Details of Disease | DrugMAP

General Information of Disease (ID: DISD57HO)

Disease Name	Recurrent Neisseria infections due to factor D deficiency
Synonyms	CFDD; factor D deficiency; complement factor D deficiency; recurrent Neisseria infections due to factor D deficiency
Disease Hierarchy	DISGN469: Complement deficiency DISD57HO: Recurrent Neisseria infections due to factor D deficiency
Disease Identifiers	MONDO ID MONDO_0013487 MESH ID C565027 UMLS CUI C0398764 OMIM ID 613912 MedGen ID 97989 Orphanet ID 169467 SNOMED CT ID 234607008

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
CFD	TT8D13I	Strong	Autosomal recessive	[1]
CFD	TT8D13I	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFD	OTLNRXB6	Strong	Autosomal recessive	[1]
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References

1	A family with complement factor D deficiency. J Clin Invest. 2001 Jul;108(2):233-40. doi: 10.1172/JCI12023.
2	A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.J Allergy Clin Immunol. 2018 Jul;142(1):311-314.e6. doi: 10.1016/j.jaci.2018.01.048. Epub 2018 Mar 6.