PedAM

Pediatric Disease Annotations & Medicines


	rheumatic heart disease

Disease ID	474
Disease	rheumatic heart disease
Definition	Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM.
Synonym	carditis rheumatic disease fever heart rheumatic disease heart rheumatic disease, rheumatic heart diseases, rheumatic heart fever rheumatic heart disease heart disease rheumatic fever heart disease rheumatoid heart disease, rheumatic heart diseases, rheumatic rhd rheumatic carditis rheumatic carditis (disorder) rheumatic carditis, nos rheumatic heart dis rheumatic heart dis nos rheumatic heart disease (disorder) rheumatic heart disease [disease/finding] rheumatic heart disease nos rheumatic heart disease nos (disorder) rheumatic heart disease unspecified rheumatic heart disease unspecified (disorder) rheumatic heart disease, nos rheumatic heart disease, unspecified rheumatic heart diseases rheumatic pancarditis rheumatoid heart disease
OMIM	OMIM:111680
DOID	DOID:9814
ICD10	ICD10CM:I09.9
UMLS	C0035439
MeSH	D012214
SNOMED-CT	SNOMEDCT_US_2016_09_01:23685000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:30) C0026269 \| mitral stenosis \| 6 C0035436 \| rheumatic fever \| 5 C0018801 \| heart failure \| 4 C0014121 \| infective endocarditis \| 4 C0014118 \| endocarditis \| 4 C0035436 \| acute rheumatic fever \| 3 C0040961 \| tricuspid regurgitation \| 2 C0003504 \| aortic insufficiency \| 2 C0020538 \| hypertension \| 2 C0018799 \| heart disease \| 2 C0026266 \| mitral valve regurgitation \| 2 C0020542 \| pulmonary hypertension \| 2 C0878544 \| cardiomyopathy \| 1 C0002726 \| amyloidosis \| 1 C0027059 \| myocarditis \| 1 C0152113 \| sydenham's chorea \| 1 C0040053 \| thrombus \| 1 C0040961 \| tricuspid insufficiency \| 1 C1744558 \| t-cell deficiency \| 1 C0026269 \| mitral valve stenosis \| 1 C0026266 \| mitral regurgitation \| 1 C0020807 \| pulmonary hemosiderosis \| 1 C0034063 \| pulmonary oedema \| 1 C0028754 \| obesity \| 1 C0729771 \| throat infection \| 1 C0017551 \| gilbert's syndrome \| 1 C0152021 \| congenital heart disease \| 1 C0003504 \| aortic regurgitation \| 1 C0019114 \| hemosiderosis \| 1 C0022116 \| ischaemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) RHD \| 6007 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) 1636 \| ACE \| infer 183 \| AGT \| infer 185 \| AGTR1 \| infer 727 \| C5 \| infer 3105 \| HLA-A \| infer 3106 \| HLA-B \| infer 3107 \| HLA-C \| infer 3117 \| HLA-DQA1 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 3125 \| HLA-DRB3 \| infer 3127 \| HLA-DRB5 \| infer 3586 \| IL10 \| infer 3553 \| IL1B \| infer 3557 \| IL1RN \| infer 3565 \| IL4 \| infer 4153 \| MBL2 \| infer 7040 \| TGFB1 \| infer 7097 \| TLR2 \| infer 7099 \| TLR4 \| infer 7124 \| TNF \| infer 7128 \| TNFAIP3 \| infer 7185 \| TRAF1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:136) 4706 \| NDUFAB1 \| DISEASES 84245 \| MRI1 \| DISEASES 4335 \| MNT \| DISEASES 7076 \| TIMP1 \| DISEASES 4210 \| MEFV \| DISEASES 1445 \| CSK \| DISEASES 8797 \| TNFRSF10A \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 9545 \| RAB3D \| DISEASES 6346 \| CCL1 \| DISEASES 3558 \| IL2 \| DISEASES 2597 \| GAPDH \| DISEASES 3565 \| IL4 \| DISEASES 56920 \| SEMA3G \| DISEASES 5948 \| RBP2 \| DISEASES 374291 \| NDUFS7 \| DISEASES 6431 \| SRSF6 \| DISEASES 140628 \| GATA5 \| DISEASES 47 \| ACLY \| DISEASES 182 \| JAG1 \| DISEASES 1401 \| CRP \| DISEASES 9883 \| POM121 \| DISEASES 3569 \| IL6 \| DISEASES 7097 \| TLR2 \| DISEASES 1559 \| CYP2C9 \| DISEASES 4069 \| LYZ \| DISEASES 11019 \| LIAS \| DISEASES 9172 \| MYOM2 \| DISEASES 3249 \| HPN \| DISEASES 7077 \| TIMP2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 55717 \| WDR11 \| DISEASES 5443 \| POMC \| DISEASES 7375 \| USP4 \| DISEASES 7078 \| TIMP3 \| DISEASES 775 \| CACNA1C \| DISEASES 4060 \| LUM \| DISEASES 7168 \| TPM1 \| DISEASES 1039 \| CDR2 \| DISEASES 6687 \| SPG7 \| DISEASES 2627 \| GATA6 \| DISEASES 8547 \| FCN3 \| DISEASES 2702 \| GJA5 \| DISEASES 375 \| ARF1 \| DISEASES 5972 \| REN \| DISEASES 166378 \| SPATA5 \| DISEASES 6567 \| SLC16A2 \| DISEASES 8853 \| ASAP2 \| DISEASES 1360 \| CPB1 \| DISEASES 27163 \| NAAA \| DISEASES 7079 \| TIMP4 \| DISEASES 4091 \| SMAD6 \| DISEASES 1636 \| ACE \| DISEASES 2220 \| FCN2 \| DISEASES 7412 \| VCAM1 \| DISEASES 213 \| ALB \| DISEASES 2921 \| CXCL3 \| DISEASES 5473 \| PPBP \| DISEASES 27242 \| TNFRSF21 \| DISEASES 23588 \| KLHDC2 \| DISEASES 123169 \| LEO1 \| DISEASES 2923 \| PDIA3 \| DISEASES 3904 \| LAIR2 \| DISEASES 4909 \| NTF4 \| DISEASES 116285 \| ACSM1 \| DISEASES 1493 \| CTLA4 \| DISEASES 8862 \| APLN \| DISEASES 2525 \| FUT3 \| DISEASES 2147 \| F2 \| DISEASES 29127 \| RACGAP1 \| DISEASES 23621 \| BACE1 \| DISEASES 3752 \| KCND3 \| DISEASES 137814 \| NKX2-6 \| DISEASES 5345 \| SERPINF2 \| DISEASES 4312 \| MMP1 \| DISEASES 5034 \| P4HB \| DISEASES 8651 \| SOCS1 \| DISEASES 926 \| CD8B \| DISEASES 2152 \| F3 \| DISEASES 78989 \| COLEC11 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 7137 \| TNNI3 \| DISEASES 5549 \| PRELP \| DISEASES 25797 \| QPCT \| DISEASES 79971 \| WLS \| DISEASES 6904 \| TBCD \| DISEASES 26191 \| PTPN22 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 140803 \| TRPM6 \| DISEASES 4283 \| CXCL9 \| DISEASES 7139 \| TNNT2 \| DISEASES 462 \| SERPINC1 \| DISEASES 1490 \| CTGF \| DISEASES 23443 \| SLC35A3 \| DISEASES 1810 \| DR1 \| DISEASES 959 \| CD40LG \| DISEASES 5236 \| PGM1 \| DISEASES 9124 \| PDLIM1 \| DISEASES 2219 \| FCN1 \| DISEASES 7185 \| TRAF1 \| DISEASES 4153 \| MBL2 \| DISEASES 1896 \| EDA \| DISEASES 1290 \| COL5A2 \| DISEASES 3118 \| HLA-DQA2 \| DISEASES 3127 \| HLA-DRB5 \| DISEASES 3105 \| HLA-A \| DISEASES 8718 \| TNFRSF25 \| DISEASES 2098 \| ESD \| DISEASES 3559 \| IL2RA \| DISEASES 415 \| ARSE \| DISEASES 83650 \| SLC35G5 \| DISEASES 3903 \| LAIR1 \| DISEASES 27032 \| ATP2C1 \| DISEASES 782 \| CACNB1 \| DISEASES 79001 \| VKORC1 \| DISEASES 831 \| CAST \| DISEASES 7702 \| ZNF143 \| DISEASES 10747 \| MASP2 \| DISEASES 3778 \| KCNMA1 \| DISEASES 55660 \| PRPF40A \| DISEASES 10989 \| IMMT \| DISEASES 1029 \| CDKN2A \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 1154 \| CISH \| DISEASES 3586 \| IL10 \| DISEASES 54475 \| NLE1 \| DISEASES 5682 \| PSMA1 \| DISEASES 8801 \| SUCLG2 \| DISEASES 30819 \| KCNIP2 \| DISEASES 9791 \| PTDSS1 \| DISEASES 3250 \| HPR \| DISEASES 3987 \| LIMS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	474
Disease	rheumatic heart disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:30) HP:0005110 \| Atrial fibrillation \| 11 HP:0001718 \| Mitral stenosis \| 7 HP:0001635 \| Congestive heart failure \| 4 HP:0100584 \| Endocarditis \| 3 HP:0006689 \| Bacterial endocarditis \| 3 HP:0001653 \| Mitral valve insufficiency \| 3 HP:0005180 \| Tricuspid insufficiency \| 3 HP:0001945 \| Fever \| 3 HP:0000822 \| Hypertension \| 2 HP:0001659 \| Aortic insufficiency \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0001631 \| Atria septal defect \| 1 HP:0011568 \| Double orifice mitral valve \| 1 HP:0001513 \| Obesity \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0004754 \| Permanent atrial fibrillation \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0012531 \| Pain \| 1 HP:0012819 \| Myocarditis \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0001917 \| Renal amyloidosis \| 1 HP:0002072 \| Chorea \| 1 HP:0000969 \| Dropsy \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	474
Disease	rheumatic heart disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:13) C0232197 \| fibrillation \| 9 C0232605 \| regurgitation \| 6 C0026269 \| mitral stenosis \| 6 C0018801 \| heart failure \| 4 C0035436 \| rheumatic fever \| 4 C0015967 \| fever \| 3 C0020538 \| hypertension \| 2 C0020542 \| pulmonary hypertension \| 2 C0741299 \| atrial thrombus \| 1 C0026266 \| mitral regurgitation \| 1 C0003504 \| aortic regurgitation \| 1 C0020807 \| pulmonary hemosiderosis \| 1 C0019114 \| hemosiderosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121917864	17096074	7097	TLR2	umls:C0035439	BeFree	The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorphisms with rheumatic heart disease.	0.000542884	2007	TLR2	4	153704936	C	T
rs2476601	21384170	26191	PTPN22	umls:C0035439	BeFree	No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus.	0.000542884	2011	PTPN22;AP4B1-AS1	1	113834946	A	G
rs5743708	19693643	7097	TLR2	umls:C0035439	BeFree	No association of the TLR2 gene Arg753Gln polymorphism with rheumatic heart disease and Behçet's disease.	0.000542884	2009	TLR2	4	153705165	G	A
rs5743708	17096074	7097	TLR2	umls:C0035439	BeFree	The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorphisms with rheumatic heart disease.	0.000542884	2007	TLR2	4	153705165	G	A

GWASdb Annotation(Total Genotypes:1)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
1	25623967	rs1830962	NM_016124,RHD	NM_001127691,RHD	ENST00000423810,ENSG00000187010	ENST00000454452,ENSG00000187010	ENST00000419831,ENSG00000187010	ENST00000417538,ENSG00000187010	ENST00000342055,ENSG00000187010	ENST00000328664,ENSG00000187010	ENST00000357542,ENSG00000187010	ENST00000423253,ENSG00000187010	NA	NA	chr1,25620001,25630000,chr1,24940001,24950000,26,Hi-C	chr1,25620001,25630000,chr1,26800001,26810000,28,Hi-C	chr1,25620001,25630000,chr6,13850001,13860000,32,Hi-C	chr1,25620001,25630000,chr7,75520001,75530000,32,Hi-C	chr1,25620001,25630000,chr1,25840001,25850000,38,Hi-C	chr1,25620001,25630000,chr14,91530001,91540000,41,Hi-C	chr1,25620001,25630000,chr1,39520001,39530000,43,Hi-C	chr1,25620001,25630000,chr7,23360001,23370000,57,Hi-C	chr1,25620001,25630000,chr9,110850001,110860000,5,Hi-C	chr1,25620001,25630000,chr12,110700001,110710000,5,Hi-C	chr1,25620001,25630000,chr1,38860001,38870000,6,Hi-C	chr1,25620001,25630000,chr4,71170001,71180000,9,Hi-C	chr1,25620001,25630000,chr1,25530001,25540000,6,Hi-C	chr1,25620001,25630000,chr1,84750001,84760000,6,Hi-C	chr1,25620001,25630000,chr1,6300001,6310000,10,Hi-C	chr1,25620001,25630000,chr1,151620001,151630000,18,Hi-C	chr1,25620001,25630000,chr1,25720001,25730000,32,Hi-C	NA	Cutl1_3494,22.9811	Cutl1_3494,203.113	Cutl1_3494,1.8036	Cutl1_3494,1.3934	Cutl1_3494,3.5869

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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