Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613329 (trait) , 173360 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0013227: congenital plasminogen activator inhibitor type 1 deficiency

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Species-specific name: Hyperfibrinolysis

Molecular basis: Kilpatrick et al. (2025) : "Whole genome sequencing of the [English Springer Spaniel, ESS] proband identified a unique homozygous insertion at chr6:8640592 [omia.variant:1812] in exon 1 of SERPINE1, which is predicted to cause a premature stop codon. The unaffected littermate was heterozygous for the mutation. Two unrelated ESS and 1 [Welsh Springer Spaniel] WSS with post-operative hemorrhage were homozygous for the mutation." 

Clinical features: Kilpatrick et al. (2025) "A 7-month-old female spayed English Springer Spaniel (ESS) was evaluated for spontaneous hemoperitoneum. Hyperfibrinolysis was identified on thromboelastography.  ....  Absence of PAI-1 in the proband's platelets was documented using LC–MS/MS."

Breeds: English Springer Spaniel (Dog) (VBO_0200497), Welsh Springer Spaniel (Dog) (VBO_0201411).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: