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encyclopedia of Rare Disease Annotation for Precision Medicine

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	arteriovenous fistula

Disease ID	1883
Disease	arteriovenous fistula
Definition	An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE.
Synonym	a v fistula a v fistulas a-v fistula arterio-venous fistula arteriovenous aneurysm arteriovenous av fistula arteriovenous fistula (disorder) arteriovenous fistula (morphologic abnormality) arteriovenous fistula [disease/finding] arteriovenous fistulas arteriovenous shunt av - arteriovenous fistula av fistula av fistulas fistula arteriovenous fistula, arteriovenous fistulas arteriovenous fistulas, arteriovenous pathologic arteriovenous fistula pathologic av fistula
Orphanet	ORPHANET:98731
UMLS	C0003855
MeSH	D001164
SNOMED-CT	SNOMEDCT_US_2016_09_01:439470001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:84) C0018801 \| heart failure \| 15 C0040053 \| thrombosis \| 9 C0020538 \| hypertension \| 8 C0037928 \| myelopathy \| 6 C0022658 \| renal disease \| 6 C0018801 \| cardiac failure \| 5 C0039445 \| hereditary hemorrhagic telangiectasia \| 5 C0035078 \| renal failure \| 5 C0010051 \| coronary artery aneurysm \| 5 C0085113 \| neurofibromatosis \| 5 C0022661 \| chronic renal failure \| 4 C0020541 \| portal hypertension \| 4 C0497327 \| dementia \| 4 C0003857 \| arteriovenous malformation \| 3 C0030486 \| paraplegia \| 3 C0019204 \| hepatocellular carcinoma \| 3 C0015464 \| facial palsy \| 3 C0022661 \| end-stage renal disease \| 3 C0022661 \| end stage renal disease \| 3 C0016522 \| patent foramen ovale \| 2 C0026269 \| mitral stenosis \| 2 C0042373 \| vascular disease \| 2 C0034065 \| pulmonary embolism \| 2 C0743039 \| progressive dementia \| 2 C0040053 \| thrombus \| 2 C0018802 \| congestive heart failure \| 2 C1565489 \| renal insufficiency \| 2 C0020305 \| hydrops fetalis \| 1 C0041341 \| tuberous sclerosis \| 1 C0022661 \| chronic kidney failure \| 1 C0175703 \| tar syndrome \| 1 C0011991 \| diarrhea \| 1 C0728890 \| intravascular leiomyomatosis \| 1 C0003486 \| aortic aneurysm \| 1 C0155747 \| splenic artery aneurysm \| 1 C0037061 \| siderosis \| 1 C0861772 \| metastatic rectal cancer \| 1 C0007766 \| intracranial aneurysms \| 1 C0392548 \| cauda equina syndrome \| 1 C0024299 \| lymphoma \| 1 C0007766 \| intracranial aneurysm \| 1 C0242647 \| mucosa-associated lymphoid tissue \| 1 C0549471 \| superior sulcus tumor \| 1 C0018553 \| cowden disease \| 1 C0026975 \| myelitis \| 1 C0035078 \| kidney failure \| 1 C0015300 \| exophthalmos \| 1 C0022661 \| chronic kidney disease \| 1 C0022658 \| kidney disease \| 1 C0015624 \| fanconi syndrome \| 1 C0031154 \| peritonitis \| 1 C0008497 \| choriocarcinoma \| 1 C0005122 \| beriberi \| 1 C0007766 \| cranial aneurysm \| 1 C1535927 \| charge syndrome \| 1 C0003850 \| arteriosclerosis \| 1 C0241961 \| renal angiomyolipoma \| 1 C0264766 \| rheumatic mitral stenosis \| 1 C0155773 \| portal vein thrombosis \| 1 C0023895 \| liver disease \| 1 C0039445 \| rendu-osler-weber disease \| 1 C0700594 \| radiculopathy \| 1 C0242647 \| mucosa-associated lymphoid tissue lymphoma \| 1 C0017601 \| glaucoma \| 1 C0002871 \| anemia \| 1 C0040961 \| tricuspid regurgitation \| 1 C0085096 \| peripheral vascular disease \| 1 C0003504 \| aortic valve regurgitation \| 1 C0023003 \| langer-giedion syndrome \| 1 C0162871 \| abdominal aortic aneurysm \| 1 C0206633 \| angiomyolipoma \| 1 C0038220 \| status epilepticus \| 1 C0003504 \| aortic regurgitation \| 1 C0016522 \| secundum atrial septal defect \| 1 C0007113 \| rectal cancer \| 1 C0039446 \| telangiectasia \| 1 C0034150 \| purpura \| 1 C0029089 \| ophthalmoplegia \| 1 C0206654 \| leiomyomatosis \| 1 C0011849 \| diabetes mellitus \| 1 C0011847 \| diabetes \| 1 C0038531 \| subclavian steal syndrome \| 1 C0022661 \| end stage renal disease (esrd) \| 1 C0020255 \| hydrocephalus \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3162 \| HMOX1 \| CIPHER
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1883
Disease	arteriovenous fistula
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:87) HP:0002617 \| Aneurysmal dilatation \| 43 HP:0001635 \| Congestive heart failure \| 24 HP:0003774 \| End-stage renal failure \| 10 HP:0000822 \| Hypertension \| 8 HP:0000083 \| Renal insufficiency \| 7 HP:0002664 \| Neoplasia \| 7 HP:0002170 \| Intracranial hemorrhage \| 6 HP:0012531 \| Pain \| 6 HP:0002196 \| Myelopathy \| 6 HP:0001297 \| Cerebral vascular events \| 6 HP:0000726 \| Dementia \| 5 HP:0001067 \| Neurofibromas \| 5 HP:0008629 \| Pulsatile tinnitus \| 5 HP:0001409 \| Portal hypertension \| 4 HP:0004936 \| Blood clot in vein \| 4 HP:0012532 \| Chronic pain \| 3 HP:0010550 \| Paraplegia \| 3 HP:0001402 \| Hepatocellular carcinoma \| 3 HP:0002138 \| Subarachnoid hemorrhage \| 3 HP:0012721 \| Venous malformations \| 3 HP:0100026 \| Arteriovenous malformation \| 3 HP:0010628 \| Facial palsy, unilateral or bilateral \| 3 HP:0004942 \| Aortic aneurysm \| 2 HP:0002204 \| Pulmonary embolism \| 2 HP:0001342 \| Intracerebral hemorrhage \| 2 HP:0004953 \| Abdominal aortic aneurysm \| 2 HP:0000790 \| Hematuria \| 2 HP:0001655 \| Patent foramen ovale \| 2 HP:0001631 \| Atria septal defect \| 2 HP:0002315 \| Headaches \| 2 HP:0000360 \| Ringing in the ears \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0100309 \| Subdural hemorrhage \| 2 HP:0000969 \| Dropsy \| 2 HP:0001694 \| Right-to-left shunt \| 2 HP:0001300 \| Parkinsonism \| 2 HP:0000961 \| Cyanosis \| 2 HP:0001718 \| Mitral stenosis \| 2 HP:0030731 \| Carcinoma \| 2 HP:0012481 \| Developmental Venous Anomaly \| 2 HP:0100749 \| Thoracic pain \| 2 HP:0006554 \| Acute hepatic failure \| 1 HP:0000016 \| Urinary retention \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0002039 \| Anorexia \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0002063 \| Muscle rigidity \| 1 HP:0011626 \| Scimitar anomaly \| 1 HP:0012382 \| Left-to-right shunt \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0001903 \| Anemia \| 1 HP:0002875 \| Exertional dyspnea \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000520 \| Anterior bulging of the globe of eye \| 1 HP:0001789 \| Hydrops fetalis \| 1 HP:0000501 \| Glaucoma \| 1 HP:0030713 \| Vein of Galen malformation \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0002014 \| Diarrhea \| 1 HP:0100768 \| Choriocarcinoma \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0001684 \| Secundum atrial septal defect \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0012375 \| Chemosis \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0002318 \| Cervical myelopathy \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0000979 \| Purpura \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0006772 \| Angiomyolipoma \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001945 \| Fever \| 1 HP:0010834 \| Trophic changes \| 1 HP:0030049 \| Brain abscess \| 1 HP:0001399 \| Liver failure \| 1 HP:0002634 \| Arteriosclerosis \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0002586 \| Peritonitis \| 1 HP:0012486 \| Inflammation of spinal cord \| 1 HP:0001009 \| Telangiectases \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1

Disease ID	1883
Disease	arteriovenous fistula
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1466535	23559680	2153	F5	umls:C0003855	BeFree	The hazard ratio (95% confidence interval) of LRP1 rs1466535 was 1.75 (1.15 to 2.66) and patients with factor V Leiden had a hazard ratio of 2.54 (1.41 to 4.56) to develop AVF failure.	0.000271442	2014	LRP1	12	57140687	G	A
rs1466535	23559680	4035	LRP1	umls:C0003855	BeFree	The hazard ratio (95% confidence interval) of LRP1 rs1466535 was 1.75 (1.15 to 2.66) and patients with factor V Leiden had a hazard ratio of 2.54 (1.41 to 4.56) to develop AVF failure.	0.000271442	2014	LRP1	12	57140687	G	A

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	1883
Disease	arteriovenous fistula
Case	(Waiting for update.)

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