ORPHA:505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Also known as: Mucopolysaccharidosis-like plus disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
368
80.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,215
Distinct authors in sample
Gene link
VPS33A
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, heart defects, dysostosis multiplex, , renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global . Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal deficiency. The disease is usually fatal in the first years of life.
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:0015012
- OMIM:617303
- UMLS:C4310627
Additional Mondo synonyms (4)
MPSPS · mucopolysaccharidosis-like plus disease · mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders · mucopolysaccharidosis-plus syndrome
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 — VPS33A
- LiteraturePresent
368 matched papers (219 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 (VPS33A).
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?
368
368 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.
368 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).
219 in the last 10 years · medium confidence · 80.1th percentile (publications denominator)
Phrase hits: 368 · MeSH hits: 0
Who's working on it?
1,215
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.
- 01Węgrzyn G11 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 02Pierzynowska K10 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 03Gaffke L9 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 04Cyske Z8 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 05Otomo T5 papers · 2025
Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Okayama 701-0192, Japan.
Papers in Europe PMC - 06Rintz E5 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 07Aguiar-Oliveira MH4 papers · 2025
Divisão de Endocrinologia, Programa de Pós-graduação em Ciências da Saúde, Universidade Federal de Sergipe, Aracaju, SE, Brasil, herminio@infonet.com.br.
Papers in Europe PMC - 08Audonnet JC4 papers · 2022
Boehringer Ingelheim Animal Health, 69800 Saint-Priest, France.
Papers in Europe PMC - 09Beer M4 papers · 2024
Institute of Diagnostic Virology, Friedrich-Loeffler-Institut, Federal Research Institute for Animal Health, 17493 Greifswald, Germany.
Papers in Europe PMC - 10
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.
"Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" OR "Mucopolysaccharidosis-like plus disease" OR "MPSPS" OR "mucopolysaccharidosis-plus syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" OR "Mucopolysaccharidosis-like plus disease" OR "MPSPS" OR "mucopolysaccharidosis-plus syndrome" OR "VPS33A" OR "mucopolysaccharidosis or mucopolysaccharidosis-like disorder"
Recall-expansion terms: VPS33A, mucopolysaccharidosis or mucopolysaccharidosis-like disorder
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (368) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T17:48:41.457Z