ORPHA:478049
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
18
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
189
Distinct authors in sample
Gene link
MIPEP
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Lethal left ventricular non-compaction---cataract- syndrome is rare, genetic, neurometabolic disease characterized by global , severe , , cataracts, (including left or bi-ventricular hypertrophy, dilated ) and left ventricular non-compaction, typically resulting in or early-childhood death. Patients usually present lactic , , head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.
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:0014976
- OMIM:617228
- UMLS:C4310661
Additional Mondo synonyms (5)
COXPD31 · MIPEP combined oxidative phosphorylation deficiency · combined oxidative phosphorylation deficiency 31 · combined oxidative phosphorylation deficiency caused by mutation in MIPEP · combined oxidative phosphorylation deficiency type 31
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 — MIPEP
- LiteraturePresent
18 matched papers (18 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 (MIPEP).
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?
18
18 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.
18 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).
18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
189
Distinct author names in 18 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.
- 01Baker 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 - 02Greenway SC2 papers · 2022
Departments of Pediatrics, Cardiac Sciences and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute and Libin Cardiovascular Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 03Khan A2 papers · 2022
Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T3B 6A8, Canada.
Papers in Europe PMC - 04Shutt TE2 papers · 2022
Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 05Stojanovski 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 - 06Zhao T2 papers · 2022
Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 07Abdelhak S1 paper · 2021
Biomedical Genomics and Oncogenetics Laboratory (LR16IPT05), Institut Pasteur de Tunis, Tunis, Tunisia.
Papers in Europe PMC - 08Abuzenadah A1 paper · 2018
Center of Excellence in Genomic Medicine Research, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80216, Jeddah 21589, Saudi Arabia. aabuzenadah@kau.edu.sa.
Papers in Europe PMC - 09Adès LC1 paper · 2022
Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.
Papers in Europe PMC - 10Afram E1 paper · 2026
Genetics of rare ophthalmological, auditory, and mitochondrial disorders, INSERM UMR1163, Université Paris Cité, Institut Imagine, Paris, France.
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.
"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" OR "COXPD31" OR "MIPEP combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency 31" OR "combined oxidative phosphorylation deficiency caused by mutation in MIPEP" OR "combined oxidative phosphorylation deficiency type 31"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" OR "COXPD31" OR "MIPEP combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency 31" OR "combined oxidative phosphorylation deficiency caused by mutation in MIPEP" OR "combined oxidative phosphorylation deficiency type 31" OR "MIPEP"
Recall-expansion terms: MIPEP
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 2026-07-27T17:11:26.394Z