Details of Disease | DrugMAP

General Information of Disease (ID: DIS9RKY9)

Disease Name	Autosomal systemic lupus erythematosus type 16
Synonyms	autosomal SLE; familial systemic lupus erythematosus; familial SLE; SLEB16; systemic lupus erythematosus type 16; systemic lupus erythematosus 16
Definition	An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.\|Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164
Disease Hierarchy	DISI1SZ7: Systemic lupus erythematosus DIS8I9FS: Hereditary disorder of connective tissue DIS9RKY9: Autosomal systemic lupus erythematosus type 16
Disease Identifiers	MONDO ID MONDO_0013743 UMLS CUI C3280742 OMIM ID 614420 MedGen ID 482372 Orphanet ID 300345

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNASE1	TTYWGOJ	Supportive	Autosomal dominant	[1]
PRKCD	TT9WJ8U	Supportive	Autosomal dominant	[2]
DNASE1	TTYWGOJ	Strong	GermlineCausalMutation	[1]
PRKCD	TT7A1BO	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1R	OTA0ZNIU	Supportive	Autosomal dominant	[3]
DNASE1	OTM4KWB3	Supportive	Autosomal dominant	[1]
PRKCD	OTSEH90E	Supportive	Autosomal dominant	[2]
C1QA	OT6XKVVA	Strong	SusceptibilityMutation	[4]
C4A	OTXMOYXU	Strong	SusceptibilityMutation	[4]
DNASE1L3	OTEUIMC2	Strong	Autosomal recessive	[5]
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⏷ Show the Full List of 6 DOT(s)

References

1	Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001 Aug;28(4):313-4. doi: 10.1038/91070.
2	Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8.
3	Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease. Arthritis Rheumatol. 2017 Sep;69(9):1832-1839. doi: 10.1002/art.40158. Epub 2017 Jul 10.
4	The role of complement in the development of systemic lupus erythematosus.Annu Rev Immunol. 2004;22:431-56. doi: 10.1146/annurev.immunol.22.012703.104549.
5	Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975.