ORPHA:419
Hyperprolinemia type 1
Also known as: Proline oxidase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
38
36.4th percentile
Trials
0
Interventional, condition-specific
Researchers
226
Distinct authors in sample
Gene link
PRODH
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global , , autistic features, and hyperactivity).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009400
- OMIM:239500
- UMLS:C0268529
Additional Mondo synonyms (4)
PRODH hyperprolinemia · hyperprolinemia caused by mutation in PRODH · hyperprolinemia type 1 · proline oxidase 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — PRODH
- LiteraturePresent
38 matched papers (19 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 trialPartial
None under the specific name; 1 for broader category hyperprolinemia
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 (PRODH).
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?
38
38 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.
38 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).
19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
226
Distinct author names in 38 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.
- 01
- 02Ersoy M2 papers · 2021
Department of Pediatrics, Division of Pediatric Metabolic Diseases, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, 34180, Istanbul, Turkey. zeynepcey@hotmail.com.
Papers in Europe PMC - 03Fryns JP2 papers · 2001Papers in Europe PMC
- 04Kim JW2 papers · 2018
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kimjw@skku.edu.
Papers in Europe PMC - 05Lupski JR2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Papers in Europe PMC - 06Yılmaz S2 papers · 2021
Department of Pediatric Child and Adolescent Psychiatry, Bakirkoy Dr. Sadi Konuk Education and Research Hospital, Istanbul, Turkey.
Papers in Europe PMC - 07Aguennouz M1 paper · 2008Papers in Europe PMC
- 08Aliu E1 paper · 2018
Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Papers in Europe PMC - 09Amin N1 paper · 2015
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Papers in Europe PMC - 10Ammendola A1 paper · 2024
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80138 Naples, Italy.
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). 1 trial are registered for hyperprolinemia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched hyperprolinemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hyperprolinemia
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Hyperprolinemia type 1" OR "Proline oxidase deficiency" OR "PRODH hyperprolinemia" OR "hyperprolinemia caused by mutation in PRODH"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperprolinemia type 1" OR "Proline oxidase deficiency" OR "PRODH hyperprolinemia" OR "hyperprolinemia caused by mutation in PRODH" OR "PRODH"
Recall-expansion terms: PRODH
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hyperprolinemia"
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 2026-07-26T13:47:38.111Z