ORPHA:569290
Multiple mitochondrial dysfunctions syndrome type 6
Also known as: PMPCB deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
13
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
55
Distinct authors in sample
Gene link
PMPCB
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as and or refractory epileptic . Other observed features include , dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.
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:0054785
- OMIM:617954
- UMLS:C4693741
Additional Mondo synonyms (3)
MMDS6 · multiple mitochondrial dysfunctions syndrome 6 · multiple mitochondrial dysfunctions syndrome type 6
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
Strong — PMPCB
- LiteraturePresent
13 matched papers (13 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 (PMPCB).
GenCC classification: Strong.
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?
13
13 papers have ever been indexed 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.
13 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
55
Distinct author names in 13 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.
- 01Maio N3 papers · 2022
Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, Bethesda, MD 20892, USA.
Papers in Europe PMC - 02Rouault TA3 papers · 2022
Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, Bethesda, MD 20892, USA. Electronic address: rouault@mail.nih.gov.
Papers in Europe PMC - 03Baker MJ2 papers · 2025
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3052, Australia.
Papers in Europe PMC - 04Stojanovski D2 papers · 2025
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3052, Australia.
Papers in Europe PMC - 05Alfadhel M1 paper · 2019
Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Papers in Europe PMC - 06Audet S1 paper · 2023
University of Montreal Hospital Research Center (CRCHUM), Montreal, QC, Canada.
Papers in Europe PMC - 07Bamba C1 paper · 2023
Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 08Carroll CJ1 paper · 2024
Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
Papers in Europe PMC - 09Chaudhry C1 paper · 2023
Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 10Chen C1 paper · 2024
School of Clinical Medicine, Shandong Second Medical University, Weifang, Shandong, China.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Multiple mitochondrial dysfunctions syndrome type 6" OR "PMPCB deficiency" OR "MMDS6" OR "multiple mitochondrial dysfunctions syndrome 6"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple mitochondrial dysfunctions syndrome type 6" OR "PMPCB deficiency" OR "MMDS6" OR "multiple mitochondrial dysfunctions syndrome 6" OR "PMPCB" OR "fatal multiple mitochondrial dysfunctions syndrome"
Recall-expansion terms: PMPCB, fatal multiple mitochondrial dysfunctions syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T18:30:39.032Z