Details of Disease | DrugMAP

General Information of Disease (ID: DISCXR1Y)

Disease Name	Factor XIII, b subunit, deficiency of
Synonyms	factor XIII, b subunit, deficiency of; factor XIIIB deficiency
Disease Hierarchy	DIS1DL2M: Inherited blood coagulation disorder DISZIQLL: Congenital factor XIII deficiency DISCXR1Y: Factor XIII, b subunit, deficiency of
Disease Identifiers	MONDO ID MONDO_0013190 MESH ID C567688 UMLS CUI C2750481 OMIM ID 613235 MedGen ID 442490 HPO ID HP:0040234

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F13B	TTAXGIP	Strong	Genetic Variation	[1]
F13B	TTAXGIP	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F13B	OTIZXROK	Definitive	Autosomal recessive	[2]
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References

1	Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.Mol Genet Genomic Med. 2015 Jul;3(4):258-71. doi: 10.1002/mgg3.138. Epub 2015 Apr 10.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.