Canine Mendelian disease record

Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier)

Q: What is the human equivalent of Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier)?

OMIA links Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier) to its human counterpart in OMIM (OMIM 213300), the bridge to the deeper human-medicine literature for the same underlying biology.

Q: How well studied is Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier) in dogs?

OMIA curates 1 peer-reviewed reference for Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier). The full, linked citation list is on this page.

Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier). Autosomal recessive. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured variant frequencies drawn from 242,661 dogs (Donner 2023). Whether a dog carrying this variant is at risk depends on the disease’s inheritance pattern; outcome also depends on penetrance, modifiers, and environment. The frequencies below describe variant prevalence, not confirmed disease incidence.

OMIA identifier: OMIA:002173-9615
Inheritance: Autosomal recessive
Linked gene: INPP5E
Human counterpart: In humans, this gene is INPP5E. OMIM 613037 In people, INPP5E appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 1.18). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms. In people, variants in the INPP5E gene have conflicting classifications in ClinVar, and none is expert-reviewed. The evidence is unsettled, not that variants here are benign.
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human Joubert syndrome 1

Dogs with this condition carry a change in INPP5E. In people, changes in the same gene cause Joubert syndrome 1. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

In humans it is also called: CORS1, CPD4, JBTS1, cerebellooculorenal syndrome 1, INPP5E Joubert syndrome.

MONDO:0008944 OMIM 213300

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

This disorder is classified as a Hepatorenal fibrocystic disorder (HRFCD)

Clinical features

Dillard et al. (2018) reported "a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis"

Molecular genetics

Dillard et al. (2018) identified "a case-specific homozygous splice donor site variant in a cilia related gene, INPP5E: c.1572+5G>A. . . . We observed that the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon."

Pathology

Dillard et al. (2018): "The histopathological findings were typical for cystic renal dysplasia in which the cysts were located in the straight portion of the proximal tubule, and thin descending and ascending limbs of Henle’s loop."

Prevalence

Dillard et al. (2018) "genotyped the [INPP5E:c.1572+5G>A] variant in a cohort of 480 Finnish Norwich Terriers. No other homozygous dogs were found in this cohort while 29 of the analyzed dogs were heterozygous and the association of the variant to the disease was significant (p = 8,377 x 10^−37). The carrier frequency was 6% (29/483) and all carrier dogs were close relatives to the affected puppies . . . . In addition, the variant was investigated in 200 dogs from 69 breeds and 3 wolves using publicly available whole genome sequencing data . . . . The variant was not observed in any of the samples."

Inheritance

Dillard et al. (2018): "The pedigree of the affected puppies was suggestive of an autosomal recessive inheritance"

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 213300 Gene · OMIM 613037

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002173-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. · PLoS One · 2018 · PMID 30235266

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Your breed

See what Cystic Renal Dysplasia and Hepatic Fibrosis (Discovered in the Norwich Terrier) looks like in your dog's breed.

Variant frequency by breed

Observed only in small-sample breeds

Maximum variant frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The variant frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002173-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Gene page: INPP5E, cited identity, disease associations, and the human-gene bridge.
Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:002173-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated July 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002173-9615 · Donner et al. 2023 · gnomAD v4.1 (Karczewski 2020) · ClinVar (Landrum 2018)