Details of Disease

General Information of Disease (ID: DISYF5LP)

Disease Name	Diffuse systemic sclerosis
Synonyms	systemic sclerosis, diffuse; diffuse systemic sclerosis
Disease Class	4A42: Systemic sclerosis
Definition	A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.
Disease Hierarchy	DISF44L6: Systemic sclerosis DISYF5LP: Diffuse systemic sclerosis
ICD Code	ICD-11 ICD-11: 4A42.1 ICD-10 ICD-10: M34.0 Expand ICD-11 '4A42.1 Expand ICD-10 'M34.0
Disease Identifiers	MONDO ID MONDO_0005019 MESH ID D045743 UMLS CUI C1258104 MedGen ID 219839 SNOMED CT ID 128460000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CPL-7075	DM62E7C	Phase 3	Small molecular drug	[1]
ARG201	DM3XQLD	Phase 2	NA	[2]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HLA-DRB1	TTUXSTW	Limited	Biomarker	[3]
CAV1	TTXUBN2	Strong	SusceptibilityMutation	[4]
CCN2	TTIL516	Strong	Biomarker	[5]
CCR6	TTFDB30	Strong	SusceptibilityMutation	[6]
CRLF2	TTRMZ0N	Strong	Biomarker	[7]
------------------------------------------------------------------------------------

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BANK1	OTXAAA11	Strong	Genetic Variation	[8]
CD180	OTITK5E6	Strong	Altered Expression	[9]
COL22A1	OTSWGZRD	Strong	Biomarker	[10]
CYCS	OTBFALJD	Strong	Biomarker	[11]
EIF2B1	OT4NCVY1	Strong	Biomarker	[12]
EIF2B2	OTQQMHM1	Strong	Biomarker	[12]
EIF2B4	OTTM5SX1	Strong	Biomarker	[12]
EIF2S2	OTXF0B09	Strong	Biomarker	[12]
IRF5	OT8SIIAP	Strong	SusceptibilityMutation	[13]
SS18L1	OT9ZEGV7	Strong	Biomarker	[14]
------------------------------------------------------------------------------------


⏷ Show the Full List of 10 DOT(s)

References

1	ClinicalTrials.gov (NCT03398837) Trial to Evaluate Efficacy and Safety of Lenabasum in Diffuse Cutaneous Systemic Sclerosis (RESOLVE-1). U.S. National Institutes of Health.
2	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800026882)
3	Association of DM genes in systemic sclerosis is secondary to the association with HLA genes.Scand J Rheumatol. 1997;26(3):174-9. doi: 10.3109/03009749709065677.
4	Evidence for caveolin-1 as a new susceptibility gene regulating tissue fibrosis in systemic sclerosis.Ann Rheum Dis. 2012 Jun;71(6):1034-41. doi: 10.1136/annrheumdis-2011-200986. Epub 2012 Mar 8.
5	Loss of PTEN expression by dermal fibroblasts causes skin fibrosis.J Invest Dermatol. 2011 Oct;131(10):1996-2003. doi: 10.1038/jid.2011.156. Epub 2011 Jun 9.
6	A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis.Arthritis Rheum. 2013 Dec;65(12):3202-8. doi: 10.1002/art.38136.
7	Thymic stromal lymphopoietin is up-regulated in the skin of patients with systemic sclerosis and induces profibrotic genes and intracellular signaling that overlap with those induced by interleukin-13 and transforming growth factor .Arthritis Rheum. 2013 May;65(5):1335-46. doi: 10.1002/art.37859.
8	BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians.Ann Rheum Dis. 2010 Apr;69(4):700-5. doi: 10.1136/ard.2009.118174. Epub 2009 Oct 8.
9	Toll-Like Receptor Mediated Activation of Natural Autoantibody Producing B Cell Subpopulations in an Autoimmune Disease Model.Int J Mol Sci. 2019 Dec 6;20(24):6152. doi: 10.3390/ijms20246152.
10	Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.Arthritis Rheumatol. 2016 Sep;68(9):2257-62. doi: 10.1002/art.39721.
11	Treatment with cyclophosphamide i.v. pulse therapy is an option for effective treatment of skin fibrosis in patients with early systemic sclerosis.Rheumatology (Oxford). 2020 Jul 1;59(7):1550-1555. doi: 10.1093/rheumatology/kez487.
12	Presence of anti-eukaryotic initiation factor-2B, anti-RuvBL1/2 and anti-synthetase antibodies in patients with anti-nuclear antibody negative systemic sclerosis.Rheumatology (Oxford). 2018 Apr 1;57(4):712-717. doi: 10.1093/rheumatology/kex458.
13	The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.PLoS One. 2013;8(1):e54419. doi: 10.1371/journal.pone.0054419. Epub 2013 Jan 23.
14	DNA-DR typing shows HLA-DRw11 RFLPs are increased in frequency in both progressive systemic sclerosis and CREST variants of scleroderma.Tissue Antigens. 1989 Mar;33(3):418-20. doi: 10.1111/j.1399-0039.1989.tb01686.x.