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Features include always present findings: Enlarged liver (hepatomegaly), Elevated antibody levels (increased circulating immunoglobulin concentration), Failure to thrive, and Recurrent infections and others; and common findings: Low white blood cell count (decreased total leukocyte count). 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 6 | Low white blood cell count (decreased total leukocyte count), Recurrent infections, Low red blood cell count (anemia) |
VPS45 function has not been fully characterized.
Congenital neutropenia-myelofibrosis-nephromegaly syndrome is associated with mutations in the VPS45 gene on chromosome 1.
Genetic testing for VPS45 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital neutropenia-myelofibrosis-nephromegaly syndrome has been reported in the published literature.
Phenotype severity distribution: 11 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for congenital neutropenia-myelofibrosis-nephromegaly syndrome.
283 publications have been identified in PubMed for congenital neutropenia-myelofibrosis-nephromegaly syndrome. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (23%), and Basic Science / Preclinical (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 91 | 38% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Digestive system | 3 | Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly), Chronic diarrhea |
Brain and nerves | 1 | Global developmental delay |
Lab test results | 1 | Elevated antibody levels (increased circulating immunoglobulin concentration) |
Growth and development | 1 | Failure to thrive |
Kidneys and urinary system | 1 | Enlarged kidney |
Patient case studies |
55 |
23% |
Laboratory research | 39 | 16% |
Disease patterns and progression | 30 | 13% |
Clinical study results | 10 | 4% |
Testing and diagnosis research | 7 | 3% |
New treatment approaches | 4 | 2% |
Other research | 1 | 0% |
Tana C (2026). [PMID: 41980458](https://pubmed.ncbi.nlm.nih.gov/41980458/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Markevičiūtė A (2026). [PMID: 42195081](https://pubmed.ncbi.nlm.nih.gov/42195081/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]
Vialle R (2026). [PMID: 40976314](https://pubmed.ncbi.nlm.nih.gov/40976314/). *Orthop Traumatol Surg Res*. [Review / Meta-Analysis]
Bruessel P (2026). [PMID: 41924132](https://pubmed.ncbi.nlm.nih.gov/41924132/). *Vasc Health Risk Manag*. [Review / Meta-Analysis]
Akçay AA (2026). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clin Genet*. [Basic Science / Preclinical]
Parastatidou S (2026). [PMID: 41832129](https://pubmed.ncbi.nlm.nih.gov/41832129/). *Blood Rev*. [Review / Meta-Analysis]
Arreba-Tutusaus P (2026). [PMID: 41839250](https://pubmed.ncbi.nlm.nih.gov/41839250/). *Exp Hematol*. [Review / Meta-Analysis]
Serpieri V (2026). [PMID: 41720098](https://pubmed.ncbi.nlm.nih.gov/41720098/). *Am J Hum Genet*. [Basic Science / Preclinical]
Graafen L (2026). [PMID: 41831046](https://pubmed.ncbi.nlm.nih.gov/41831046/). *J Clin Immunol*. [Diagnostic / Biomarker]
AI-curated news mentioning congenital neutropenia-myelofibrosis-nephromegaly syndrome
Updated May 4, 2026
A recent study highlights the genetic basis of X-linked SEPTIN6-related congenital neutropenia and B cell deficiency, providing insights into the underlying mechanisms of these rare conditions. This research could inform future therapeutic strategies for affected patients.