ORPHA:79351
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Also known as: PHGDH deficiency, infantile/juvenile form
Publications
5,846
Trials
0
Interventional, condition-specific
Researchers
1,343
Distinct authors in sample
Gene link
PHGDH
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an form of serine deficiency syndrome characterized clinically in the few reported cases by microcephaly, psychomotor retardation and intractable in the form and by absence , moderate and behavioral disorders in the juvenile form
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:0011152
- MeSH:C566618
- OMIM:601815
- UMLS:C1866174
Additional Mondo synonyms (2)
PHGDH deficiency · PHOSPHOGLYCERATE dehydrogenase deficiency
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.
- Gene identifiedPresent
Definitive — PHGDH
- LiteraturePresent
5,846 matched papers (4,531 in last 10 years) Source
- Phenotype characterisedPresent
61 HPO annotations (e.g. Seizure; Reduced 3-phosphoglycerate dehydrogenase activity; Thrombocytopenia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
61
Associated phenotypes · MONDO:0011152
- Seizure
- Reduced 3-phosphoglycerate dehydrogenase activity
- Thrombocytopenia
- Hypsarrhythmia
- Megaloblastic anemia
Showing 5 of 61 — 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?
5,846
5,846 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.
5,846 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).
4,531 in the last 10 years · low confidence
Phrase hits: 241 · MeSH hits: 2
Who's working on it?
1,343
Distinct author names in 200 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.
- 01de Koning TJ13 papers · 2017
Paediatrician for Inborn Errors of Metabolism, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands. t.j.de.koning@umcg.nl.
Papers in Europe PMC - 02Jaeken J11 papers · 2007
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Papers in Europe PMC - 03Van Schaftingen E8 papers · 2016
de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Papers in Europe PMC - 04Berger R6 papers · 2012Papers in Europe PMC
- 05Dorland L6 papers · 2011Papers in Europe PMC
- 06Poll-The BT6 papers · 2002Papers in Europe PMC
- 07Cui Y5 papers · 2026
Qingdao Medical College, Qingdao University, Qingdao, China.
Papers in Europe PMC - 08Klomp LW5 papers · 2012
Department of Metabolic Diseases, University Medical Center Utrecht, 3584 AE Utrecht, The Netherlands. L.Klomp@wkz.azu.nl
Papers in Europe PMC - 09Van Maldergem L5 papers · 2002Papers in Europe PMC
- 10Wang J5 papers · 2026
Department of Medicinal Chemistry and Natural Medicine Chemistry (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, 150081, China. tcm_syphu@163.com.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
2 observational studies match 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.
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 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form — check Associations / patient organisations on that page.
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.
("3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" OR "PHGDH deficiency, infantile/juvenile form" OR "PHGDH deficiency" OR "PHOSPHOGLYCERATE dehydrogenase deficiency") OR (MESH:"Phosphoglycerate Dehydrogenase Deficiency") OR ("PHGDH" OR "PHGDH syndrome" OR "PHGDH-related")MeSH descriptor terms unioned into the query: Phosphoglycerate Dehydrogenase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" OR "PHGDH deficiency, infantile/juvenile form" OR "PHGDH deficiency" OR "PHOSPHOGLYCERATE dehydrogenase deficiency"
Study-type breakdown: 0 interventional · 2 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, mesh; with hits: phrase, mesh
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 (5846) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:20:19.338Z