Details of Disease | DrugMAP

General Information of Disease (ID: DISAM9XP)

Disease Name	Complement factor H deficiency
Synonyms	factor H deficiency; CFHD; Cfh deficiency; complement factor H deficiency
Disease Hierarchy	DISECBR1: Hereditary nephritis DISLMV1J: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis DISAM9XP: Complement factor H deficiency
Disease Identifiers	MONDO ID MONDO_0012350 MESH ID C562875 UMLS CUI C0398777 OMIM ID 609814 MedGen ID 96024 SNOMED CT ID 234622003

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
CFH	TTUW6OP	Strong	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
CFH	OTAGKQTJ	Strong	Autosomal recessive	[1]
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References

1	Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet. 2001 Feb;68(2):485-90. doi: 10.1086/318203. Epub 2001 Jan 17.