factor XIII deficiency

Summary
Synonym
  • Factor XIII deficiency disease
  • Hereditary factor XIII deficiency disease
  • deficiency, Laki-Lorand factor
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.
Super Class
autosomal recessive disease blood coagulation disease
Disease Ontology
DOID:2211
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2162 F13A1 coagulation factor XIII A chain
3998 LMAN1 lectin, mannose binding 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
70361 Lman1 lectin, mannose-binding, 1
74145 F13a1 coagulation factor XIII, A1 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
60327 F13a1 coagulation factor XIII A1 chain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024