ORPHA:3242
Renpenning syndrome
Also known as: X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
162
64.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,235
Distinct authors in sample
Gene link
PQBP1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Renpenning syndrome is an X-linked syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
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:0010653
- MeSH:C537761
- OMIM:309500
- UMLS:C0796135
- NCIT:C165533
Additional Mondo synonyms (8)
Golabi-Ito-Hall syndrome · Renpenning syndrome type 1 · Sutherland-Haan X-linked intellectual disability syndrome · Sutherland-Haan X-linked mental retardation syndrome · X-linked intellectual disability Renpenning type · X-linked intellectual disability with spastic diplegia · renpenning syndrome, X-linked recessive · syndromic X-linked intellectual disability 8
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 — PQBP1
- LiteraturePresent
162 matched papers (90 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 (PQBP1).
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?
162
162 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.
162 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).
90 in the last 10 years · medium confidence · 64.7th percentile (publications denominator)
Phrase hits: 162 · MeSH hits: 0
Who's working on it?
1,235
Distinct author names in 162 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.
- 01Han J13 papers · 2026
Beijing Key Laboratory of Maternal-Fetal Medicine and Fetal Heart Disease, Capital Medical University Affiliated Anzhen Hospital, Beijing, China.
Papers in Europe PMC - 02Sadikovic B10 papers · 2025
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Papers in Europe PMC - 03Schwartz CE10 papers · 2023
JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.
Papers in Europe PMC - 04Zhang ZC10 papers · 2026
Institute of Life Sciences, The Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, 210096, China.
Papers in Europe PMC - 05Liu X8 papers · 2026
Beijing Key Laboratory of Maternal-Fetal Medicine and Fetal Heart Disease, Capital Medical University Affiliated Anzhen Hospital, Beijing, China.
Papers in Europe PMC - 06McConkey H8 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 07
- 08Kerkhof J7 papers · 2024
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 09Okazawa H7 papers · 2022
Department of Neuropathology, Medical Research Institute and Center for Brain Integration Research, Tokyo Medical and Dental University.
Papers in Europe PMC - 10Haghshenas S6 papers · 2024
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
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.
medium 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.
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.
"Renpenning syndrome" OR "X-linked intellectual disability due to PQBP1 mutations" OR "X-linked intellectual disability, Renpenning type" OR "Golabi-Ito-Hall syndrome" OR "Renpenning syndrome type 1" OR "Sutherland-Haan X-linked intellectual disability syndrome" OR "Sutherland-Haan X-linked mental retardation syndrome" OR "X-linked intellectual disability Renpenning type" OR "X-linked intellectual disability with spastic diplegia" OR "renpenning syndrome, X-linked recessive" OR "syndromic X-linked intellectual disability 8"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Renpenning syndrome" OR "X-linked intellectual disability due to PQBP1 mutations" OR "X-linked intellectual disability, Renpenning type" OR "Golabi-Ito-Hall syndrome" OR "Renpenning syndrome type 1" OR "Sutherland-Haan X-linked intellectual disability syndrome" OR "Sutherland-Haan X-linked mental retardation syndrome" OR "X-linked intellectual disability Renpenning type" OR "X-linked intellectual disability with spastic diplegia" OR "renpenning syndrome, X-linked recessive" OR "syndromic X-linked intellectual disability 8" OR "PQBP1"
Recall-expansion terms: PQBP1
Study-type breakdown: 0 interventional · 0 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:37:05.961Z