Details of Disease | DrugMAP

General Information of Disease (ID: DISMLRSW)

Disease Name	Inherited prekallikrein deficiency
Synonyms	Fletcher Factor deficiency; prekallikrein deficiency, congenital; PKK deficiency; prekallikrein deficiency; fletcher factor (prekallikrein) deficiency; hereditary prekallikrein deficiency; congenital prekallikrein deficiency
Definition	An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.
Disease Hierarchy	DISEXNCF: Coagulation protein disease DISR1545: Prekallikrein deficiency DIS1DL2M: Inherited blood coagulation disorder DIS27CUA: Bleeding disorder DISMLRSW: Inherited prekallikrein deficiency

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
KLKB1	TTMF8H9	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLKB1	OTGSEISX	Definitive	Autosomal recessive	[1]
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References

1	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.