ORPHA:369852
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Also known as: VPS45 deficiency · Vacuolar sorting protein 45 deficiency · Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
42
48.5th percentile
Trials
0
Interventional, condition-specific
Researchers
362
Distinct authors in sample
Gene link
VPS45
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary immunodeficiency disorder characterized by severe neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. , cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).
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:0014118
- OMIM:615285
- UMLS:C3809031
Additional Mondo synonyms (2)
congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · vps45 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
Strong — VPS45
- LiteraturePresent
42 matched papers (38 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 (VPS45).
GenCC classification: Strong.
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?
42
42 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.
42 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).
38 in the last 10 years · high confidence · 48.5th percentile (publications denominator)
Phrase hits: 42 · MeSH hits: 0
Who's working on it?
362
Distinct author names in 42 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.
- 01Klein C8 papers · 2025
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Papers in Europe PMC - 02Picard C5 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 03Cunningham-Rundles C4 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 04Di Donato N4 papers · 2026
Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany. Nataliya.didonato@uniklinikum-dresden.de.
Papers in Europe PMC - 05Manstein DJ4 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany. Manstein.Dietmar@mh-hannover.de.
Papers in Europe PMC - 06Stepensky P4 papers · 2022
Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Papers in Europe PMC - 07Sullivan KE4 papers · 2025
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 08Taft MH4 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.
Papers in Europe PMC - 09Al-Herz W3 papers · 2020
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Papers in Europe PMC - 10Bousfiha A3 papers · 2020
Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
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.
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.
"Congenital neutropenia-myelofibrosis-nephromegaly syndrome" OR "VPS45 deficiency" OR "Vacuolar sorting protein 45 deficiency" OR "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital neutropenia-myelofibrosis-nephromegaly syndrome" OR "VPS45 deficiency" OR "Vacuolar sorting protein 45 deficiency" OR "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" OR "VPS45" OR "autosomal recessive severe congenital neutropenia"
Recall-expansion terms: VPS45, autosomal recessive severe congenital neutropenia
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
Ingested 2026-07-27T14:48:50.194Z