ORPHA:79350
3-phosphoserine phosphatase deficiency, infantile/juvenile form
Also known as: PSPH deficiency, infantile/juvenile form
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
113
53th percentile
Trials
0
Interventional, condition-specific
Researchers
685
Distinct authors in sample
Gene link
PSPH
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
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:0013531
- OMIM:614023
- UMLS:C1291463
Additional Mondo synonyms (3)
PSPH deficiency · PSPHD · phosphoserine phosphatase 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.”
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 — PSPH
- LiteraturePresent
113 matched papers (49 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 (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?
113
113 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=5449) is 41.
113 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).
49 in the last 10 years · high confidence · 53th percentile (publications denominator)
Phrase hits: 113 · MeSH hits: 0
Who's working on it?
685
Distinct author names in 113 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.
- 01Ferreira CR5 papers · 2023
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.
Papers in Europe PMC - 02Jaeken J5 papers · 2007
Department of Paediatrics, University of Leuven, Belgium.
Papers in Europe PMC - 03Starzl TE4 papers · 1989
Department of Surgery, School of Medicine, University of Pittsburgh, Pennsylvania.
Papers in Europe PMC - 04Van Schaftingen E4 papers · 2007Papers in Europe PMC
- 05Byers HM3 papers · 2018
Division of Medical Genetics, Stanford University, Palo Alto, CA, USA.
Papers in Europe PMC - 06He Y3 papers · 2024
Digestive Disease Center, The Seventh Affiliated Hospital, Sun Yat-sen University, Zhenyuan Road 628, Guangming District, Shenzhen 518000, Guangdong, China.
Papers in Europe PMC - 07van Karnebeek CDM3 papers · 2022
Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. Electronic address: c.d.vankarnebeek@amstedarmumc.nl.
Papers in Europe PMC - 08Wang L3 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 09Alliet P2 papers · 1997Papers in Europe PMC
- 10Bennett RL2 papers · 2016
Division of Medical Genetics, University of Washington Medical Center, Seattle, WA, USA.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"3-phosphoserine phosphatase deficiency, infantile/juvenile form" OR "PSPH deficiency, infantile/juvenile form" OR "PSPH deficiency" OR "PSPHD" OR "phosphoserine phosphatase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"3-phosphoserine phosphatase deficiency, infantile/juvenile form" OR "PSPH deficiency, infantile/juvenile form" OR "PSPH deficiency" OR "PSPHD" OR "phosphoserine phosphatase deficiency" OR "PSPH"
Recall-expansion terms: PSPH
Study-type breakdown: 0 interventional · 1 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 2026-07-27T02:20:07.515Z