Details of Disease

General Information of Disease (ID: DISZIQLL)

• Disease Name: Congenital factor XIII deficiency
• Synonyms: factor XIII deficiency; fibrin stabilizing factor deficiency; fibrin stabilising factor deficiency; fibrin-stabilizing factor deficiency; deficiency, Laki-Lorand factor; hereditary factor XIII deficiency disease; factor XIII deficiency disease
• Definition: Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.
• Disease Hierarchy:
  DISSTHQK: Factor XIII deficiency
  DISAWDAB: Congenital hematological disorder
  DIS27CUA: Bleeding disorder
  DISZIQLL: Congenital factor XIII deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0018029
  MESH ID: D005177
  UMLS CUI: C0015530
  MedGen ID: 4639
  Orphanet ID: 331
  SNOMED CT ID: 50189006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F13A1	TTXI2RA	Supportive	Autosomal recessive	[1]
F13B	TTAXGIP	Supportive	Autosomal recessive	[1]
F13A1	TTXI2RA	Strong	Genetic Variation	[2]
F13B	TTAXGIP	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F13A1	OTO8O184	Supportive	Autosomal recessive	[1]
F13B	OTIZXROK	Supportive	Autosomal recessive	[1]
NBEAL2	OTMCAXWR	Strong	Genetic Variation	[2]

References

• [1] Novel aspects of factor XIII deficiency. Curr Opin Hematol. 2011 Sep;18(5):366-72. doi: 10.1097/MOH.0b013e3283497e3e.
• [2] Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency.Gene. 2019 Jun 20;702:143-147. doi: 10.1016/j.gene.2019.03.067. Epub 2019 Mar 29.