Details of Disease

General Information of Disease (ID: DISE5B8Z)

Disease Name	Sarcoidosis
Synonyms	benign lymphogranulomatosis of Schaumann; lupus pernio of Besnier; miliary lupoid of boeck; lymphogranulomatosis; besnier-Boeck-Schaumann syndrome; Besnier-Boeck-Schaumann disease; Boeck's sarcoidosis; Boeck's sarcoid; sarcoid; Boeck sarcoid; Darier-Roussy sarcoid; sarcoidosis
Disease Class	4B20: Sarcoidosis
Definition	Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.\|Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230).
Disease Hierarchy	DISCMCGL: Autoinflammatory syndrome DISE5B8Z: Sarcoidosis
ICD Code	ICD-11 ICD-11: 4B20.5 ICD-10 ICD-10: D86.3 ICD-9 ICD-9: 135 Expand ICD-11 '4B20 Expand ICD-10 'D86; 'D86.2; 'D86.8; 'D86.9 Expand ICD-9 135
Disease Identifiers	MONDO ID MONDO_0019338 MESH ID D012507 UMLS CUI C0036202 MedGen ID 48554 Orphanet ID 797 SNOMED CT ID 31541009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 11 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Adalimumab	DMQMV1B	Approved	Antibody	[1]
Betamethasone	DMAHJEF	Approved	Small molecular drug	[2]
Collagenase clostridium histolyticum	DM6L75O	Approved	NA	[3]
Cortisone Acetate	DMG8K57	Approved	Small molecular drug	[4]
Cureskin	DMTN09K	Approved	NA	[5]
Dexamethasone	DMMWZET	Approved	Small molecular drug	[6]
Hydrocortisone	DMGEMB7	Approved	Small molecular drug	[7]
Methylprednisolone	DM4BDON	Approved	Small molecular drug	[8]
Prednisolone	DMQ8FR2	Approved	Small molecular drug	[9]
Prednisone	DM2HG4X	Approved	Small molecular drug	[10]
Triamcinolone	DM98IXF	Approved	Small molecular drug	[11]
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⏷ Show the Full List of 11 Drug(s)

This Disease is Treated as An Indication in 9 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Avotermin	DMRJK3U	Phase 3	NA	[12]
CC-220	DMNE7L3	Phase 2	Small molecular drug	[13]
Cibinetide	DMCFLRH	Phase 2	NA	[14]
FX-125L	DMMQIZ5	Phase 2	NA	[15]
Ilodecakin	DMDNHRA	Phase 2	NA	[16]
JB991	DMKU6MW	Phase 2	NA	[17]
Juvidex	DMZKYNO	Phase 2	NA	[18]
PXL-01	DM2FHXS	Phase 2	NA	[19]
XTMAB-16	DMPSNSC	Phase 1/2	Antibody	[20]
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⏷ Show the Full List of 9 Drug(s)

This Disease is Treated as An Indication in 1 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
RN-1005	DMHQ5ZE	Terminated	NA	[21]
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This Disease is Treated as An Indication in 4 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ADE-DERM	DMD8UKC	Investigative	NA	[22]
DasKloster 0182-01	DMSI78A	Investigative	NA	[22]
Decorin-like collagen-binding peptidoglycan	DMD49A7	Investigative	NA	[22]
FibroStem	DMAU836	Investigative	NA	[22]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 40 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CCL3	TT8I4WB	Limited	Biomarker	[23]
FCGR2A	TTXT21W	Limited	Genetic Variation	[24]
LTA	TTP73TM	Limited	Genetic Variation	[25]
IL18	TTRICUF	Disputed	Biomarker	[26]
CHIT1	TTDYX6T	moderate	Biomarker	[27]
APEH	TTYWEDQ	Strong	Biomarker	[28]
CCL17	TTMPHAE	Strong	Biomarker	[29]
CCR5	TTJIH8Q	Strong	Genetic Variation	[30]
CD14	TT6I7DC	Strong	Altered Expression	[31]
CD3G	TTV3XPL	Strong	Biomarker	[32]
CEL	TTTRNQW	Strong	Biomarker	[33]
CR1	TTEA8OW	Strong	Biomarker	[31]
CYP21A2	TTP4GLG	Strong	Genetic Variation	[34]
EPHX2	TT7WVHI	Strong	Altered Expression	[35]
F13A1	TTXI2RA	Strong	Genetic Variation	[36]
FCGR1A	TTZK4I3	Strong	Biomarker	[31]
FCGR3A	TTIFOC0	Strong	Biomarker	[37]
FOLH1	TT9G4N0	Strong	Biomarker	[38]
GLRX	TTRJCNG	Strong	Biomarker	[39]
GNAO1	TTAXD8Z	Strong	Biomarker	[40]
HLA-DQB2	TTL7VOU	Strong	Biomarker	[40]
ICOSLG	TTB9Z8R	Strong	Biomarker	[41]
IL19	TT87RWS	Strong	Altered Expression	[42]
IL31	TT1RJXK	Strong	Altered Expression	[43]
KIR2DL1	TT4UXPE	Strong	Genetic Variation	[44]
LYZ	TTAOZBW	Strong	Biomarker	[45]
MMP12	TTXZ0KQ	Strong	Altered Expression	[46]
NOTCH4	TTXDIK2	Strong	Genetic Variation	[47]
RIPK2	TTCQ2E5	Strong	Biomarker	[48]
RTN4	TT7GXMU	Strong	Biomarker	[49]
SCGB1A1	TTONPVW	Strong	Genetic Variation	[50]
SLC44A4	TT0NYDG	Strong	Genetic Variation	[47]
ST8SIA4	TTDP8YM	Strong	Biomarker	[51]
TCL1A	TTUKRDV	Strong	Altered Expression	[52]
TGFB3	TTWOMY8	Strong	Genetic Variation	[53]
TLR6	TTWRI8V	Strong	Genetic Variation	[54]
TYK2	TTBYWP2	Strong	Genetic Variation	[55]
CCL5	TT9DWLC	Definitive	Biomarker	[56]
CXCL9	TTWE5PB	Definitive	Altered Expression	[57]
HLA-B	TTGS10J	Definitive	Genetic Variation	[34]
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⏷ Show the Full List of 40 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A5	DT0TQS3	Strong	Biomarker	[33]
SLC11A1	DT650XW	Definitive	Biomarker	[58]
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This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	DE3FYEM	Strong	Altered Expression	[59]
MANBA	DEMH6UB	Strong	Genetic Variation	[55]
VARS1	DEUPF5K	Strong	Genetic Variation	[34]
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This Disease Is Related to 82 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPA1L	OTC2V1K6	Limited	Genetic Variation	[60]
IL4I1	OTK54C63	Limited	Altered Expression	[61]
SEMA4A	OT8901H3	Limited	Biomarker	[62]
TAP2	OTWSYFI7	Limited	Genetic Variation	[63]
BTNL2	OTTTEMZA	moderate	Genetic Variation	[64]
HLA-DQB1	OTVVI3UI	moderate	Genetic Variation	[47]
ACKR4	OTZPWT2N	Strong	Biomarker	[65]
ADAMDEC1	OTMT7ZMG	Strong	Altered Expression	[46]
APOM	OTI3FQQC	Strong	Genetic Variation	[34]
ATF6B	OTT2ZGSR	Strong	Genetic Variation	[34]
ATP8A2	OTDZC2ZT	Strong	Genetic Variation	[47]
BBS2	OTPF9JIB	Strong	Genetic Variation	[66]
C10orf67	OTX24W0H	Strong	Genetic Variation	[67]
C1orf141	OTASPHL0	Strong	Genetic Variation	[55]
C6orf15	OT5AQWAO	Strong	Genetic Variation	[34]
CCL1	OT23NON8	Strong	Altered Expression	[68]
CCL13	OTNX0JD0	Strong	Altered Expression	[69]
CCL15	OTOGZ85M	Strong	Biomarker	[70]
CCL16	OTOOQI1F	Strong	Altered Expression	[71]
CCL8	OTCTWYN8	Strong	Altered Expression	[69]
CD200R1	OT65Q9M6	Strong	Altered Expression	[72]
CDH4	OT8LH3HN	Strong	Genetic Variation	[73]
CHI3L1	OT2Z7VJH	Strong	Altered Expression	[74]
CIITA	OTRJNZFO	Strong	Genetic Variation	[75]
CUL9	OTPUCLZT	Strong	Altered Expression	[76]
CXCL5	OTZOUPCA	Strong	Altered Expression	[77]
DDX41	OT6KEIHP	Strong	Genetic Variation	[78]
DNAH11	OT6IYFVV	Strong	Biomarker	[79]
DPM2	OTDERBWM	Strong	Biomarker	[80]
FAM117B	OT11P91V	Strong	Genetic Variation	[55]
FCGR2C	OTNLMNYB	Strong	Genetic Variation	[81]
FCGR3B	OTSLSPZG	Strong	Biomarker	[24]
FLG	OTE9QDV6	Strong	Biomarker	[82]
GPR162	OTK4LT3K	Strong	Genetic Variation	[83]
GTF2H4	OTPD1DIU	Strong	Genetic Variation	[34]
HLA-C	OTV38BUJ	Strong	Genetic Variation	[47]
HLA-DOB	OTKADDUB	Strong	Genetic Variation	[34]
HLA-DPA1	OT7OG7Y2	Strong	Biomarker	[84]
HLA-DQA2	OT1DH0N9	Strong	Genetic Variation	[34]
HLA-DRB4	OTNXIHQU	Strong	Genetic Variation	[85]
HNRNPD	OT5UO1FA	Strong	Altered Expression	[86]
IFNA10	OTO2FEXF	Strong	Genetic Variation	[87]
IFNA17	OTHXRYG3	Strong	Biomarker	[87]
IL9R	OTILCLXA	Strong	Biomarker	[88]
INTS4	OT5JQ913	Strong	Genetic Variation	[58]
KALRN	OT8WRCBH	Strong	Biomarker	[89]
KNL1	OT4Q3LHV	Strong	Biomarker	[79]
LMOD1	OTZ2MEMG	Strong	Genetic Variation	[90]
MARCHF7	OTG9SF10	Strong	Biomarker	[91]
MPP1	OTA2ENZQ	Strong	Biomarker	[92]
NDC80	OTS7D306	Strong	Biomarker	[93]
NOCT	OTVSYP2D	Strong	Biomarker	[94]
NT5C3A	OT67KZJA	Strong	Biomarker	[95]
NUP214	OTWEA19O	Strong	Biomarker	[80]
OBSCN	OTT14OVX	Strong	Biomarker	[79]
OPN1MW	OTPJ7LX4	Strong	Altered Expression	[96]
OR12D3	OTQ9XNBB	Strong	Genetic Variation	[34]
OR5V1	OTSYXOD6	Strong	Genetic Variation	[34]
ORM1	OTZKSBRE	Strong	Genetic Variation	[97]
OTUD1	OTE6O5XB	Strong	Genetic Variation	[67]
PARP9	OT7K4494	Strong	Biomarker	[33]
POLG2	OTDBMZJB	Strong	Biomarker	[92]
PSMB2	OTX0UG5W	Strong	Altered Expression	[98]
PSMD12	OTWICA51	Strong	Biomarker	[92]
PTPN23	OT5WDPXB	Strong	Biomarker	[80]
RAB23	OTBAKFBR	Strong	Biomarker	[99]
RPL32	OTKRQJT4	Strong	Altered Expression	[98]
RREB1	OT62460U	Strong	Biomarker	[79]
RTN1	OTCX1SMK	Strong	Biomarker	[49]
SAA2	OTYAVJWG	Strong	Biomarker	[100]
SEC16A	OTFNQ1ZU	Strong	Biomarker	[79]
SMUG1	OT2YIOCQ	Strong	Biomarker	[101]
SNRNP70	OTP52YZ3	Strong	Biomarker	[29]
SP140	OTQZHFMT	Strong	Genetic Variation	[55]
SPECC1	OTPEML48	Strong	Biomarker	[49]
STK19	OTYM6437	Strong	Genetic Variation	[34]
TCL1B	OT4CSO39	Strong	Altered Expression	[52]
TLR10	OTQ1KVJO	Strong	Genetic Variation	[54]
TMEM131	OT72FBLT	Strong	Genetic Variation	[102]
TSBP1	OT5GE8IO	Strong	Genetic Variation	[34]
HLA-DMB	OT17HGXJ	Definitive	Genetic Variation	[34]
HLA-DRA	OT7KZMP2	Definitive	Genetic Variation	[34]
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⏷ Show the Full List of 82 DOT(s)

References

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8	Methylprednisolone FDA Label
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11	Triamcinolone FDA Label
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35	Soluble epoxide hydrolase derived lipid mediators are elevated in bronchoalveolar lavage fluid from patients with sarcoidosis: a cross-sectional study.Respir Res. 2018 Dec 3;19(1):236. doi: 10.1186/s12931-018-0939-0.
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40	Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy.Sarcoidosis Vasc Diffuse Lung Dis. 2005 Jun;22(2):129-32. doi: 10.1007/s11083-005-9013-x.
41	Pulmonary sarcoidosis is associated with high-level inducible co-stimulator (ICOS) expression on lung regulatory T cells--possible implications for the ICOS/ICOS-ligand axis in disease course and resolution.Clin Exp Immunol. 2016 Feb;183(2):294-306. doi: 10.1111/cei.12715. Epub 2015 Nov 24.
42	Expression of interleukin (IL)-10 family cytokines in aqueous humour of patients with specific endogenous uveitic entities: elevated levels of IL-19 in human leucocyte antigen-B27-associated uveitis.Acta Ophthalmol. 2019 Aug;97(5):e780-e784. doi: 10.1111/aos.14039. Epub 2019 Feb 13.
43	Association between aqueous humor and vitreous fluid levels of Th17 cell-related cytokines in patients with proliferative diabetic retinopathy.PLoS One. 2017 May 30;12(5):e0178230. doi: 10.1371/journal.pone.0178230. eCollection 2017.
44	Human leukocyte antigen-DR alleles influence the clinical course of pulmonary sarcoidosis in Asian Indians.Am J Respir Cell Mol Biol. 2003 Aug;29(2):225-31. doi: 10.1165/rcmb.2003-0007OC. Epub 2003 Feb 14.
45	Prognostic Biomarkers of Sarcoidosis: A Comparative Study of Serum Chitotriosidase, ACE, Lysozyme, and KL-6.Dis Markers. 2019 Mar 3;2019:8565423. doi: 10.1155/2019/8565423. eCollection 2019.
46	Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis.Am J Respir Crit Care Med. 2009 May 15;179(10):929-38. doi: 10.1164/rccm.200803-490OC. Epub 2009 Feb 12.
47	Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.PLoS One. 2012;7(8):e43907. doi: 10.1371/journal.pone.0043907. Epub 2012 Aug 27.
48	Identification of Novel Protein Kinase Receptor Type 2 Inhibitors Using Pharmacophore and Structure-Based Virtual Screening.Molecules. 2018 Feb 18;23(2):453. doi: 10.3390/molecules23020453.
49	Quantifying the relationship between symptoms at presentation and the prognosis of sarcoidosis.Respir Med. 2019 Jun;152:14-19. doi: 10.1016/j.rmed.2019.03.012. Epub 2019 Mar 23.
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62	Proliferative response of peripheral blood mononuclear cells and levels of antibody to recombinant protein from Propionibacterium acnes DNA expression library in Japanese patients with sarcoidosis.Sarcoidosis Vasc Diffuse Lung Dis. 2000 Oct;17(3):256-65.
63	Human leukocyte antigen-DRB1 position 11 residues are a common protective marker for sarcoidosis.Am J Respir Cell Mol Biol. 2001 Sep;25(3):272-7. doi: 10.1165/ajrcmb.25.3.4261.
64	BTNL2 gene polymorphism and sarcoid uveitis.Br J Ophthalmol. 2019 Dec;103(12):1690-1694. doi: 10.1136/bjophthalmol-2018-312949. Epub 2019 Mar 14.
65	Expression of CCX CKR in pulmonary sarcoidosis.Inflamm Res. 2006 Oct;55(10):441-5. doi: 10.1007/s00011-006-6019-9.
66	Osteoprotegerin/sRANKL Signaling System in Pulmonary Sarcoidosis: A Bronchoalveolar Lavage Study.Adv Exp Med Biol. 2017;944:1-7. doi: 10.1007/5584_2016_44.
67	Fine-mapping in African-American women confirms the importance of the 10p12 locus to sarcoidosis.Genes Immun. 2012 Oct;13(7):573-8. doi: 10.1038/gene.2012.42. Epub 2012 Sep 13.
68	Comparison of the chemokine profiles in the bronchoalveolar lavage fluid between IgG4-related respiratory disease and sarcoidosis: CC-chemokine ligand 1 might be involved in the pathogenesis of sarcoidosis.Cytokine. 2019 Aug;120:125-129. doi: 10.1016/j.cyto.2019.04.017. Epub 2019 May 4.
69	The CC chemokines CCL8, CCL13 and CCL20 are local inflammatory biomarkers of HLA-B27-associated uveitis.Acta Ophthalmol. 2019 Feb;97(1):e122-e128. doi: 10.1111/aos.13835. Epub 2018 Sep 21.
70	Expression of macrophage inflammatory protein-3 beta/CCL19 in pulmonary sarcoidosis.Am J Respir Crit Care Med. 2003 Jun 15;167(12):1695-703. doi: 10.1164/rccm.200205-487OC. Epub 2003 Mar 5.
71	Elevated concentrations of liver-expressed chemokine/CC chemokine ligand 16 in bronchoalveolar lavage fluid from patients with eosinophilic pneumonia.Int Arch Allergy Immunol. 2009;150(3):282-90. doi: 10.1159/000222681. Epub 2009 Jun 4.
72	Reduced expression of monocyte CD200R is associated with enhanced proinflammatory cytokine production in sarcoidosis.Sci Rep. 2016 Dec 8;6:38689. doi: 10.1038/srep38689.
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