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	periarteritis nodosa

Disease ID	646
Disease	periarteritis nodosa
Definition	A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized ARTERIES, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called CHURG-STRAUSS SYNDROME.
Synonym	classic polyarteritis nodosa classical polyarteritis nodosa kussmaul disease nodosa polyarteritis pan - polyarteritis nodosa panarteritis nodosa polyarteritis nodosa polyarteritis nodosa (disorder) polyarteritis nodosa [disease/finding] polyarteritis nodosa nos polyarteritis nodosa nos (disorder) polyarteritis nodosa systemic polyarteritis nodosum systemic periarteritis nodosa
Orphanet	ORPHANET:767 ORPHANET:439762
DOID	DOID:9810
ICD10	ICD10CM:M30.0
UMLS	C0031036
MeSH	D010488
SNOMED-CT	SNOMEDCT_US_2016_09_01:155441006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:40) C0019158 \| hepatitis \| 7 C0042384 \| vasculitis \| 6 C0019163 \| hepatitis b \| 4 C0019196 \| hepatitis c \| 3 C0035078 \| renal failure \| 3 C0021845 \| intestinal perforation \| 2 C0042769 \| virus infection \| 2 C0022660 \| acute renal failure \| 2 C0010051 \| coronary aneurysms \| 1 C0162529 \| ischemic colitis \| 1 C0019196 \| hepatitis c infection \| 1 C1565489 \| renal insufficiency \| 1 C0007766 \| intracranial aneurysm \| 1 C0032285 \| pneumonia \| 1 C0040558 \| toxoplasmosis \| 1 C0007766 \| cranial aneurysm \| 1 C0007113 \| rectal cancer \| 1 C0026848 \| myopathy \| 1 C0019163 \| hepatitis b infection \| 1 C0027051 \| myocardial infarction \| 1 C0003504 \| aortic regurgitation \| 1 C0031117 \| peripheral neuropathy \| 1 C1328840 \| autoimmune lymphoproliferative syndrome \| 1 C0009319 \| colitis \| 1 C0155626 \| acute myocardial infarction \| 1 C0031069 \| familial mediterranean fever \| 1 C0007570 \| celiac disease \| 1 C0022408 \| arthropathy \| 1 C0085669 \| acute leukemia \| 1 C0025309 \| meningoencephalitis \| 1 C0027707 \| interstitial nephritis \| 1 C0010051 \| coronary aneurysm \| 1 C0442874 \| neuropathy \| 1 C0085642 \| livedo reticularis \| 1 C0002726 \| amyloidosis \| 1 C0010414 \| cryptococcus neoformans \| 1 C0241910 \| autoimmune hepatitis \| 1 C0020428 \| hyperaldosteronism \| 1 C0021845 \| bowel perforation \| 1 C0027051 \| myocardial infarct \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 51816 \| CECR1 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:33) 100 \| ADA \| 3.522 \| DISEASES 959 \| CD40LG \| 3.46 \| DISEASES 51428 \| DDX41 \| 1.373 \| DISEASES 1781 \| DYNC1I2 \| 2.539 \| DISEASES 2086 \| ERV3-1 \| 2.274 \| DISEASES 30816 \| ERVW-1 \| 2.91 \| DISEASES 2157 \| F8 \| 1.017 \| DISEASES 51155 \| HN1 \| 1.082 \| DISEASES 219844 \| HYLS1 \| 1.366 \| DISEASES 3384 \| ICAM2 \| 1.402 \| DISEASES 3440 \| IFNA2 \| 2.678 \| DISEASES 338376 \| IFNE \| 2.313 \| DISEASES 26013 \| L3MBTL1 \| 2.322 \| DISEASES 3920 \| LAMP2 \| 1.908 \| DISEASES 4478 \| MSN \| 1.943 \| DISEASES 4496 \| MT1H \| 2.261 \| DISEASES 5336 \| PLCG2 \| 1.283 \| DISEASES 22999 \| RIMS1 \| 2.299 \| DISEASES 6014 \| RIT2 \| 1.833 \| DISEASES 404552 \| SCGB1D4 \| 1.332 \| DISEASES 6401 \| SELE \| 1.606 \| DISEASES 5265 \| SERPINA1 \| 1.055 \| DISEASES 347734 \| SLC35B2 \| 1.339 \| DISEASES 6525 \| SMTN \| 1.879 \| DISEASES 6709 \| SPTAN1 \| 1.491 \| DISEASES 6818 \| SULT1A3 \| 1.294 \| DISEASES 445329 \| SULT1A4 \| 1.319 \| DISEASES 80312 \| TET1 \| 1.012 \| DISEASES 54790 \| TET2 \| 1.801 \| DISEASES 10333 \| TLR6 \| 1.237 \| DISEASES 54106 \| TLR9 \| 1.107 \| DISEASES 7124 \| TNF \| 1.907 \| DISEASES 7133 \| TNFRSF1B \| 2.861 \| DISEASES
Locus	(Waiting for update.)

Disease ID	646
Disease	periarteritis nodosa
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:34) HP:0002617 \| Aneurysmal dilatation \| 8 HP:0012115 \| Liver inflammation \| 7 HP:0002633 \| Vasculitis \| 6 HP:0000083 \| Renal insufficiency \| 4 HP:0001945 \| Fever \| 4 HP:0001919 \| Acute renal failure \| 3 HP:0003198 \| Myopathic changes \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0200029 \| Cutaneous vasculitis \| 1 HP:0003040 \| Arthropathy \| 1 HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0011741 \| Secondary hyperaldosteronism \| 1 HP:0030171 \| Perirenal hematoma \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0001291 \| Cranial nerve disease \| 1 HP:0001970 \| Interstitial nephritis \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0000709 \| Psychosis \| 1 HP:0000965 \| Livedo reticularis \| 1 HP:0002583 \| Colitis \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002829 \| Arthralgias \| 1 HP:0000859 \| Mineralocorticoid excess \| 1 HP:0005200 \| Retroperitoneal fibrosis \| 1 HP:0002090 \| Pneumonia \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0100762 \| Hemobilia \| 1 HP:0100758 \| Gangrene \| 1 HP:0002608 \| Celiac disease \| 1 HP:0009027 \| Foot drop \| 1

Disease ID	646
Disease	periarteritis nodosa
Manually Symptom	UMLS \| Name(Total Manually Symptoms:65) C2188545 \| anuria C2072946 \| aortic aneurysm C2063730 \| coronary ectasia C1963220 \| pulmonary hypertension C1963138 \| hypertension C1962958 \| hematoma C1855534 \| logic syndrome C1839611 \| n syndrome C0936254 \| polyradiculoneuritis C0796095 \| c syndrome C0752303 \| urological manifestations C0752252 \| neuromuscular manifestations C0549124 \| arterial embolism C0521542 \| brain stem infarct C0474585 \| melena C0442874 \| neuropathy C0410000 \| overlap syndrome C0392175 \| renal hemorrhage C0333101 \| microaneurysms C0277792 \| pathognomonic sign C0267466 \| colonic stenosis C0267395 \| ischemic enteritis C0240035 \| interstitial fibrosis C0238309 \| ischemic neuropathy C0235880 \| mononeuritis C0234962 \| pulmonary vasculitis C0234959 \| panarteritis C0221505 \| cerebral lesions C0221505 \| brain lesions C0152134 \| internuclear ophthalmoplegia C0152025 \| polyneuropathy C0151859 \| polyserositis C0149520 \| acute cholecystitis C0042384 \| angiitis C0041327 \| pulmonary tuberculosis C0041296 \| tuberculosis C0040053 \| thrombosis C0039483 \| giant cell arteritis C0038454 \| stroke C0037285 \| skin manifestations C0037284 \| skin lesions C0032541 \| polyneuritis C0031117 \| peripheral neuropathy C0030354 \| papilloma C0027813 \| peripheral neuritis C0027726 \| nephrotic syndrome C0024115 \| lung diseases C0024115 \| lung disease C0023895 \| hepatic disease C0023480 \| chronic myelomonocytic leukaemia C0022660 \| acute renal failure C0022658 \| nephropathy C0021845 \| intestinal perforations C0019080 \| hemorrhage C0017658 \| glomerulonephritis C0016522 \| patent foramen ovale C0011849 \| diabetes mellitus C0010051 \| coronary aneurysm C0005779 \| coagulopathy C0004096 \| bronchial asthma C0004096 \| asthma C0002940 \| aneurysms C0002940 \| aneurysm C0001622 \| hypercorticism C0000727 \| acute abdomen
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:17) C0042384 \| vasculitis \| 6 C0002940 \| aneurysms \| 4 C0002940 \| aneurysm \| 4 C0035078 \| renal failure \| 3 C0021308 \| infarction \| 3 C0009450 \| infection \| 2 C0022660 \| acute renal failure \| 2 C0021845 \| intestinal perforation \| 2 C0206061 \| interstitial pneumonia \| 1 C0018994 \| haemobilia \| 1 C0031117 \| peripheral neuropathy \| 1 C0162529 \| ischemic colitis \| 1 C0264972 \| hepatic artery aneurysm \| 1 C0035085 \| renal infarction \| 1 C0017086 \| gangrene \| 1 C0442874 \| neuropathy \| 1 C1318520 \| necrotizing vasculitis \| 1

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

Text Mining Genotype(Total 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
rs148936893	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17203564	G	A
rs200930463	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17209538	C	A,G
rs202134424	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17209539	C	A,G,T
rs376785840	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17181904	T	C
rs587777240	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17207287	G	T
rs587777241	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17207277	G	C
rs587777242	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17191773	C	G
rs77563738	NA	51816	CECR1	umls:C0031036	CLINVAR	NA	0.121085767	NA	CECR1	22	17207107	C	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	646
Disease	periarteritis nodosa
Case	(Waiting for update.)

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