ORPHA:293822
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Publications
18,255
Trials
0
Interventional, condition-specific
Researchers
69
Distinct authors in sample
Gene link
MITF
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
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:0013759
- OMIM:614456
- UMLS:C3152204
Additional Mondo synonyms (2)
melanoma, cutaneous malignant, susceptibility to, 8 · melanoma, cutaneous malignant, susceptibility to, type 8
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.
- Gene identifiedPresent
Strong — MITF
- LiteraturePresent
18,255 matched papers (12,739 in last 10 years) Source
- Phenotype characterisedPresent
1 HPO annotations (e.g. Cutaneous melanoma) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (MITF).
GenCC classification: Strong.
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?
18,255
18,255 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.
18,255 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).
12,739 in the last 10 years · low confidence
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
69
Distinct author names in 5 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.
- 01Adey A1 paper · 2023
Cancer Early Detection Advanced Research Center, Knight Cancer Institute, Oregon Health & Science University, Portland, OR 97201, USA; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Papers in Europe PMC - 02AlBouzidi A1 paper · 2021
Laboratoire d'Anatomopathologie, Hôpital Militaire d'Instruction Mohammed V, Faculté de Médecine et de Pharmacie, Rabat 10000, Maroc.
Papers in Europe PMC - 03Andreescu N1 paper · 2020
Center of Genomic Medicine, Medical Genetics Discipline, University of Medicine and Pharmacy "Victor Babes", Timisoara, 300041, Romania.
Papers in Europe PMC - 04Anur P1 paper · 2023
Cancer Early Detection Advanced Research Center, Knight Cancer Institute, Oregon Health & Science University, Portland, OR 97201, USA.
Papers in Europe PMC - 05Arghirescu S1 paper · 2020
Pediatric Department, University of Medicine and Pharmacy "Victor Babes", Timisoara, 300041, Romania.
Papers in Europe PMC - 06Badaoui B1 paper · 2021
Laboratoire de Biodiversité, Ecologie et Génome, Faculté des Sciences, Université Mohammed V, Rabat, Maroc.
Papers in Europe PMC - 07Bidet Y1 paper · 2021
Laboratoire Diagnostic Génétique et Moléculaire, Centre Jean Perrin, 58 rue Montalembert, Clermont-Ferrand, France.
Papers in Europe PMC - 08Bignon YJ1 paper · 2021
Laboratoire Diagnostic Génétique et Moléculaire, Centre Jean Perrin, 58 rue Montalembert, Clermont-Ferrand, France.
Papers in Europe PMC - 09Brown K1 paper · 2023
Knight Cancer Institute, Community Outreach and Engagement, Oregon Health & Science University, Portland, OR 97201, USA.
Papers in Europe PMC - 10Buitrago J1 paper · 2023
Integrated Genomics Laboratory, Oregon Health & Science University, Portland, OR 97239, USA.
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 117 · after dedupe 117 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 117 · 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).
Uncertain / not reviewed (117)
- ctis·2025-523267-38-00·Authorised·Effectiveness of Trazodone on Emotional Blunting in Patients with Major Depressive: a Phase IV, Open-label, clinical study
skipped — LLM skipped (--skip-llm)
- ctis·2026-525382-47-00·Authorised·A Phase 2 Study of Alisertib in Combination with Paclitaxel in Patients with Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2026-526821-16-00·Authorised·Melanoma-TBK1-inhibitor enhanced Immuno Therapy with Checkpoint Inhibitors: a Phase IB/II Trial in Unresectable Stage III or Stage IV Cutaneous Melanoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-524977-18-00·Authorised·Phase I/II Trial to Determine Safety and Efficacy of non-Viral Allogeneic Dual CD123/33-Chimeric Antigen Receptor CIK (CARCIK-CD123/33) Cells in Adult and Pediatric Patients with Relapse/Refractory Acute Myeloid Leukemia (AML) and Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524335-39-00·Authorised·A Phase 3, Randomized, Open-label Study to Evaluate the Efficacy and Safety of Switching to Long-acting Antiretroviral Therapy of Broadly Neutralizing Antibodies Teropavimab and Zinlirvimab in Combination With the Capsid Inhibitor Lenacapavir Twice-Yearly Versus Cabotegravir and Rilpivirine Every 8 Weeks in Virologically Suppressed Adults With HIV-1 on Oral Daily Antiretroviral Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524873-17-00·Authorised·A Phase 3, Double-blinded, Vehicle-controlled Trial to Investigate the Efficacy and Safety of Twice-daily Delgocitinib Cream in Adult Participants with Lichen Sclerosus During a 12-Week Initial Treatment Period Followed by a 40-Week Continuation Treatment Period
skipped — LLM skipped (--skip-llm)
- ctis·2025-524744-36-00·Authorised·DOXYCYCLINE PENETRATION INTO BONE AND JOINT.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523662-24-00·Authorised·Phase 3 Single-Arm Open-Label Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent Subjects (age 12 to <18 years) with Homozygous Familial Hypercholesterolemia (SPRUCE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524169-26-00·Authorised·An open label multicenter phase II study to investigate the efficacy, safety and
tolerability of the Obe-cel in patients with minimal residual disease (MRD) of
Philadelphia negative (Ph neg) B-precursor acute lymphoblastic leukaemia (B-ALL) - GMALL-OBECEL
skipped — LLM skipped (--skip-llm)
- ctis·2026-526225-18-00·Authorised·A phase I/IIa safety, dose finding and feasibility trial of CD30/CEA CART in patients with liver metastases from CEA positive colorectal adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-524576-28-00·Authorised·Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525020-99-00·Authorised·PROPHY-SEIN - Evaluation of the effect of antibiotic prophylaxis during lumpectomy for breast cancer: prospective randomised double-blind noninferiority study of placebo vs cefazolin
skipped — LLM skipped (--skip-llm)
- ctis·2025-524403-80-00·Authorised·A Phase 3, Randomized, Open-Label, Multicenter Study Evaluating the Efficacy of KITE-753 Versus Axicabtagene Ciloleucel in Participants with Relapsed or Refractory Large B-Cell Lymphoma After First-Line Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2026-526961-76-00·Authorised·FLAsH-IV-AML: A phase I/II multi-center study to assess the tolerability and efficacy of the addition of hydroxyurea to salvage treatment with fludarabine, ara-C, idarubicin and venetoclax for adults with relapsed or refractory acute myeloid leukemia
skipped — LLM skipped (--skip-llm)
- ctis·2024-517888-23-00·Authorised·Model-informed precision dosing for linezolid: a randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-525105-20-00·Authorised·A Phase 1/2, Open-Label, Platform Study to Evaluate Safety and Efficacy of the BCL-2 Inhibitor Surzetoclax (ABBV-453) given as Monotherapy or in Combination with Antimyeloma Regimens in Subjects with Multiple Myeloma
skipped — LLM skipped (--skip-llm)
- ctis·2025-523725-17-00·Authorised·Inducing durable immunological control of HIV-1 through administration of long-acting broadly neutralizing antibodies and low-dose anti-PD-1 – a randomized, double-blinded, placebo-controlled trial (the IDUNN trial)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523293-17-00·Authorised·SUNCET: Low sodium oxybate Use for Nocturnal Cluster headache: safety, Efficacy and Tolerability of XYWAV - a Phase 2 Randomized, Double-Blind, Placebo-Controlled, bi-center Study
skipped — LLM skipped (--skip-llm)
- ctis·2026-526444-13-01·Authorised·Preventing urinary tract infections in infants and young children with probiotic E. coli Nissle: FinNissle randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522939-33-00·Authorised·Master Protocol Full Title- A Master Protocol for an Exploratory, Phase 2a, Proof-of-Concept Platform Study to Evaluate the Safety, Tolerability, and Efficacy of Multiple Regimens in Participants With Myasthenia Gravis.
ISA 2 to Master Protocol ARGX-999-2-MG-2000 – an Exploratory, Phase 2a, Randomized, Double-Blinded, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of Empasiprubart IV Monotherapy in Participants With AChR-Ab Seropositive Generalized Myasthenia Gravis
skipped — LLM skipped (--skip-llm)
- ctis·2026-526105-15-00·Authorised·A multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Efficacy and Safety of Subcutaneous Immunotherapy (Beltavac®) with Polymerized Allergenic Extract of a Mixture of Dermatophagoides and Blomia tropicalis in Patients with Allergic Rhinitis/rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
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 MITF-related melanoma and renal cell carcinoma predisposition syndrome — check Associations / patient organisations on that page.
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.
("MITF-related melanoma and renal cell carcinoma predisposition syndrome" OR "melanoma, cutaneous malignant, susceptibility to, 8" OR "melanoma, cutaneous malignant, susceptibility to, type 8") OR ("MITF" OR "MITF syndrome" OR "MITF-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MITF-related melanoma and renal cell carcinoma predisposition syndrome" OR "melanoma, cutaneous malignant, susceptibility to, 8" OR "melanoma, cutaneous malignant, susceptibility to, type 8"
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 (18255) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:23:05.276Z