PMC
  6. 06
    Passoni E3 papers · 2026

    Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Peris K3 papers · 2026

    Dermatologia, Dipartimento Di Medicina E Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Smith MJ3 papers · 2026

    Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9WL, UK.

    Papers in Europe PMC
  9. 09
    Venturi F3 papers · 2024

    Oncologic Dermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Wang Q3 papers · 2025

    Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

28

interventional trials for this specific condition

28 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

28 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.8th percentile).

medium confidence · 95.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

28 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

8 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (4)

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 Gorlin 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.

("Gorlin syndrome" OR "Basal cell nevus syndrome" OR "Gorlin-Goltz syndrome" OR "NBCCS" OR "Nevoid basal cell carcinoma syndrome" OR "multiple basal cell carcinomas" OR "nevoid basal cell cancer syndrome") OR ("PTCH1" OR "PTCH1 syndrome" OR "PTCH1-related" OR "PTCH2" OR "PTCH2 syndrome" OR "PTCH2-related" OR "SUFU" OR "SUFU syndrome" OR "SUFU-related")

Run this search on Europe PMC

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

"Gorlin syndrome" OR "Basal cell nevus syndrome" OR "Gorlin-Goltz syndrome" OR "NBCCS" OR "Nevoid basal cell carcinoma syndrome" OR "multiple basal cell carcinomas" OR "nevoid basal cell cancer syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 28 interventional · 8 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:37:56.468Z