PedAM

Pediatric Disease Annotations & Medicines


	takayasu arteritis

Disease ID	475
Disease	takayasu arteritis
Definition	A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy.
Synonym	(aortic arch arteritis) or (takayasu's disease[& pulseless]) (aortic arch arteritis) or (takayasu's disease[& pulseless]) (disorder) acquired aortoarteritis aortic arch arteritis arteritides, young female arteritis takayasu arteritis takayasu's arteritis takayasus's arteritis, takayasu arteritis, takayasu's arteritis, takayasus arteritis, young female atypical coarctation brachiocephalic ischemia disease, takayasu female arteritides, young female arteritis, young idiopathic medial aortopathy and arteriopathy martorell syndrome middle aortic syndrome nonspecific aortoarteritis nonspecific arteritis occlusive thromboarteriopathy primary arteritis pulseless dis pulseless disease raeder-harbitz syndrome reverse coarctation sclerosing aortitis and arteritis takayasu arteriopathy takayasu arteritis [disease/finding] takayasu disease takayasu syndrome takayasu's arteriopathy takayasu's arteritis takayasu's disease takayasu's disease (disorder) takayasu's disease [ambiguous] takayasus arteritis young female arteritides young female arteritis
Orphanet	ORPHANET:3287
OMIM	OMIM:207600
DOID	DOID:2508
UMLS	C0039263
MeSH	D013625
SNOMED-CT	SNOMEDCT_US_2016_09_01:359789008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:93) C0020538 \| hypertension \| 14 C0009324 \| ulcerative colitis \| 6 C0010346 \| crohn's disease \| 5 C0020545 \| renovascular hypertension \| 5 C0042384 \| vasculitis \| 5 C0020538 \| vascular hypertension \| 5 C0009319 \| colitis \| 4 C0003486 \| aortic aneurysm \| 4 C0041296 \| tuberculosis \| 4 C0039263 \| middle aortic syndrome \| 3 C0003504 \| aortic regurgitation \| 3 C0043092 \| wegener granulomatosis \| 3 C0022116 \| ischemia \| 3 C0162872 \| thoracic aortic aneurysm \| 2 C0409974 \| lupus erythematosus \| 2 C0018801 \| heart failure \| 2 C0029132 \| optic neuropathy \| 2 C0442874 \| neuropathy \| 2 C0035078 \| renal failure \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0003493 \| aortic disease \| 2 C0003509 \| aortitis \| 2 C0031069 \| familial mediterranean fever \| 2 C0162871 \| abdominal aortic aneurysm \| 2 C0027051 \| myocardial infarct \| 1 C0751498 \| sigmoid cancer \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0010051 \| coronary aneurysm \| 1 C0949690 \| spondylarthritis \| 1 C0917996 \| cerebral aneurysm \| 1 C0021390 \| inflammatory bowel disease \| 1 C0011570 \| depression \| 1 C0751711 \| anterior ischemic optic neuropathy \| 1 C0032453 \| relapsing polychondritis \| 1 C0027059 \| myocarditis \| 1 C0007282 \| carotid stenosis \| 1 C0035435 \| rheumatism \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0020542 \| pulmonary hypertension \| 1 C0026691 \| kawasaki disease \| 1 C0085113 \| neurofibromatosis \| 1 C0009447 \| common variable immunodeficiency \| 1 C0010346 \| crohn disease \| 1 C0154832 \| coats disease \| 1 C0039483 \| horton's disease \| 1 C0039128 \| syphilis \| 1 C0010051 \| coronary aneurysms \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0016052 \| fibromuscular dysplasia \| 1 C0338585 \| carotid artery dissection \| 1 C0684249 \| lung carcinoma \| 1 C0007787 \| transient ischaemic attack \| 1 C0038013 \| ankylosing spondylitis \| 1 C0007786 \| brain ischemia \| 1 C0029456 \| osteoporosis \| 1 C0031111 \| periostitis \| 1 C0039263 \| takayasu arteritis \| 1 C0038531 \| subclavian steal syndrome \| 1 C1327709 \| rectosigmoid cancer \| 1 C0027051 \| myocardial infarction \| 1 C0034212 \| pyoderma \| 1 C0242231 \| coronary artery stenosis \| 1 C0151332 \| active tuberculosis \| 1 C0003507 \| aortic stenosis \| 1 C0021053 \| immune disease \| 1 C0038012 \| spondylitis \| 1 C0021831 \| bowel disease \| 1 C0007785 \| cerebral ischemia \| 1 C0026654 \| moyamoya disease \| 1 C0003507 \| valvular aortic stenosis \| 1 C0031046 \| pericarditis \| 1 C0010051 \| coronary artery aneurysm \| 1 C0022658 \| kidney disease \| 1 C0010068 \| coronary artery disease \| 1 C0042373 \| vascular disease \| 1 C0002871 \| anemia \| 1 C0006267 \| bronchiectasis \| 1 C0038013 \| ankylosing spondylarthritis \| 1 C0003873 \| rheumatoid arthritis \| 1 C0017665 \| membranous glomerulonephropathy \| 1 C0948265 \| metabolic syndrome \| 1 C0003467 \| anxiety \| 1 C0007282 \| carotid artery stenosis \| 1 C0026654 \| moyamoya \| 1 C0152113 \| sydenham's chorea \| 1 C0020538 \| systemic hypertension \| 1 C0018799 \| heart disease \| 1 C0003504 \| aortic insufficiency \| 1 C0017658 \| glomerulonephritis \| 1 C0031099 \| periodontitis \| 1 C0016053 \| fibromyalgia \| 1 C0003499 \| supravalvular aortic stenosis \| 1 C0003504 \| aortic valve regurgitation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) NOS2 \| 4843 \| CTD_human HLA-B \| 3106 \| ORPHANET IL12B \| 3593 \| ORPHANET MLX \| 6945 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 3123 \| HLA-DRB1 \| infer 26191 \| PTPN22 \| infer 3592 \| IL12A \| infer 3558 \| IL2 \| infer 3569 \| IL6 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:107) 4313 \| MMP2 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 333 \| APLP1 \| DISEASES 973 \| CD79A \| DISEASES 5444 \| PON1 \| DISEASES 944 \| TNFSF8 \| DISEASES 59 \| ACTA2 \| DISEASES 4353 \| MPO \| DISEASES 3558 \| IL2 \| DISEASES 3111 \| HLA-DOA \| DISEASES 29959 \| NRBP1 \| DISEASES 5657 \| PRTN3 \| DISEASES 2023 \| ENO1 \| DISEASES 27230 \| SERP1 \| DISEASES 6431 \| SRSF6 \| DISEASES 11025 \| LILRB3 \| DISEASES 8744 \| TNFSF9 \| DISEASES 6945 \| MLX \| DISEASES 968 \| CD68 \| DISEASES 11026 \| LILRA3 \| DISEASES 4277 \| MICB \| DISEASES 60678 \| EEFSEC \| DISEASES 1401 \| CRP \| DISEASES 55303 \| GIMAP4 \| DISEASES 3569 \| IL6 \| DISEASES 640 \| BLK \| DISEASES 10017 \| BCL2L10 \| DISEASES 4069 \| LYZ \| DISEASES 7450 \| VWF \| DISEASES 3595 \| IL12RB2 \| DISEASES 51816 \| CECR1 \| DISEASES 3553 \| IL1B \| DISEASES 2817 \| GPC1 \| DISEASES 5496 \| PPM1G \| DISEASES 3383 \| ICAM1 \| DISEASES 2121 \| EVC \| DISEASES 2212 \| FCGR2A \| DISEASES 5972 \| REN \| DISEASES 319100 \| TAAR6 \| DISEASES 123803 \| NTAN1 \| DISEASES 22808 \| MRAS \| DISEASES 162417 \| NAGS \| DISEASES 7412 \| VCAM1 \| DISEASES 51752 \| ERAP1 \| DISEASES 27242 \| TNFRSF21 \| DISEASES 9150 \| CTDP1 \| DISEASES 4314 \| MMP3 \| DISEASES 27043 \| PELP1 \| DISEASES 6203 \| RPS9 \| DISEASES 375611 \| SLC26A5 \| DISEASES 440533 \| PSG8 \| DISEASES 7532 \| YWHAG \| DISEASES 56246 \| MRAP \| DISEASES 54205 \| CYCS \| DISEASES 572 \| BAD \| DISEASES 8302 \| KLRC4 \| DISEASES 22864 \| R3HDM2 \| DISEASES 6401 \| SELE \| DISEASES 2152 \| F3 \| DISEASES 23583 \| SMUG1 \| DISEASES 445329 \| SULT1A4 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 3329 \| HSPD1 \| DISEASES 7100 \| TLR5 \| DISEASES 84639 \| IL1F10 \| DISEASES 6818 \| SULT1A3 \| DISEASES 3605 \| IL17A \| DISEASES 57556 \| SEMA6A \| DISEASES 6133 \| RPL9 \| DISEASES 6189 \| RPS3A \| DISEASES 26191 \| PTPN22 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 170482 \| CLEC4C \| DISEASES 6993 \| DYNLT1 \| DISEASES 462 \| SERPINC1 \| DISEASES 2214 \| FCGR3A \| DISEASES 4720 \| NDUFS2 \| DISEASES 134701 \| RIPPLY2 \| DISEASES 959 \| CD40LG \| DISEASES 4318 \| MMP9 \| DISEASES 1025 \| CDK9 \| DISEASES 4795 \| NFKBIL1 \| DISEASES 100507436 \| MICA \| DISEASES 7133 \| TNFRSF1B \| DISEASES 3105 \| HLA-A \| DISEASES 7056 \| THBD \| DISEASES 51182 \| HSPA14 \| DISEASES 1906 \| EDN1 \| DISEASES 339965 \| CCDC158 \| DISEASES 5627 \| PROS1 \| DISEASES 3122 \| HLA-DRA \| DISEASES 79168 \| LILRA6 \| DISEASES 56138 \| PCDHA11 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 6160 \| RPL31 \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 3113 \| HLA-DPA1 \| DISEASES 720 \| C4A \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 3594 \| IL12RB1 \| DISEASES 4049 \| LTA \| DISEASES 91833 \| WDR20 \| DISEASES 3115 \| HLA-DPB1 \| DISEASES 3586 \| IL10 \| DISEASES 3831 \| KLC1 \| DISEASES 22999 \| RIMS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	475
Disease	takayasu arteritis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:39) HP:0004372 \| Reduced consciousness/confusion HP:0002829 \| Arthralgia HP:0001824 \| Weight loss HP:0001324 \| Muscle weakness HP:0002092 \| Pulmonary arterial hypertension HP:0002617 \| Aneurysm HP:0100545 \| Arterial stenosis HP:0002637 \| Cerebral ischemia HP:0003326 \| Myalgia HP:0000488 \| Retinopathy HP:0001945 \| Fever HP:0002793 \| Abnormal pattern of respiration HP:0100576 \| Amaurosis fugax HP:0000822 \| Hypertension HP:0100533 \| Inflammatory abnormality of the eye HP:0005111 \| Dilatation of the ascending aorta HP:0001250 \| Seizures HP:0001654 \| Abnormality of the heart valves HP:0100758 \| Gangrene HP:0100735 \| Hypertensive crisis HP:0002105 \| Hemoptysis HP:0200042 \| Skin ulcer HP:0100749 \| Chest pain HP:0012378 \| Fatigue HP:0002633 \| Vasculitis HP:0000975 \| Hyperhidrosis HP:0012089 \| Arteritis HP:0002167 \| Neurological speech impairment HP:0001369 \| Arthritis HP:0004306 \| Abnormality of the endocardium HP:0005244 \| Gastrointestinal infarctions HP:0001903 \| Anemia HP:0001646 \| Abnormality of the aortic valve HP:0001658 \| Myocardial infarction HP:0012649 \| Increased inflammatory response HP:0002039 \| Anorexia HP:0001482 \| Subcutaneous nodule HP:0001639 \| Hypertrophic cardiomyopathy HP:0002076 \| Migraine
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:65) HP:0002617 \| Aneurysmal dilatation \| 11 HP:0000822 \| Hypertension \| 11 HP:0100279 \| Ulcerative colitis \| 5 HP:0100817 \| Renovascular hypertension \| 5 HP:0002633 \| Vasculitis \| 5 HP:0100280 \| Morbus Crohn \| 5 HP:0001297 \| Cerebral vascular events \| 5 HP:0001659 \| Aortic insufficiency \| 5 HP:0004942 \| Aortic aneurysm \| 4 HP:0002583 \| Colitis \| 3 HP:0001920 \| Renal artery stenosis \| 3 HP:0002955 \| Granulomatosis \| 3 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0001635 \| Congestive heart failure \| 2 HP:0100546 \| Narrowing of carotid artery \| 2 HP:0012727 \| Thoracic aortic aneurysm \| 2 HP:0000572 \| Visual loss \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0004415 \| Pulmonary artery stenosis \| 2 HP:0001138 \| Damaged optic nerve \| 2 HP:0002138 \| Subarachnoid hemorrhage \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0004953 \| Abdominal aortic aneurysm \| 2 HP:0002647 \| Aortic dissection \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0005200 \| Retroperitoneal fibrosis \| 1 HP:0002616 \| Aortic root dilatation \| 1 HP:0003146 \| Decreased circulating cholesterol level \| 1 HP:0040165 \| Periostitis \| 1 HP:0012474 \| Obstructed carotid artery \| 1 HP:0000999 \| Pyoderma \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0001701 \| Pericarditis \| 1 HP:0002315 \| Headaches \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0002321 \| Vertigo \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0030731 \| Carcinoma \| 1 HP:0012158 \| Carotid artery dissection \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0012819 \| Myocarditis \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0030907 \| Thunderclap headache \| 1 HP:0003326 \| Muscle pain \| 1 HP:0011944 \| Small vessel vasculitis \| 1 HP:0002326 \| TIA \| 1 HP:0005310 \| Large vessel vasculitis \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0011934 \| Mesenteric artery aneurysm \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0012159 \| Internal carotid artery dissection \| 1 HP:0004381 \| Supravalvular aortic stenosis \| 1 HP:0012089 \| Arteritis \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0000716 \| Depression \| 1 HP:0001279 \| Syncope \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0002637 \| Brain ischemia \| 1 HP:0000739 \| Anxiety \| 1 HP:0100859 \| Superior mesenteric artery aneurysm \| 1 HP:0040264 \| Jaw pain \| 1 HP:0001903 \| Anemia \| 1 HP:0005145 \| Narrowing of coronary artery \| 1

Disease ID	475
Disease	takayasu arteritis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:28) C0009814 \| stenosis \| 11 C0020538 \| hypertension \| 11 C0002940 \| aneurysm \| 8 C0020545 \| renovascular hypertension \| 4 C0010346 \| crohn's disease \| 4 C0009324 \| ulcerative colitis \| 4 C0003504 \| aortic regurgitation \| 3 C0022116 \| ischemia \| 2 C0042384 \| vasculitis \| 2 C0856760 \| bilateral renal artery stenosis \| 2 C0019080 \| hemorrhage \| 1 C0948089 \| acute coronary syndrome \| 1 C0038531 \| subclavian steal syndrome \| 1 C0038449 \| artery stenosis \| 1 C0340643 \| aortic dissection \| 1 C1393529 \| vascular complications \| 1 C0010051 \| coronary artery aneurysm \| 1 C0917996 \| cerebral aneurysms \| 1 C0038531 \| subclavian stenosis \| 1 C0003504 \| aortic valve regurgitation \| 1 C0041296 \| tuberculosis \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0007786 \| brain ischemia \| 1 C1402315 \| vascular lesions \| 1 C0242231 \| coronary artery stenosis \| 1 C0751531 \| subclavian steal \| 1 C0003504 \| aortic insufficiency \| 1 C0031111 \| periostitis \| 1

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104895476	22821420	64127	NOD2	umls:C0039263	BeFree	A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?	0.000542884	2012	NOD2	16	50711057	C	G,T
rs11666543	25604533	6203	RPS9	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.000271442	2015	RPS9	19	54208113	A	G
rs11666543	25604533	3569	IL6	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.002638474	2015	RPS9	19	54208113	A	G
rs2069837	25604533	3569	IL6	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.002638474	2015	IL6;LOC541472	7	22728408	A	G
rs2069837	25604533	6203	RPS9	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.000271442	2015	IL6;LOC541472	7	22728408	A	G
rs2836878	25604533	3569	IL6	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.002638474	2015	NA	21	39093608	G	A
rs2836878	25604533	6203	RPS9	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.000271442	2015	NA	21	39093608	G	A
rs56167332	23830517	3593	IL12B	umls:C0039263	BeFree	We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)).	0.121085767	2013	NA	5	159400761	C	A

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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