ORPHA:583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Also known as: 3-phosphoglycerate dehydrogenase deficiency, prenatal form
Publications
18
32th percentile
Trials
0
Interventional, condition-specific
Researchers
157
Distinct authors in sample
Gene link
PHGDH, PSPH
Definitive
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009736
- OMIM:256520
- UMLS:C4551478
Additional Mondo synonyms (5)
3-Phosphoglycerate dehydrogenase deficiency, neonatal form · Neu-Laxova syndrome 1 · Neu-Laxova syndrome caused by mutation in PHGDH · Neu-Laxova syndrome type 1 · PHGDH Neu-Laxova syndrome
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
Definitive — PHGDH, PSPH
- LiteraturePresent
18 matched papers (14 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 (PHGDH, PSPH).
GenCC classification: Definitive.
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).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
157
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.
- 01Chen J2 papers · 2025
General Hospital of Northern Theater Command of China Medical University, Shenyang, Liaoning Province, P.R. China.
Papers in Europe PMC - 02Furuya S2 papers · 2016
Laboratory of Functional Genomics and Metabolism Department of Innovative Science and Technology for Bio-industry Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan; Department of Bioscience and Biotechnology Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan; Department of Genetic Resources Technology Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan.
Papers in Europe PMC - 03Guo X2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 04Hamano M2 papers · 2016
Department of Bioscience and Biotechnology Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan.
Papers in Europe PMC - 05Kato H2 papers · 2016
Corporate Sponsored Research Program 'Food for Life', Organization for Interdisciplinary Research Projects The University of Tokyo Japan.
Papers in Europe PMC - 06Krajewski P2 papers · 2020
Neonatal Unit, 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, 02-015 Warsaw, Poland.
Papers in Europe PMC - 07Kusada W2 papers · 2016
Department of Bioscience and Biotechnology Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan.
Papers in Europe PMC - 08Li H2 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 09Li L2 papers · 2026
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 10Liu Y2 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Broader category 3-phosphoglycerate dehydrogenase deficiency also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: 3-phosphoglycerate dehydrogenase deficiency
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency" OR "3-phosphoglycerate dehydrogenase deficiency, prenatal form" OR "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" OR "Neu-Laxova syndrome 1" OR "Neu-Laxova syndrome caused by mutation in PHGDH" OR "Neu-Laxova syndrome type 1" OR "PHGDH Neu-Laxova syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency" OR "3-phosphoglycerate dehydrogenase deficiency, prenatal form" OR "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" OR "Neu-Laxova syndrome 1" OR "Neu-Laxova syndrome caused by mutation in PHGDH" OR "Neu-Laxova syndrome type 1" OR "PHGDH Neu-Laxova syndrome" OR "PHGDH" OR "PSPH"
Recall-expansion terms: PHGDH, PSPH
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"3-phosphoglycerate dehydrogenase deficiency"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T18:42:58.611Z