ORPHA:438216
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
120
68.7th percentile
Trials
0
Interventional, condition-specific
Researchers
959
Distinct authors in sample
Gene link
PURA
Definitive
Readiness
2/6
Stages with a signal
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.
Additional Mondo synonyms (6)
MRD31 · PURA syndrome · autosomal dominant intellectual disability 31 · intellectual disability, autosomal dominant type 31 · mental retardation, autosomal dominant type 31 · neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
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 — PURA
- LiteraturePresent
120 matched papers (114 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 (PURA).
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?
120
120 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.
120 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).
114 in the last 10 years · high confidence · 68.7th percentile (publications denominator)
Phrase hits: 120 · MeSH hits: 0
Who's working on it?
959
Distinct author names in 120 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.
- 01Niessing D10 papers · 2026
Institute of Structural Biology, Helmholtz Zentrum München - German Research Center for Environmental Health , Neuherberg, Germany.
Papers in Europe PMC - 02
- 03Bacher S5 papers · 2024
Institute of Structural Biology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Papers in Europe PMC - 04Iyadurai S5 papers · 2026
Johns Hopkins All Children's Hospital, Division of Neurology, 501 6th Ave S, St. Petersburg, FL 33701, United States. Electronic address: stanley.iyadurai@gmail.com.
Papers in Europe PMC - 05Janowski R5 papers · 2024
Institute of Structural Biology, Helmholtz Zentrum München - German Research Center for Environmental Health , Neuherberg, Germany.
Papers in Europe PMC - 06Leventer RJ5 papers · 2024
The Royal Children's Hospital Department of Neurology, University of Melbourne, Department of Pediatrics and the Murdoch Children's Hospital Institute, Melbourne, Victoria, Australia.
Papers in Europe PMC - 07Molitor L5 papers · 2024
Institute of Structural Biology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Papers in Europe PMC - 08Burczyk S4 papers · 2026
Institute of Pharmaceutical Biotechnology, Ulm University, Ulm, Germany.
Papers in Europe PMC - 09Hildebrand MS4 papers · 2024
Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, 3052, Australia.
Papers in Europe PMC - 10Hunt D4 papers · 2021
Faculty of Medicine, Wessex Clinical Genetics Service, Princess Anne Hospital, University of Southampton, Southampton, Hampshire, UK.
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 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 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 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: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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.
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.
"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" OR "MRD31" OR "PURA syndrome" OR "autosomal dominant intellectual disability 31" OR "intellectual disability, autosomal dominant type 31" OR "mental retardation, autosomal dominant type 31" OR "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" OR "MRD31" OR "PURA syndrome" OR "autosomal dominant intellectual disability 31" OR "intellectual disability, autosomal dominant type 31" OR "mental retardation, autosomal dominant type 31" OR "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" OR "PURA"
Recall-expansion terms: PURA
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"
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 2026-07-27T16:14:33.058Z