ORPHA:289560
Mitochondrial membrane protein-associated neurodegeneration
Also known as: MPAN · NBIA due to C19orf12 mutation · NBIA4 · Neurodegeneration with brain iron accumulation due to C19orf12 mutation · Neurodegeneration with brain iron accumulation type 4
Publications
792
84.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,141
Distinct authors in sample
Gene link
C19orf12
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal , optic atrophy, cognitive decline, and neuropsychiatric abnormalities.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013674
- OMIM:614298
- UMLS:C3280371
- NCIT:C175707
Additional Mondo synonyms (6)
C19orf12 neurodegeneration with brain iron accumulation · mitochondrial Protein-associated neurodegeneration · neurodegeneration with brain iron accumulation 4 · neurodegeneration with brain iron accumulation caused by mutation in C19orf12 · neurodegeneration with brain iron accumulation due to C19orf12 mutation · neurodegeneration with brain iron accumulation type 4
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
Definitive — C19orf12
- LiteraturePresent
792 matched papers (585 in last 10 years) Source
- Phenotype characterisedPresent
61 HPO annotations (e.g. Loss of ambulation; Mental deterioration; Hyperreflexia) 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 (C19orf12).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
61
Associated phenotypes · MONDO:0013674
- Loss of ambulation
- Mental deterioration
- Hyperreflexia
- Hyporeflexia
- Pes cavus
Showing 5 of 61 — 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?
792
792 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.
792 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).
585 in the last 10 years · medium confidence · 84.6th percentile (publications denominator)
Phrase hits: 472 · MeSH hits: 0
Who's working on it?
1,141
Distinct author names in 200 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.
- 01Klopstock T9 papers · 2026
Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany.
Papers in Europe PMC - 02Kmiec T9 papers · 2024
Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 03Kurkowska-Jastrzębska I9 papers · 2026
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Papers in Europe PMC - 04Gregory A7 papers · 2021
Departments of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, United States.
Papers in Europe PMC - 05Skowronska M7 papers · 2020
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: marta.ms@simplusnet.pl.
Papers in Europe PMC - 06Czlonkowska A6 papers · 2020
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Papers in Europe PMC - 07Hayflick SJ6 papers · 2023
Departments of Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, OR, United States. Electronic address: hayflick@ohsu.edu.
Papers in Europe PMC - 08Hogarth P6 papers · 2021
Departments of Molecular and Medical Genetics and Neurology, Oregon Health and Science University, Portland, OR, United States.
Papers in Europe PMC - 09Rohani M6 papers · 2024
Department of Neurology Rasool Akram Hospital, School of Medicine, Iran University of Medical Sciences Tehran Iran.
Papers in Europe PMC - 10Skowrońska M6 papers · 2026
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: marta.ms@simplusnet.pl.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
1 observational study matches 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
- NCT05522374·RECRUITING·TIRCON International NBIA Registry
Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA) · Pantothenate Kinase-associated Neurodegeneration (PKAN) · Beta-Propeller Protein-Associated Neurodegeneration (BPAN) · Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)·Matched via name phrase
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 Mitochondrial membrane protein-associated neurodegeneration — 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.
("Mitochondrial membrane protein-associated neurodegeneration" OR "NBIA due to C19orf12 mutation" OR "NBIA4" OR "Neurodegeneration with brain iron accumulation due to C19orf12 mutation" OR "Neurodegeneration with brain iron accumulation type 4" OR "C19orf12 neurodegeneration with brain iron accumulation" OR "mitochondrial Protein-associated neurodegeneration" OR "neurodegeneration with brain iron accumulation 4" OR "neurodegeneration with brain iron accumulation caused by mutation in C19orf12") OR ("C19orf12" OR "C19orf12 syndrome" OR "C19orf12-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial membrane protein-associated neurodegeneration" OR "NBIA due to C19orf12 mutation" OR "NBIA4" OR "Neurodegeneration with brain iron accumulation due to C19orf12 mutation" OR "Neurodegeneration with brain iron accumulation type 4" OR "C19orf12 neurodegeneration with brain iron accumulation" OR "mitochondrial Protein-associated neurodegeneration" OR "neurodegeneration with brain iron accumulation 4" OR "neurodegeneration with brain iron accumulation caused by mutation in C19orf12"
Study-type breakdown: 0 interventional · 1 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
Synonyms dropped by stoplist: MPAN
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:15:39.654Z