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	arteritis, giant cell

Disease ID	872
Disease	arteritis, giant cell
Definition	A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)
Synonym	arteritides, giant cell arteritis cell giant arteritis of the aged arteritis, giant cell, horton arteritis, giant cell, horton's cranial arteritis gca gca - giant cell arteritis giant cell arteritides giant cell arteritis giant cell arteritis (disorder) giant cell arteritis [disease/finding] giant cell arteritis nos giant cell arteritis nos (disorder) giant cell arteritis, horton horton dis horton disease horton giant cell arteritis horton's arteritis horton's disease horton's giant cell arteritis hortons dis hortons disease
Orphanet	ORPHANET:397
OMIM	OMIM:187360 OMIM:607030
DOID	DOID:13375
UMLS	C0039483
MeSH	D013700
SNOMED-CT	SNOMEDCT_US_2016_09_01:414341000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:40) C0042384 \| vasculitis \| 5 C0032533 \| polymyalgia rheumatica \| 5 C0003509 \| aortitis \| 3 C0456909 \| vision loss \| 3 C1956391 \| temporal arteritis \| 3 C0003486 \| aortic aneurysm \| 2 C0028866 \| oculomotor nerve palsy \| 2 C0751711 \| anterior ischemic optic neuropathy \| 2 C0010068 \| coronary artery disease \| 2 C0031039 \| pericardial effusion \| 2 C0029132 \| optic neuropathy \| 2 C0442874 \| neuropathy \| 2 C0019360 \| herpes zoster \| 2 C0019360 \| zoster \| 2 C0032285 \| pneumonia \| 2 C0852949 \| arterial disease \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0028790 \| cerebral artery occlusion \| 1 C0004153 \| atherosclerosis \| 1 C0034065 \| pulmonary embolism \| 1 C0017605 \| angle closure glaucoma \| 1 C0029882 \| otitis media \| 1 C0002395 \| alzheimer's disease \| 1 C0029883 \| otitis media with effusion \| 1 C0032305 \| pneumocystis pneumonia \| 1 C0017601 \| glaucoma \| 1 C0007117 \| basal cell carcinoma \| 1 C0035305 \| retinal detachment \| 1 C0155686 \| acute myocarditis \| 1 C0008049 \| varicella \| 1 C0019364 \| herpes zoster ophthalmicus \| 1 C0012569 \| diplopia \| 1 C0025202 \| melanoma \| 1 C0020877 \| ileitis \| 1 C0154733 \| multiple cranial nerve palsies \| 1 C1704436 \| peripheral arterial disease \| 1 C0154946 \| acute angle closure glaucoma \| 1 C0040028 \| essential thrombocythaemia \| 1 C0032305 \| pneumocystis jiroveci pneumonia \| 1 C0027059 \| myocarditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 26191 \| PTPN22 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) 727 \| C5 \| CIPHER 6352 \| CCL5 \| CIPHER 100133941 \| CD24 \| CIPHER 2212 \| FCGR2A \| CIPHER 2214 \| FCGR3A \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3383 \| ICAM1 \| CIPHER 3458 \| IFNG \| CIPHER 3586 \| IL10 \| CIPHER 3552 \| IL1A \| CIPHER 3565 \| IL4 \| CIPHER 4282 \| MIF \| CIPHER 4318 \| MMP9 \| CIPHER 4790 \| NFKB1 \| CIPHER 4846 \| NOS3 \| CIPHER 6775 \| STAT4 \| CIPHER 7099 \| TLR4 \| CIPHER 7124 \| TNF \| CIPHER 7185 \| TRAF1 \| CIPHER 7422 \| VEGFA \| CIPHER
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	872
Disease	arteritis, giant cell
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:34) HP:0000572 \| Visual loss \| 7 HP:0002633 \| Vasculitis \| 5 HP:0002617 \| Aneurysmal dilatation \| 4 HP:0012089 \| Arteritis \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0002090 \| Pneumonia \| 2 HP:0001289 \| Confusion \| 2 HP:0001677 \| Coronary artery disease \| 2 HP:0004942 \| Aortic aneurysm \| 2 HP:0001698 \| Pericardial effusions \| 2 HP:0001138 \| Damaged optic nerve \| 2 HP:0012246 \| Oculomotor nerve palsy \| 2 HP:0002671 \| Basalioma \| 1 HP:0012735 \| Coughing \| 1 HP:0004950 \| Peripheral artery disease \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0000651 \| Diplopia \| 1 HP:0002861 \| Melanoma \| 1 HP:0002315 \| Headaches \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0000541 \| Detached retina \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0100662 \| Cartilage inflammation \| 1 HP:0005200 \| Retroperitoneal fibrosis \| 1 HP:0100546 \| Narrowing of carotid artery \| 1 HP:0000501 \| Glaucoma \| 1 HP:0000388 \| Otitis media \| 1 HP:0000282 \| Facial puffiness \| 1 HP:0012819 \| Myocarditis \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0001888 \| Lymphocytopenia \| 1

Disease ID	872
Disease	arteritis, giant cell
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:15) C0002940 \| aneurysm \| 4 C0042384 \| vasculitis \| 3 C0003509 \| aortitis \| 3 C1956391 \| temporal arteritis \| 3 C0038454 \| stroke \| 3 C0456909 \| vision loss \| 3 C0155305 \| ischemic optic neuropathy \| 2 C0029132 \| optic neuropathy \| 2 C0751711 \| anterior ischemic optic neuropathy \| 2 C0040053 \| thrombosis \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C1336970 \| visual manifestations \| 1 C0340643 \| aortic dissection \| 1 C0018681 \| headaches \| 1 C0017605 \| angle closure glaucoma \| 1

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

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

All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1059702	24709033	3654	IRAK1	umls:C0039483	BeFree	Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity.	0.000271442	2013	IRAK1	X	154018741	A	G
rs12826786	25476857	100124700	HOTAIR	umls:C0039483	BeFree	These results indicate that functional genotype alteration of rs12826786 SNP may influence the expression of HOTAIR, and HOTAIR may be a useful marker to predict the biological behavior of tumors and potentially a therapeutic target in GCA treatment.	0.000271442	2014	NA	12	53961717	C	T
rs1343151	21285166	149233	IL23R	umls:C0039483	BeFree	Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis.	0.000271442	2011	IL23R	1	67253446	G	A
rs1343151	21285166	3595	IL12RB2	umls:C0039483	BeFree	Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis.	0.000271442	2011	IL23R	1	67253446	G	A
rs17435	24709033	3654	IRAK1	umls:C0039483	BeFree	Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity.	0.000271442	2013	MECP2	X	154046529	T	A
rs1801394	14652285	4552	MTRR	umls:C0039483	BeFree	Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population.	0.000271442	2003	MTRR;FASTKD3	5	7870860	A	G
rs1801394	14652285	4524	MTHFR	umls:C0039483	BeFree	Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population.	0.000814326	2003	MTRR;FASTKD3	5	7870860	A	G
rs1883832	20682661	958	CD40	umls:C0039483	GAD	[Influence of CD40 rs1883832 polymorphism in susceptibility to and clinical manifestations of biopsy-proven giant cell arteritis.]	0.002638474	2010	CD40	20	46118343	T	C
rs1883832	20682661	958	CD40	umls:C0039483	BeFree	Influence of CD40 rs1883832 polymorphism in susceptibility to and clinical manifestations of biopsy-proven giant cell arteritis.	0.002638474	2010	CD40	20	46118343	T	C
rs1979277	17206530	6470	SHMT1	umls:C0039483	BeFree	Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China.	0.000271442	2007	SHMT1	17	18328782	G	A
rs1979277	17206530	4524	MTHFR	umls:C0039483	BeFree	Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China.	0.000814326	2007	SHMT1	17	18328782	G	A
rs2104286	20810507	3559	IL2RA	umls:C0039483	GAD	[Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.]	0.002638474	2010	IL2RA	10	6057082	T	C
rs2104286	20810507	3559	IL2RA	umls:C0039483	BeFree	Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.	0.002638474	2010	IL2RA	10	6057082	T	C
rs2274223	24874112	51196	PLCE1	umls:C0039483	BeFree	In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibility particularly for ESCC and GCA in the Chinese population.	0.001357209	2014	PLCE1	10	94306584	A	G
rs2274223	21689432	51196	PLCE1	umls:C0039483	BeFree	A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibility locus in genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) that share similar risk factors with SCCHN.	0.001357209	2011	PLCE1	10	94306584	A	G
rs2476601	25817017	26191	PTPN22	umls:C0039483	BeFree	In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function.	0.123810118	2015	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	23946333	26191	PTPN22	umls:C0039483	BeFree	Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.	0.123810118	2013	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	25405820	26191	PTPN22	umls:C0039483	BeFree	Although other vasculitides, such as giant cell arteritis (GCA) or immunoglobulin A vasculitis, have not benefitted by the great advantage of the large-scale genetic analyses yet, some interesting associations have been recently suggested, such as the classical functional PTPN22 allele rs2476601 (R620W) with GCA.	0.123810118	2015	PTPN22;AP4B1-AS1	1	113834946	A	G
rs3790567	21285166	3595	IL12RB2	umls:C0039483	BeFree	Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis.	0.000271442	2011	IL12RB2	1	67356694	A	G
rs3790567	21285166	149233	IL23R	umls:C0039483	BeFree	Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis.	0.000271442	2011	IL12RB2	1	67356694	A	G
rs3819024	24893702	3605	IL17A	umls:C0039483	BeFree	These findings indicated that functional polymorphism IL17A rs3819024 A > G might contribute to GCA susceptibility.	0.000814326	2015	IL17A	6	52185988	A	G
rs41322052	26314610	4846	NOS3	umls:C0039483	BeFree	T-786C single nucleotide polymorphism of the endothelial nitric oxide synthase gene as a risk factor for endothelial dysfunction in polymyalgia rheumatica.	0.01099709	2015	NOS3	7	150993018	C	T
rs41322052	26314610	3586	IL10	umls:C0039483	BeFree	We investigated the association of the T-786C single nucleotide polymorphism (SNP) of the endothelial nitric oxide synthase gene (NOS3), which is characterised by reduced expression of the enzyme in response to shear stress or interleukin-10 stimulation and significantly associated with coronary heart disease or rheumatoid arthritis, with the occurrence of isolated polymyalgia rheumatica.	0.011539974	2015	NOS3	7	150993018	C	T
rs4986790	23065292	7099	TLR4	umls:C0039483	BeFree	This meta-analysis demonstrates that the TLR4 Asp299Gly polymorphism may confer susceptibility to GCA.	0.008729747	2013	TLR4	9	117713024	A	G
rs6822844	21269573	3558	IL2	umls:C0039483	BeFree	IL2-IL21 rs6822844 polymorphism does not appear to be a genetic risk factor for susceptibility to biopsy-proven GCA.	0.000271442	2011	NA	4	122588266	G	T
rs6822844	21269573	59067	IL21	umls:C0039483	BeFree	Role of the rs6822844 gene polymorphism at the IL2-IL21 region in biopsy-proven giant cell arteritis.	0.000271442	2011	NA	4	122588266	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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.)

Disease ID	872
Disease	arteritis, giant cell
Case	(Waiting for update.)