Details of Disease

General Information of Disease (ID: DISXX0H8)

• Disease Name: Mixed connective tissue disease
• Synonyms: connective tissue disease overlap syndrome; MCTD; sharp syndrome; mixed collagen vascular disease
• Disease Class: 4A43: Sjogren syndrome
• Definition: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.
• Disease Hierarchy:
  DISSDDNA: Overlapping connective tissue disease
  DIS77ACK: Rheumatic disorder
  DISXX0H8: Mixed connective tissue disease
• ICD Code:
  ICD-11: ICD-11: 4A43.3
  ICD-10: ICD-10: M35, M35.1
  Expand ICD-11: '4A43.3
  Expand ICD-10: 'M35; 'M35.1
• Disease Identifiers:
  MONDO ID: MONDO_0005854
  MESH ID: D008947
  UMLS CUI: C0026272
  MedGen ID: 10069
  Orphanet ID: 809
  SNOMED CT ID: 398021003

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Bardoxolone methyl	DMODA2X	Phase 3	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRB	TT84HCW	Disputed	Biomarker	[2]
ENAH	TTY36UA	Definitive	Biomarker	[3]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RO60	OTLGM5A8	Disputed	Genetic Variation	[4]
SNRPA	OT02TSQT	Disputed	Biomarker	[5]
HLA-DRB4	OTNXIHQU	Strong	Altered Expression	[2]
HNRNPAB	OTUKPFOK	Strong	Biomarker	[6]
HNRNPC	OT47AK4C	Strong	Biomarker	[6]
HNRNPDL	OTB3BFCV	Strong	Biomarker	[6]
LSM2	OTHL77NY	Strong	Biomarker	[7]
MPP1	OTA2ENZQ	Strong	Biomarker	[8]
NT5C1A	OTS7UF36	Strong	Genetic Variation	[9]
POLG2	OTDBMZJB	Strong	Biomarker	[8]
PSMD12	OTWICA51	Strong	Biomarker	[8]
RNPC3	OTW5MKC1	Strong	Biomarker	[10]
SNRNP70	OTP52YZ3	Strong	Genetic Variation	[11]

References

• [1] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [2] CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease.J Immunol. 2008 Jun 15;180(12):8444-54. doi: 10.4049/jimmunol.180.12.8444.
• [3] Prevalence of autoimmune diseases and clinical significance of autoantibody profile: Data from National Institute of Hygiene in Rabat, Morocco.Hum Immunol. 2019 Jul;80(7):523-532. doi: 10.1016/j.humimm.2019.02.012. Epub 2019 Feb 23.
• [4] Interferons (IFN-A/-B/-G) Genetic Variants in Patients with Mixed Connective Tissue Disease (MCTD).J Clin Med. 2019 Nov 21;8(12):2046. doi: 10.3390/jcm8122046.
• [5] Clonotype analysis of peripheral blood T cells and autoantigen-reactive T cells from patients with mixed connective tissue disease.J Immunol. 1994 Oct 15;153(8):3784-90.
• [6] Identification of autoantibodies to the I protein of the heterogeneous nuclear ribonucleoprotein complex in patients with systemic sclerosis.Arthritis Rheum. 1996 Oct;39(10):1669-76. doi: 10.1002/art.1780391009.
• [7] Mixed Connective Tissue Disease and Epitope Spreading: An Historical Cohort Study.J Clin Rheumatol. 2017 Apr;23(3):155-159. doi: 10.1097/RHU.0000000000000500.
• [8] Antibodies to retroviral proteins in autoimmune connective tissue disease. Relation to clinical manifestations and ribonucleoprotein autoantibodies.Arthritis Rheum. 1992 Dec;35(12):1483-91. doi: 10.1002/art.1780351212.
• [9] Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts.Clin Chim Acta. 2017 Sep;472:1-4. doi: 10.1016/j.cca.2017.07.002. Epub 2017 Jul 4.
• [10] Facts and controversies in mixed connective tissue disease.Med Clin (Barc). 2018 Jan 12;150(1):26-32. doi: 10.1016/j.medcli.2017.06.066. Epub 2017 Aug 31.
• [11] Is the T-G-CT-G SNRNP70 haplotype another proof that mixed connective tissue disease is distinct from systemic lupus erythematosus and systemic sclerosis? A novel gene variant in SNRNP70 gene.Clin Exp Rheumatol. 2019 Jul-Aug;37 Suppl 119(4):32-40. Epub 2019 Sep 17.