Details of Disease

General Information of Disease (ID: DISCI8JQ)

• Disease Name: Rheumatic heart disease
• Synonyms: RHD; disease, rheumatic heart; rheumatic carditis; heart disease, rheumatic
• Definition: An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.
• Disease Hierarchy:
  DIS184KT: Skin inflammation
  DISVO1I5: Cardiac disease
  DISCI8JQ: Rheumatic heart disease
• Disease Identifiers:
  MONDO ID: MONDO_0006955
  MESH ID: D012214
  UMLS CUI: C0035439
  MedGen ID: 20565
  SNOMED CT ID: 23685000

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 8 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Betamethasone	DMAHJEF	Approved	Small molecular drug	[1]
Cortisone Acetate	DMG8K57	Approved	Small molecular drug	[2]
Dexamethasone	DMMWZET	Approved	Small molecular drug	[3]
Hydrocortisone	DMGEMB7	Approved	Small molecular drug	[4]
Methylprednisolone	DM4BDON	Approved	Small molecular drug	[5]
Prednisolone	DMQ8FR2	Approved	Small molecular drug	[6]
Prednisone	DM2HG4X	Approved	Small molecular drug	[7]
Triamcinolone	DM98IXF	Approved	Small molecular drug	[8]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GALNS	TTT9YPO	Limited	Biomarker	[9]
GAST	TT4LRVO	Limited	Biomarker	[9]
RHD	TTLCKI8	Limited	Biomarker	[10]
GAPDH	TTUGSWA	Strong	Biomarker	[11]
GJA5	TTFQKZ7	Strong	Altered Expression	[12]
KCNA5	TTW0CMT	Strong	Altered Expression	[12]
MASP2	TTR01E9	Strong	Genetic Variation	[13]
MBL2	TTMQDZ5	Strong	Genetic Variation	[14]
TLR5	TTCXP8J	Strong	Genetic Variation	[15]
TRPM6	TTV76RD	Strong	Biomarker	[16]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM1	DEA3VM1	Strong	Biomarker	[17]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAGR1	OTXR5PQ8	Limited	Biomarker	[9]
ACTN2	OT9FOLD7	Strong	Altered Expression	[18]
C4A	OTXMOYXU	Strong	Biomarker	[19]
CARTPT	OTTE4V9S	Strong	Genetic Variation	[20]
FCN1	OTK6ZHXH	Strong	Biomarker	[21]
FCN2	OTTHJBKZ	Strong	Genetic Variation	[14]
HLA-DQA2	OT1DH0N9	Strong	Genetic Variation	[22]
HLA-DRB3	OT5PM9N7	Strong	Genetic Variation	[23]
LAIR2	OTKCADXC	Strong	Altered Expression	[24]
MGA	OTTLB216	Strong	Biomarker	[25]
MYOM2	OTD2UOXW	Strong	Biomarker	[26]
PRPF40A	OT6EXJZN	Strong	Biomarker	[27]
RHCE	OTS18IZ5	Strong	Biomarker	[28]

References

• [1] Betamethasone FDA Label
• [2] Cortisone acetate FDA Label
• [3] Dexamethasone FDA Label
• [4] Hydrocortisone FDA Label
• [5] Methylprednisolone FDA Label
• [6] Prednisolone FDA Label
• [7] Prednisone FDA Label
• [8] Triamcinolone FDA Label
• [9] High burden and seasonal variation of paediatric scabies and pyoderma prevalence in The Gambia: A cross-sectional study.PLoS Negl Trop Dis. 2019 Oct 14;13(10):e0007801. doi: 10.1371/journal.pntd.0007801. eCollection 2019 Oct.
• [10] Fetal RHD detection from circulating cell-free fetal DNA in maternal plasma: validation of a diagnostic kit using automatic extraction and frozen DNA.Transfus Med. 2019 Dec;29(6):408-414. doi: 10.1111/tme.12605. Epub 2019 Jun 17.
• [11] Proteomic analysis of mitral valve in Lewis rat with acute rheumatic heart disease.Int J Clin Exp Pathol. 2015 Nov 1;8(11):14151-60. eCollection 2015.
• [12] Association between connexin 40 and potassium voltage-gated channel subfamily A member 5 expression in the atrial myocytes of patients with atrial fibrillation.Exp Ther Med. 2017 Nov;14(5):5170-5176. doi: 10.3892/etm.2017.5129. Epub 2017 Sep 19.
• [13] Association of MASP2 polymorphisms and protein levels with rheumatic fever and rheumatic heart disease.Hum Immunol. 2014 Dec;75(12):1197-202. doi: 10.1016/j.humimm.2014.10.003. Epub 2014 Oct 12.
• [14] MBL2 and FCN2 gene polymorphisms in a cohort of Italian children with rheumatic fever: A case-control study.Semin Arthritis Rheum. 2017 Oct;47(2):264-268. doi: 10.1016/j.semarthrit.2017.04.006. Epub 2017 Apr 27.
• [15] Influence of IL-1, STAT3 & 5 and TLR-5 gene polymorphisms on rheumatic heart disease susceptibility in north Indian population.Int J Cardiol. 2019 Sep 15;291:89-95. doi: 10.1016/j.ijcard.2019.03.035. Epub 2019 Mar 19.
• [16] Increased TRPM6 expression in atrial fibrillation patients contribute to atrial fibrosis.Exp Mol Pathol. 2015 Jun;98(3):486-90. doi: 10.1016/j.yexmp.2015.03.025. Epub 2015 Mar 18.
• [17] Red cell enzyme types in rheumatic diseases.Hum Hered. 1985;35(2):107-10. doi: 10.1159/000153525.
• [18] Increased -Actinin-2 Expression in the Atrial Myocardium of Patients with Atrial Fibrillation Related to Rheumatic Heart Disease.Cardiology. 2016;135(3):151-159. doi: 10.1159/000446362. Epub 2016 Jun 25.
• [19] Increased frequency of the C4A*6 rare allele in rheumatic heart disease.Scand J Rheumatol. 1995;24(3):164-8. doi: 10.3109/03009749509099307.
• [20] Association study of inflammatory genes with rheumatic heart disease in North Indian population: A multi-analytical approach.Immunol Lett. 2016 Jun;174:53-62. doi: 10.1016/j.imlet.2016.04.012. Epub 2016 Apr 23.
• [21] Sickening or Healing the Heart? The Association of Ficolin-1 and Rheumatic Fever.Front Immunol. 2018 Dec 18;9:3009. doi: 10.3389/fimmu.2018.03009. eCollection 2018.
• [22] Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular Mimicry.J Infect Dis. 2017 Dec 12;216(11):1460-1470. doi: 10.1093/infdis/jix497.
• [23] The role of HLA molecules in susceptibility to chronic rheumatic heart disease.Int J Immunogenet. 2006 Feb;33(1):41-4. doi: 10.1111/j.1744-313X.2006.00562.x.
• [24] Development and evaluation of a sandwich ELISA method for the detection of human CD306.J Immunol Methods. 2013 Oct 31;396(1-2):65-73. doi: 10.1016/j.jim.2013.07.013. Epub 2013 Aug 13.
• [25] mga genosensor for early detection of human rheumatic heart disease.Appl Biochem Biotechnol. 2014 May;173(1):228-38. doi: 10.1007/s12010-014-0836-z. Epub 2014 Mar 18.
• [26] Interleukin-10: Role in increasing susceptibility and pathogenesis of rheumatic fever/rheumatic heart disease.Cytokine. 2017 Feb;90:169-176. doi: 10.1016/j.cyto.2016.11.010. Epub 2016 Dec 3.
• [27] The association between mannose-binding lectin gene polymorphism and rheumatic heart disease.Hum Immunol. 2006 Dec;67(12):991-8. doi: 10.1016/j.humimm.2006.08.296. Epub 2006 Oct 9.
• [28] Molecular study of C(w) /C(x) antigens and frequency of Rh phenotypes in southeast Brazilian blood donors.J Clin Lab Anal. 2018 Oct;32(8):e22570. doi: 10.1002/jcla.22570. Epub 2018 Jun 21.