What is the human equivalent of Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI)?

OMIA links Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI) to its human counterpart in OMIM (OMIM 104500, OMIM 204650), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI)

Q: How well studied is Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI) in dogs?

OMIA curates 6 peer-reviewed references for Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI). The full, linked citation list is on this page.

Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI). Autosomal recessive. Observed in 12 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,664 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:001805-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human amelogenesis imperfecta type 1B

This is the canine counterpart of amelogenesis imperfecta type 1B 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 amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.

In humans it is also called: AI1B, AIH2, amelogenesis imperfecta, type IB, ENAM amelogenesis imperfecta, enam amelogenesis imperfecta.

MONDO:0007092 OMIM 104500 OMIM 204650

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. 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

Also known as Enamel hypoplasia.

Clinical features

For Italian Greyhounds, the clinical signs as reported by Gandolfi et al. (2013) are "A brownish mottling and roughening of teeth is apparent in areas where enamel is thin or absent . . . . Affected permanent teeth are often small and pointed compared with normal teeth . . . . Greater than normal gaps between teeth are often noticeable in young dogs and become more apparent with age due to premature enamel wear".

Molecular genetics

Three of the ten genes in the candidate region described in the Mapping section above are involved in enamel development. Mutations in one of these three positional candidate genes (ENAM) are causal in one form of human amelogenesis imperfecta. Gandolfi et al. (2013) therefore chose to sequence the canine ENAM gene in three affecteds and one normal Italian Greyhound. Sequencing revealed the likely causal mutation as "a 5-bp deletion . . . , c.1991_1995delTTTCC, in exon 10, resulting in a frameshift and premature termination codon at position 668 (p.Phe665Argfs*3) of the protein". In Samoyed dogs, Pedersen et al. (2017) reported "Two potential deleterious mutations in SCL24A[4] on CFA8 and in strong linkage disequilibrium were ultimately identified in ARAI affected dogs, an asynonymous change (C to T) in exon 12 changing amino acid proline to leucine and a 21 bp duplication in exon 17". The extent to which either of these variants is actually associated with the disorder in this breed is not clear from the paper: the missense variant was not investigated beyond its discovery, and for the deletion variant, Pedersen et al. (2017) reported that "The 14/182 (7.8%) dogs that were presumed to have enamel hypoplasia based on physical examination and DNA testing all were homozygous for the mutation. Twenty of 168 (12%) heathy dogs were found to be heterologous [sic] for the mutation and most were parents or known close relatives of affected dogs." Thus it is not evident whether all dogs diagnosed solely on a clinical basis were homozygous and whether all known parents of affected dogs were heterozygous. Hytönen et al. (2019) reported a likely causal variant in Parson Russell Terriers: "A fully segregating missense variant (c.716C>T) in exon 8 of ENAM substitutes a well-conserved proline to leucine, p.(Pro239Leu), resulting in a clinical hypomineralization of teeth".

Prevalence

Hytönen et al. (2019) reported a carrier frequency of 9% for the c.716C>T ENAM variant in Parson Russell Terriers.

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 104500 Disease · OMIM 204650 Gene · OMIM 606585

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001805-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as amelogenesis imperfecta type 1C (MONDO:0008770).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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.

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. · Hum Genet · 2019 · PMID 30877375
Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. · Canine Genet Epidemiol · 2018 · PMID 29744112
An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. · Canine Genet Epidemiol · 2017 · PMID 29201383
Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. · Anim Genet · 2013 · PMID 23638899
Enamel defects in Standard Poodle dogs in Sweden. · Journal of Veterinary Dentistry · 2009

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 Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

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 Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI) looks like in your dog's breed.

Carrier frequency by breed

Top 11 well-sampled breeds (n ≥ 50)

Maximum carrier 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.

0%15%30%

Italian Greyhound22.6% · n 263

22.6%n 263

Parson Russell Terrier4.1% · n 181

4.1%n 181

Danish Swedish Farmdog3.3% · n 61

3.3%n 61

Russell Terrier0.42% · n 239

0.42%n 239

English Cocker Spaniel<0.1% · n 580

<0.1%n 580

Chihuahua<0.1% · n 4,273

<0.1%n 4,273

Boston Terrier<0.1% · n 3,702

<0.1%n 3,702

American Staffordshire Terrier<0.1% · n 42,793

<0.1%n 42,793

Border Collie<0.1% · n 6,714

<0.1%n 6,714

Pug<0.1% · n 5,154

<0.1%n 5,154

Pomeranian<0.1% · n 5,294

<0.1%n 5,294

n = 69,254 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 Amelogenesis Imperfecta (Discovered in the Parson Russell Terrier; AI) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Italian Greyhound	22.6%	[18.0%, 28.1%]	263
Parson Russell Terrier	4.1%	[2.1%, 8.1%]	181
Danish Swedish Farmdog	3.3%	[0.9%, 11.2%]	61
Russell Terrier	0.42%	[0.1%, 2.3%]	239
English Cocker Spaniel	<0.1%	[0.0%, 0.8%]	580
Chihuahua	<0.1%	[0.0%, 0.2%]	4,273
Boston Terrier	<0.1%	[0.0%, 0.2%]	3,702
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,793
Border Collie	<0.1%	[0.0%, 0.1%]	6,714
Pug	<0.1%	[0.0%, 0.1%]	5,154
Pomeranian	<0.1%	[0.0%, 0.1%]	5,294

▸ Also observed in 1 small-sample breed (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed	Estimate	Wilson 95% CI	n tested
Bedlington Terrier	4.5%	[0.5%, 32.1%]	11

254 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated: 3
Phenotype confirmed: 0
Penetrance range: not yet quantifiable

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by 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:001805-9615.
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.

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:001805-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001805-9615 · Donner et al. 2023