factor XIII deficiency

Term ID

DOID:2211

Synonyms

• deficiency, Laki-Lorand factor
• Factor XIII deficiency disease
• Hereditary factor XIII deficiency disease

Definition

A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. (3)

References

• GARD:10766
• MESH:D005177
• NCI:C98941
• OMIM:613225
• OMIM:613235
• SNOMEDCT_US_2023_03_01:50189006
• UMLS_CUI:C0015530

Ontology

Human Disease   ( DOID:2211 )