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ORPHA:137908

Hypotonia with lactic acidemia and hyperammonemia

medium confidenceDisorder

Also known as: COXPD5 · Combined oxidative phosphorylation defect type 5

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

455

77.5th percentile

Trials

0

Interventional, condition-specific

Researchers

116

Distinct authors in sample

Gene link

MRPS22

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

This syndrome is characterized by severe , lactic acidemia and hyperammonaemia.

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)

MRPS22 combined oxidative phosphorylation deficiency · combined oxidative phosphorylation defect type 5 · combined oxidative phosphorylation deficiency caused by mutation in MRPS22 · combined oxidative phosphorylation deficiency type 5

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 — MRPS22

  2. LiteraturePresent

    455 matched papers (328 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Fetal skin edema; Axial hypotonia; Microcephaly) 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 (MRPS22).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0012718

  • Fetal skin edema
  • Axial hypotonia
  • Microcephaly
  • Spastic tetraplegia
  • Ascites

Showing 5 of 28 — 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?

455

455 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.

455 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).

328 in the last 10 years · medium confidence · 77.5th percentile (publications denominator)

Phrase hits: 11 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

116

Distinct author names in 11 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
    Kingsmore S2 papers · 2012
    Papers in Europe PMC
  2. 02
    Abali S1 paper · 2019

    Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.

    Papers in Europe PMC
  3. 03
    Abali ZY1 paper · 2019

    Department of Pediatric Endocrinology, İstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

    Papers in Europe PMC
  4. 04
    Acuña-Alonzo V1 paper · 2015

    1] Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK [2] National Institute of Anthropology and History, Mexico City 4510, Mexico.

    Papers in Europe PMC
  5. 05
    Adhikari K1 paper · 2015

    Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK.

    Papers in Europe PMC
  6. 06
    Adkins RM1 paper · 2011

    Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA. ronald.m.adkins@gmail.com

    Papers in Europe PMC
  7. 07
    Ahmad B1 paper · 2025

    Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.

    Papers in Europe PMC
  8. 08
    Al Bulayhi S1 paper · 2022

    From the Division of Pediatric Neurology (Kentab, Al Bulayhi, Hamad, Al Wadei, Bashiri), Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, and from the Department of Pediatrics (Kentab, Bashiri), College of Medicine, King Saud University, and from the Department of Pediatric Neurology (Al Wadei), National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Al Wadei A1 paper · 2022

    From the Division of Pediatric Neurology (Kentab, Al Bulayhi, Hamad, Al Wadei, Bashiri), Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, and from the Department of Pediatrics (Kentab, Bashiri), College of Medicine, King Saud University, and from the Department of Pediatric Neurology (Al Wadei), National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Al-Jasmi F1 paper · 2023

    Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

    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 Hypotonia with lactic acidemia and hyperammonemia — 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.

("Hypotonia with lactic acidemia and hyperammonemia" OR "COXPD5" OR "Combined oxidative phosphorylation defect type 5" OR "MRPS22 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" OR "combined oxidative phosphorylation deficiency type 5") OR (MESH:"Combined Oxidative Phosphorylation Deficiency 5") OR ("MRPS22" OR "MRPS22 syndrome" OR "MRPS22-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Combined Oxidative Phosphorylation Deficiency 5

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hypotonia with lactic acidemia and hyperammonemia" OR "COXPD5" OR "Combined oxidative phosphorylation defect type 5" OR "MRPS22 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" OR "combined oxidative phosphorylation deficiency type 5" OR "Combined Oxidative Phosphorylation Deficiency 5"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 (455) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:31:56.856Z