PedAM

Pediatric Disease Annotations & Medicines


	arteriovenous malformation

Disease ID	842
Disease	arteriovenous malformation
Definition	Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.
Synonym	a v malformation a v malformations a-v malformation anomalies arteriovenous arteriovenous anomaly arteriovenous malformation (morphologic abnormality) arteriovenous malformation, nos arteriovenous malformation, unspecified arteriovenous malformations arteriovenous malformations [disease/finding] av - congenital arteriovenous anomaly av - congenital arteriovenous malformation av malformation av malformations avm avm - congenital arteriovenous malformation congenital arteriovenous malformation congenital arteriovenous malformation (disorder) malformation, arteriovenous malformations, arteriovenous
Orphanet	ORPHANET:211266
DOID	DOID:11294
UMLS	C0003857
MeSH	D001165
SNOMED-CT	SNOMEDCT_US_2016_09_01:234141001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:81) C0039445 \| hereditary hemorrhagic telangiectasia \| 25 C0039446 \| telangiectasia \| 7 C0039445 \| hereditary haemorrhagic telangiectasia \| 7 C0040997 \| trigeminal neuralgia \| 3 C0018799 \| heart disease \| 3 C0030305 \| pancreatitis \| 3 C0039445 \| rendu-osler-weber syndrome \| 3 C0039445 \| osler-weber-rendu syndrome \| 3 C0152021 \| congenital heart disease \| 3 C0162529 \| ischemic colitis \| 3 C0917996 \| cerebral aneurysm \| 3 C0018916 \| hemangioma \| 2 C0007766 \| cranial aneurysm \| 2 C0026654 \| moyamoya \| 2 C0020542 \| pulmonary hypertension \| 2 C0039445 \| rendu-osler-weber disease \| 2 C0002170 \| alopecia \| 2 C0001339 \| acute pancreatitis \| 2 C0020538 \| hypertension \| 2 C0026654 \| moyamoya disease \| 2 C0014544 \| epileptic seizure \| 2 C0018801 \| heart failure \| 2 C0007766 \| intracranial aneurysms \| 2 C0007766 \| intracranial aneurysm \| 2 C0040137 \| thyroid nodule \| 1 C0009782 \| connective tissue disorder \| 1 C0032000 \| pituitary adenoma \| 1 C0018916 \| angioma \| 1 C0032461 \| polycythemia \| 1 C0456909 \| vision loss \| 1 C0014544 \| epileptic seizures \| 1 C0042373 \| angiopathy \| 1 C0549423 \| obstructive hydrocephalus \| 1 C0042790 \| vision disorders \| 1 C0151740 \| intracranial hypertension \| 1 C0040053 \| thrombosis \| 1 C0018802 \| congestive heart failure \| 1 C0036202 \| sarcoidosis \| 1 C0009319 \| colitis \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0014544 \| epilepsies \| 1 C0854486 \| functioning pituitary adenoma \| 1 C0162316 \| iron deficiency anemia \| 1 C0022116 \| ischemia \| 1 C0023267 \| leiomyoma \| 1 C0035328 \| retinal vein occlusion \| 1 C0018799 \| heart diseases \| 1 C0020255 \| hydrocephalus \| 1 C0155773 \| portal vein thrombosis \| 1 C0280783 \| juvenile pilocytic astrocytoma \| 1 C0021843 \| intestinal obstruction \| 1 C0032987 \| ectopic pregnancy \| 1 C0041182 \| trophoblastic tumor \| 1 C0085220 \| cerebral amyloid angiopathy \| 1 C0034069 \| pulmonary fibrosis \| 1 C0036454 \| visual field loss \| 1 C0007787 \| transient ischaemic attack \| 1 C0021933 \| intussusception \| 1 C0149931 \| migraine \| 1 C0242647 \| malt lymphoma \| 1 C0002871 \| anemia \| 1 C0751955 \| brain infarct \| 1 C0018922 \| hemangiopericytoma \| 1 C0004114 \| astrocytoma \| 1 C0015464 \| facial palsy \| 1 C0020678 \| hypotrichosis \| 1 C0014859 \| esophageal cancer \| 1 C0265965 \| dyskeratosis congenita \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0032463 \| polycythemia vera \| 1 C0023801 \| lipomatosis \| 1 C0007787 \| transient ischemic attack \| 1 C0085113 \| neurofibromatosis \| 1 C0001430 \| adenoma \| 1 C0018552 \| hamartomas \| 1 C0014544 \| epilepsy \| 1 C0149521 \| recurrent pancreatitis \| 1 C1959589 \| cavernous angioma \| 1 C0018916 \| hemangiomas \| 1 C0002395 \| alzheimer's disease \| 1 C0017636 \| glioblastoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) RASA1 \| 5921 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:119) 634 \| CEACAM1 \| DISEASES 6554 \| SLC10A1 \| DISEASES 4313 \| MMP2 \| DISEASES 5327 \| PLAT \| DISEASES 3696 \| ITGB8 \| DISEASES 24145 \| PANX1 \| DISEASES 51185 \| CRBN \| DISEASES 63923 \| TNN \| DISEASES 7291 \| TWIST1 \| DISEASES 1948 \| EFNB2 \| DISEASES 2354 \| FOSB \| DISEASES 2658 \| GDF2 \| DISEASES 54567 \| DLL4 \| DISEASES 968 \| CD68 \| DISEASES 182 \| JAG1 \| DISEASES 187 \| APLNR \| DISEASES 1840 \| DTX1 \| DISEASES 3569 \| IL6 \| DISEASES 7057 \| THBS1 \| DISEASES 10017 \| BCL2L10 \| DISEASES 7450 \| VWF \| DISEASES 23531 \| MMD \| DISEASES 6521 \| SLC4A1 \| DISEASES 9739 \| SETD1A \| DISEASES 10558 \| SPTLC1 \| DISEASES 4722 \| NDUFS3 \| DISEASES 3791 \| KDR \| DISEASES 6722 \| SRF \| DISEASES 8034 \| SLC25A16 \| DISEASES 5373 \| PMM2 \| DISEASES 7157 \| TP53 \| DISEASES 2702 \| GJA5 \| DISEASES 5972 \| REN \| DISEASES 5921 \| RASA1 \| DISEASES 54901 \| CDKAL1 \| DISEASES 79017 \| GGCT \| DISEASES 4851 \| NOTCH1 \| DISEASES 5352 \| PLOD2 \| DISEASES 9510 \| ADAMTS1 \| DISEASES 201163 \| FLCN \| DISEASES 7079 \| TIMP4 \| DISEASES 340348 \| TSPAN33 \| DISEASES 10841 \| FTCD \| DISEASES 30812 \| SOX8 \| DISEASES 27302 \| BMP10 \| DISEASES 3490 \| IGFBP7 \| DISEASES 10085 \| EDIL3 \| DISEASES 23305 \| ACSL6 \| DISEASES 64321 \| SOX17 \| DISEASES 58157 \| NGB \| DISEASES 1381 \| CRABP1 \| DISEASES 4314 \| MMP3 \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 947 \| CD34 \| DISEASES 5198 \| PFAS \| DISEASES 3352 \| HTR1D \| DISEASES 7915 \| ALDH5A1 \| DISEASES 285 \| ANGPT2 \| DISEASES 3039 \| HBA1 \| DISEASES 282809 \| POC1B \| DISEASES 788 \| SLC25A20 \| DISEASES 7433 \| VIPR1 \| DISEASES 10215 \| OLIG2 \| DISEASES 10057 \| ABCC5 \| DISEASES 54821 \| ERCC6L \| DISEASES 3091 \| HIF1A \| DISEASES 23462 \| HEY1 \| DISEASES 23321 \| TRIM2 \| DISEASES 4089 \| SMAD4 \| DISEASES 889 \| KRIT1 \| DISEASES 7316 \| UBC \| DISEASES 10516 \| FBLN5 \| DISEASES 5154 \| PDGFA \| DISEASES 2873 \| GPS1 \| DISEASES 51703 \| ACSL5 \| DISEASES 5906 \| RAP1A \| DISEASES 2050 \| EPHB4 \| DISEASES 2547 \| XRCC6 \| DISEASES 23607 \| CD2AP \| DISEASES 2157 \| F8 \| DISEASES 8828 \| NRP2 \| DISEASES 9722 \| NOS1AP \| DISEASES 3664 \| IRF6 \| DISEASES 2153 \| F5 \| DISEASES 10767 \| HBS1L \| DISEASES 1942 \| EFNA1 \| DISEASES 1944 \| EFNA3 \| DISEASES 257 \| ALX3 \| DISEASES 282991 \| BLOC1S2 \| DISEASES 5728 \| PTEN \| DISEASES 7422 \| VEGFA \| DISEASES 4318 \| MMP9 \| DISEASES 2022 \| ENG \| DISEASES 659 \| BMPR2 \| DISEASES 4855 \| NOTCH4 \| DISEASES 2155 \| F7 \| DISEASES 1676 \| DFFA \| DISEASES 57380 \| MRS2 \| DISEASES 7010 \| TEK \| DISEASES 54796 \| BNC2 \| DISEASES 427 \| ASAH1 \| DISEASES 192668 \| CYS1 \| DISEASES 361 \| AQP4 \| DISEASES 94 \| ACVRL1 \| DISEASES 11009 \| IL24 \| DISEASES 9244 \| CRLF1 \| DISEASES 51520 \| LARS \| DISEASES 815 \| CAMK2A \| DISEASES 344022 \| NOTO \| DISEASES 3481 \| IGF2 \| DISEASES 387836 \| CLEC2A \| DISEASES 6559 \| SLC12A3 \| DISEASES 8831 \| SYNGAP1 \| DISEASES 139728 \| PNCK \| DISEASES 54475 \| NLE1 \| DISEASES 6513 \| SLC2A1 \| DISEASES 4857 \| NOVA1 \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	842
Disease	arteriovenous malformation
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:86) HP:0002617 \| Aneurysmal dilatation \| 27 HP:0001342 \| Intracerebral hemorrhage \| 9 HP:0001009 \| Telangiectases \| 7 HP:0001250 \| Seizures \| 7 HP:0002584 \| Intestinal hemorrhage \| 6 HP:0001297 \| Cerebral vascular events \| 6 HP:0002239 \| Gastrointestinal hemorrhage \| 5 HP:0004944 \| Cerebral artery aneurysm \| 5 HP:0002315 \| Headaches \| 5 HP:0012418 \| Low blood oxygen level \| 4 HP:0001733 \| Pancreatic inflammation \| 3 HP:0004947 \| Arteriovenous fistula \| 3 HP:0100661 \| Trigeminal neuralgia \| 3 HP:0000790 \| Hematuria \| 3 HP:0002664 \| Neoplasia \| 3 HP:0000969 \| Dropsy \| 2 HP:0002308 \| Chiari malformation \| 2 HP:0001635 \| Congestive heart failure \| 2 HP:0000822 \| Hypertension \| 2 HP:0000961 \| Cyanosis \| 2 HP:0030692 \| Brain tumor \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0001735 \| Acute pancreatitis \| 2 HP:0001028 \| Strawberry mark \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0012151 \| Hemothorax \| 2 HP:0001596 \| Hair loss \| 2 HP:0100027 \| Recurring pancreatitis \| 1 HP:0005521 \| Disseminated intravascular coagulation \| 1 HP:0002249 \| Melena \| 1 HP:0001649 \| Tachycardia \| 1 HP:0005306 \| Capillary hemangioma \| 1 HP:0001891 \| Iron-deficiency anemia \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0001694 \| Right-to-left shunt \| 1 HP:0010628 \| Facial palsy, unilateral or bilateral \| 1 HP:0012329 \| Angioblastoma \| 1 HP:0001892 \| Bleeding diathesis \| 1 HP:0030528 \| Paracentral scotoma \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0030853 \| Heterotaxy \| 1 HP:0012173 \| Postural tachycardia \| 1 HP:0000016 \| Urinary retention \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0002624 \| Abnormal vein \| 1 HP:0011970 \| Cerebral amyloid angiopathy \| 1 HP:0000603 \| Central scotomata \| 1 HP:0000572 \| Visual loss \| 1 HP:0002576 \| Intussusception \| 1 HP:0001006 \| Marked hypotrichosis \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0100014 \| Macular pucker \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0003764 \| Naevus \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0001750 \| Single ventricle \| 1 HP:0002583 \| Colitis \| 1 HP:0001399 \| Liver failure \| 1 HP:0002206 \| Pulmonary fibrosis \| 1 HP:0002326 \| TIA \| 1 HP:0012382 \| Left-to-right shunt \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0001048 \| Cavernous angioma \| 1 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0001903 \| Anemia \| 1 HP:0012481 \| Developmental Venous Anomaly \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0012587 \| Gross hematuria \| 1 HP:0012735 \| Coughing \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0030214 \| Sex addiction \| 1 HP:0011695 \| Cerebellar hemorrhage \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0030049 \| Brain abscess \| 1

Disease ID	842
Disease	arteriovenous malformation
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:21) C0019080 \| hemorrhage \| 29 C0002940 \| aneurysms \| 17 C0038454 \| stroke \| 6 C0267373 \| intestinal bleeding \| 6 C0018944 \| hematoma \| 6 C0018681 \| headache \| 5 C0036572 \| seizures \| 4 C0917996 \| cerebral aneurysms \| 3 C0026654 \| moyamoya disease \| 2 C0001339 \| acute pancreatitis \| 2 C0018801 \| heart failure \| 2 C1959589 \| cavernous angioma \| 1 C0162869 \| ruptured aneurysm \| 1 C0038525 \| subarachnoid hemorrhage \| 1 C0040053 \| thrombosis \| 1 C0007766 \| intracranial aneurysms \| 1 C0004114 \| astrocytoma \| 1 C1695782 \| cerebral hypoperfusion \| 1 C2062666 \| posterior inferior cerebellar artery aneurysm \| 1 C0014544 \| epilepsy \| 1 C0007766 \| intracranial aneurysm \| 1

Manually Genotype(Total Text Mining 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
rs522616	20822909	4314	MMP3	umls:C0003857	BeFree	The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population.	0.000542884	2010	MMP3	11	102844317	T	C
rs9509	22796276	4318	MMP9	umls:C0003857	BeFree	The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations.	0.000542884	2012	MMP9	20	46016514	T	C

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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0003857	diethylstilbestrol	D004054	56-53-1	arteriovenous malformations	MESH:D001165	marker/mechanism	8316320

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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