ORPHA:363424
Multiple mitochondrial dysfunctions syndrome type 3
Also known as: IBA57 deficiency · MMDS3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
49
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
272
Distinct authors in sample
Gene link
IBA57
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable , typically characterized by early-onset acute or subacute or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include , vision loss, respiratory failure, , and . Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.
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:0014132
- OMIM:615330
- UMLS:C3809165
Additional Mondo synonyms (4)
IBA57 fatal multiple mitochondrial dysfunctions syndrome · fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57 · multiple mitochondrial dysfunctions syndrome 3 · multiple mitochondrial dysfunctions syndrome type 3
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 — IBA57
- LiteraturePresent
49 matched papers (40 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 (IBA57).
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?
49
49 papers have ever been published on this condition (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.
49 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 49 · MeSH hits: 0
Who's working on it?
272
Distinct author names in 49 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.
- 01Lill R5 papers · 2023
Institut für Zytobiologie und Zytopathologie, Philipps-Universität, Marburg, Germany.
Papers in Europe PMC - 02Banci L4 papers · 2024
Magnetic Resonance Center CERM, University of Florence, Florence, Italy.
Papers in Europe PMC - 03Maio N4 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 - 04Rouault TA4 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 - 05Cai K3 papers · 2020
Mitochondrial Proteome Project, Center for Eukaryotic Structural Genomics, University of Wisconsin-Madison, Madison, WI 53706, USA.
Papers in Europe PMC - 06Camponeschi F3 papers · 2024
Magnetic Resonance Center CERM, University of Florence, 50019 Sesto Fiorentino, Italy.
Papers in Europe PMC - 07Chen C3 papers · 2025
School of Clinical Medicine, Shandong Second Medical University, Weifang, Shandong, China.
Papers in Europe PMC - 08Ciofi-Baffoni S3 papers · 2022
Magnetic Resonance Center CERM, University of Florence, Florence, Italy.
Papers in Europe PMC - 09Li J3 papers · 2025
Beijing Engineering Research Center for Experimental Animal Models of Human Diseases, Institute of Laboratory Animal Science, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Papers in Europe PMC - 10Liu Z3 papers · 2026
Physical Intelligence Department, Max Planck Institute for Intelligent Systems, Stuttgart, Germany.
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 3" OR "IBA57 deficiency" OR "MMDS3" OR "IBA57 fatal multiple mitochondrial dysfunctions syndrome" OR "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" OR "multiple mitochondrial dysfunctions syndrome 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple mitochondrial dysfunctions syndrome type 3" OR "IBA57 deficiency" OR "MMDS3" OR "IBA57 fatal multiple mitochondrial dysfunctions syndrome" OR "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" OR "multiple mitochondrial dysfunctions syndrome 3" OR "IBA57" OR "fatal multiple mitochondrial dysfunctions syndrome"
Recall-expansion terms: IBA57, 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 2026-07-27T14:34:37.011Z