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Also known as:VMCKDcongenital nephrosis-cerebral ventriculomegaly syndromeventriculomegaly with cystic kidney disease
Overview
GeneticsAutosomal recessive · CRB2 (chr 9)
OnsetANTENATAL
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include always present findings: Seizure; and common findings: Hyperechogenic kidneys, Enlarged brain ventricles (ventriculomegaly), and Renal corticomedullary cysts. 14 total HPO annotations.
Organ System
Phenotype Count
Example Features
Kidneys and urinary system
4
Reduced kidney function (renal insufficiency), Tubular luminal dilatation, Hyperechogenic kidneys
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
CRB2 encodes crumbs cell polarity complex component 2 (1,285 aa). Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Highest expression in Brain Cortex (7.8 TPM) and Brain Caudate basal ganglia (6.9 TPM).
Ventriculomegaly-cystic kidney disease is associated with mutations in the CRB2 gene on chromosome 9.
CRB2 is classified as a druggable target (Druggable Genome category) with score 0.0.
Diagnosis
Genetic testing for CRB2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for ventriculomegaly-cystic kidney disease has been reported in the published literature.
Prognosis
Phenotype severity distribution: 1 always present feature, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for ventriculomegaly-cystic kidney disease.
310 publications have been identified in PubMed for ventriculomegaly-cystic kidney disease. Kisho has analyzed 119 by research type. Research spans Review / Meta-Analysis (74%), Basic Science / Preclinical (11%), and Other (8%).
Research Type
Count
% of Total
Research summaries
88
74%
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:10 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
Research reveals that the fibrocystin C-terminal domain inhibits Src/STAT3 signaling, which is linked to cystogenesis in kidney epithelial cells. This discovery could provide insights into therapeutic strategies for kidney diseases.
Securing funding from such a high-caliber syndicate is a strong validator of our approach to treating kidney diseases such as ADPKD. This financing will allow us to progress the clinical development of our lead candidate, bringing us closer to transforming the treatment landscape for patients with rare ... Securing funding from such a high-caliber syndicate is a strong validator of our approach to treating kidney diseases such as ADPKD. This financing will allow us to progress the clinical development of our lead candidate, bringing us closer to transforming the treatment landscape for patients with rare kidney diseases.” Paul Callaghan, Investment Director, Scottish National Investment Bank: “Our investment in Mironid reflects our commitment to backing impactful Scottish businesses with high-growth potential. Mironid exemplifies Scotland’s growing reputation for biotech innovation, developing a new treatment approach that could improve options for people living with kidney disease. Scottish National Investment Bank joins existing investors Roche Venture Fund, Epidarex Capital, Sofinnova Partners and BioGeneration Ventures · Glasgow, Scotland, August 5, 2026 – Mironid, a biopharmaceutical company developing small molecule therapeutics for the treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD), a life-threatening hereditary kidney disease, today announces it has raised $46 million in a Series B funding round. Preclinical data shows significant efficacy and a favourable safety profile across all disease endpoints, including a reduction in cyst number and kidney volume. The ability of cAMP modulators to prevent new cyst formation and arrest the growth of existing cysts is indicative of the potential to offer an effective and durable treatment option with an improved side-effect profile for all ADPKD patients. The funding round was supported by new investor the Scottish National Investment Bank and existing investors the Roche Venture Fund, Epidarex Capital, Sofinnova Partners, BioGeneration Ventures and the University of Strathclyde.
