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Canine Mendelian disease record

Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND)

Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND). Autosomal dominant. Observed in 1 of 266 breeds tested in the Sniff Atlas, with measured at-risk genotype frequencies drawn from 242,664 dogs (Donner 2023). Because this is a dominant trait, a single copy places a dog at risk rather than making it a silent carrier; whether the phenotype appears still depends on penetrance, modifier genes, and environment.

Dominant trait. A single copy of this variant places a dog at risk; it does not make the dog a silent carrier. The breed frequencies below are therefore at-risk frequencies, and penetrance plus modifier genes determine whether the phenotype actually appears.

OMIA identifier
OMIA:001335-9615
Autosomal dominant
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human Birt-Hogg-Dube syndrome 1

This is the canine counterpart of Birt-Hogg-Dube syndrome 1 in people. 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 Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.

In humans it is also called: Hornstein-Knickenberg syndrome.

MONDO:0800445 OMIM 135150

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.

Clinical features

As summarised by Lingaas et al. (2003), "The disease is characterized by bilateral, multifocal tumors in the kidneys, uterine leiomyomas and nodules in the skin consisting of dense collagen fibers". Ciccarelli et al. (2019) reported a case of "Unilateral renal cystadenocarcinoma and nodular dermatofibrosis in a mixed-breed dog carrying . . . [the p.His255Arg] FLCN gene mutation", concluding that "This case supports the hypothesis that nodular dermatofibrosis is not a paraneoplastic syndrome associated with cystadenocarcinoma. It may be instead an independent dermatological feature of the same genetic disease, linked to the mutation of FLCN given that the cutaneous nodules in this dog increased in size and number after removal of the adenocarcinoma."

Molecular genetics

The causal mutation was discovered via a comparative positional cloning approach. Building on the mapping results described in the Mapping section above, Lingaas et al. (2003) narrowed the candidate region homologous to human HSA17p, which includes the BHD gene, mutations in which cause Birt–Hogg–Dubé syndrome, which is very similar to the canine disorder. Sequencing of the canine BHD gene showed that this disorder in German Shepherd dogs is due to an A>G base substitution in exon 7 of the BHD (folliculin) gene, leading to a H255R amino-acid substitution in a highly conserved region. Using genetic variant nomenclature as of 2015, the causative variant would be denoted as c.764A>G or p.His255Arg.

Inheritance

A pedigree analysis by Lium and Moe (1985) implicated autosomal dominant inheritance, which was confirmed by Moe et al. (1998).

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 135150 Gene · OMIM 607273

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001335-9615, 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. Showing 6 of 22.

  3. Genetics of inherited skin disorders in dogs. · Vet J · 2022 · PMID 34861369

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.

Predict a litter

Set each parent's status for Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) and see the odds for their puppies. Single dominant variant, exact Mendelian math.

Parent A
Parent B
NDAffected
NDAffected
NNUnaffected
NNUnaffected
Unaffected50%
Affected50%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
Your breed

See what Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) looks like in your dog's breed.
At-risk frequency by breed

Top 1 well-sampled breeds (n ≥ 50)

Maximum at-risk frequency per breed across variants in the Donner 2023 cohort, with . 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.

0%1%2%
German Shepherd<0.1% · n 15,648
n = 15,648 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed At-risk frequency n tested
German Shepherd <0.1% 15,648

265 additional breeds in the Donner 2023 cohort were tested but showed no at-risk genotypes.

Penetrance

From genotype to phenotype

For this dominant trait, a dog with even one copy is at risk, not a silent carrier. Penetrance is the fraction of at-risk dogs that actually develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated
2
Phenotype confirmed
0
Penetrance range
not yet quantifiable

Fewer than 20 at-risk dogs evaluated; too few to state a penetrance figure.

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

How to cite this record

Citations

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:001335-9615.

  • 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.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001335-9615 · Donner et al. 2023