Norwich Terrier — Diffuse cystic renal dysplasia and hepatic fibrosis (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Norwich Terrier (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: 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 fibrosisDefect: yesPathology: 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+5GA] 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.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: PMPCA (Entrez Gene ID 388303165) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: 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."
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2018. A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PLoS One — PubMed:PMID30235266 | DOI:10.1371/journal.pone.0204073 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:213300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613037 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."