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ORPHA:363424

Multiple mitochondrial dysfunctions syndrome type 3

medium confidenceDisorder

Also known as: IBA57 deficiency · MMDS3

Publications

428

78.1th percentile

Trials

0

Interventional, condition-specific

Researchers

272

Distinct authors in sample

Gene link

IBA57

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

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.

  1. Gene identifiedPresent

    Strong — IBA57

  2. LiteraturePresent

    428 matched papers (337 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Seizure; Encephalopathy; Elevated brain choline level by MRS) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

39

Associated phenotypes · MONDO:0014132

  • Seizure
  • Encephalopathy
  • Elevated brain choline level by MRS
  • Hypotonia
  • Severe muscular hypotonia

Showing 5 of 39 — 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?

428

428 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=3967) is 59.

428 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).

337 in the last 10 years · medium confidence · 78.1th percentile (publications denominator)

Phrase hits: 49 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Lill R5 papers · 2023

    Institut für Zytobiologie und Zytopathologie, Philipps-Universität, Marburg, Germany.

    Papers in Europe PMC
  2. 02
    Banci L4 papers · 2024

    Magnetic Resonance Center CERM, University of Florence, Florence, Italy.

    Papers in Europe PMC
  3. 03
    Maio 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
  4. 04
    Rouault 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
  5. 05
    Cai K3 papers · 2020

    Mitochondrial Proteome Project, Center for Eukaryotic Structural Genomics, University of Wisconsin-Madison, Madison, WI 53706, USA.

    Papers in Europe PMC
  6. 06
    Camponeschi F3 papers · 2024

    Magnetic Resonance Center CERM, University of Florence, 50019 Sesto Fiorentino, Italy.

    Papers in Europe PMC
  7. 07
    Chen C3 papers · 2025

    School of Clinical Medicine, Shandong Second Medical University, Weifang, Shandong, China.

    Papers in Europe PMC
  8. 08
    Ciofi-Baffoni S3 papers · 2022

    Magnetic Resonance Center CERM, University of Florence, Florence, Italy.

    Papers in Europe PMC
  9. 09
    Li 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
  10. 10
    Liu 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 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.

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 Multiple mitochondrial dysfunctions syndrome type 3 — 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.

("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 "IBA57 syndrome" OR "IBA57-related")

Run this search on Europe PMC

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"

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 (428) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T14:34:37.011Z