General Information of Disease (ID: DISSTHQK)

Disease Name Factor XIII deficiency
Synonyms FXIIID
Definition An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.
Disease Hierarchy
DISEXNCF: Coagulation protein disease
DISSTHQK: Factor XIII deficiency
Disease Identifiers
MONDO ID
MONDO_0002241
UMLS CUI
C4316906
MedGen ID
1385982
SNOMED CT ID
18604004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F13A1 TTXI2RA Strong Genetic Variation [1]
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References

1 Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.Orphanet J Rare Dis. 2019 Jul 24;14(1):182. doi: 10.1186/s13023-019-1144-z.