Details of Disease | DrugMAP

General Information of Disease (ID: DISKEGBP)

Disease Name	Factor XIII, A subunit, deficiency of
Synonyms	hereditary factor XIII alpha subunit deficiency; hereditary factor XIII A subunit deficiency; factor XIII, A subunit, deficiency of; hereditary factor XIII type II deficiency; factor XIIIA deficiency
Disease Hierarchy	DIS1DL2M: Inherited blood coagulation disorder DISZIQLL: Congenital factor XIII deficiency DISKEGBP: Factor XIII, A subunit, deficiency of
Disease Identifiers	MONDO ID MONDO_0013187 MESH ID C567691 UMLS CUI C2750514 OMIM ID 613225 MedGen ID 442497 HPO ID HP:0040233 SNOMED CT ID 439455002

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
F13A1	TTXI2RA	Strong	CausalMutation	[1]
F13A1	TTXI2RA	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
F13A1	OTO8O184	Definitive	Autosomal recessive	[2]
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References

1	Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A(2).Haemophilia. 2017 May;23(3):e194-e203. doi: 10.1111/hae.13233.
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.