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ORPHA:583607

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

low confidenceSubtype of disorder

Also known as: 3-phosphoglycerate dehydrogenase deficiency, prenatal form

Publications

6,835

Trials

0

Interventional, condition-specific

Researchers

157

Distinct authors in sample

Gene link

PHGDH, PSPH

Definitive

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

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.”

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

    Definitive — PHGDH, PSPH

  2. LiteraturePresent

    6,835 matched papers (5,240 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Micromelia; Toe syndactyly; Cataract) 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 (PHGDH, PSPH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

57

Associated phenotypes · MONDO:0009736

  • Micromelia
  • Toe syndactyly
  • Cataract
  • Long fingers
  • Radial deviation of finger

Showing 5 of 57 — 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?

6,835

6,835 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,835 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).

5,240 in the last 10 years · low confidence

Phrase hits: 18 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Chen J2 papers · 2025

    General Hospital of Northern Theater Command of China Medical University, Shenyang, Liaoning Province, P.R. China.

    Papers in Europe PMC
  2. 02
    Furuya 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
  3. 03
    Guo X2 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Hamano M2 papers · 2016

    Department of Bioscience and Biotechnology Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan.

    Papers in Europe PMC
  5. 05
    Kato H2 papers · 2016

    Corporate Sponsored Research Program 'Food for Life', Organization for Interdisciplinary Research Projects The University of Tokyo Japan.

    Papers in Europe PMC
  6. 06
    Krajewski P2 papers · 2020

    Neonatal Unit, 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, 02-015 Warsaw, Poland.

    Papers in Europe PMC
  7. 07
    Kusada W2 papers · 2016

    Department of Bioscience and Biotechnology Graduate School of Bioresource and Bioenvironmental Sciences Kyushu University Fukuoka Japan.

    Papers in Europe PMC
  8. 08
    Li H2 papers · 2023

    BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.

    Papers in Europe PMC
  9. 09
    Li L2 papers · 2026

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  10. 10
    Liu 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 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.

low 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.

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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency — 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.

("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 "PHGDH syndrome" OR "PHGDH-related" OR "PSPH" OR "PSPH syndrome" OR "PSPH-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 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; 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 (6835) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:42:58.611Z