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Details
Link-It Detail - Disease - Arteriovenous Malformations
Debug Stats
  • ### Total Build Time: 44 ms 46.385 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 991 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 993 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1,017 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 13.419 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 24.203 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Arteriovenous Malformations C0003857
Definition (1)

Arteriovenous malformations (AVMs) are defects in your circulatory system. The circulatory system includes the arteries, veins and capillaries that carry blood to and from the heart. An AVM is a snarled tangle of arteries and veins. It interferes with the blood circulation in an organ. AVMs can happen anywhere, but the ones located in the brain or spinal cord can have effects such as seizures or headaches. However, most people with brain and spinal cord AVMs experience few, if any, significant symptoms.

The cause of AVMs is unknown, though they seem to develop during pregnancy or soon after birth. The greatest danger of an AVM is hemorrhage. Prevention can include surgery or focused irradiation therapy.

NIH: National Institute of Neurological Disorders and Stroke

Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Vascular Diseases C0042373
img Vascular Malformations C0158570
Children (2)
img Arteriovenous Fistula C0003855
img Intracranial Arteriovenous Malformations C0007772
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Vascular Diseases C00423733img Vascular Diseases C0042373
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Vascular Malformations C0158570
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430504img Vascular Malformations C0158570
Relationships (87)

Relation Types:
diso_​to_​anat : 32
diso_​to_​chem : 5
diso_​to_​diso : 46
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 64
associated_​with : 6
is_​associated_​anatomic_​site_​of : 1
isa : 14
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO249img Complication Aspects C1171258
DISO_to_DISO226img Complication Aspects C1171258
DISO_to_ANAT147img Pulmonary Artery C0034052
DISO_to_ANAT120img Pulmonary Veins C0034090
DISO_to_ANAT118img Pulmonary Artery C0034052
DISO_to_ANAT97img Pulmonary Veins C0034090
DISO_to_DISO89img Hereditary hemorrhagic telangiectasia C0039445
DISO_to_DISO57img Hemangioma C0018916
DISO_to_DISO48img BLEEDING GASTROINTESTINAL C0017181
DISO_to_DISO47img Hereditary hemorrhagic telangiectasia C0039445
DISO_to_DISO41img BLEEDING GASTROINTESTINAL C0017181
DISO_to_ANAT36img Spinal Cord C0037925
DISO_to_ANAT34img Uterus C0042149
DISO_to_ANAT33img Spinal Cord C0037925
DISO_to_ANAT31img Uterus C0042149
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_DISO25img Hemangioma C0018916
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_ANAT21img Mandible C0024687
DISO_to_ANAT19img Lung C0024109
DISO_to_ANAT19img Pancreas C0030274
DISO_to_CHEM19img Polyvinyl C0032629
DISO_to_ANAT16img Face C0015450
DISO_to_DISO16img CNS VASCULAR ANOMALIES C0752155
DISO_to_ANAT15img Skin C1123023
Genes (20)

Species:
human : 18
mouse : 2
SpeciesGeneGeneIdGene NameEvidence
MousePGF5228placental growth factor
img NCI, Score=801, Pubmed Id: 12837578, UMLKSK CUI: C0003857
MouseNOTCH44855notch 4
img NCI, Score=801, Pubmed Id: 15994223, UMLKSK CUI: C0003857
HumanINHBE83729inhibin, beta E
img NCI, Score=801, Pubmed Id: 11062473, UMLKSK CUI: C0003857
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
INFERRED, Score=800, UMLKSK CUI: C0003857
HumanNES10763nestin
img NCI, Score=801, Pubmed Id: 14531551, UMLKSK CUI: C0003857
img NCI, Score=801, Pubmed Id: 14531551, UMLKSK CUI: C0003857
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=734, Pubmed Id: 18535271, UMLKSK CUI: C0003857
HumanTNF7124tumor necrosis factor
img GENERIF, Score=901, Pubmed Id: 16322490, UMLKSK CUI: C0003857
HumanSLC6A36531solute carrier family 6 (neurotransmitter transporter), member 3
img NCI, Score=801, Pubmed Id: 11295793, UMLKSK CUI: C0003857
HumanRASA15921RAS p21 protein activator (GTPase activating protein) 1
img NCI, Score=801, Pubmed Id: 15917201, UMLKSK CUI: C0003857
img GENERIF, Score=1000, Pubmed Id: 18363760, UMLKSK CUI: C0003857
HumanQDPR5860quinoid dihydropteridine reductase
img NCI, Score=801, Pubmed Id: 8016912, UMLKSK CUI: C0003857
HumanPROS15627protein S (alpha)
img NCI, Score=801, Pubmed Id: 2528285, UMLKSK CUI: C0003857
img NCI, Score=801, Pubmed Id: 2149767, UMLKSK CUI: C0003857
img NCI, Score=801, Pubmed Id: 2528285, UMLKSK CUI: C0003857
HumanSMAD44089SMAD family member 4
img OMIM, Score=882, UMLKSK CUI: C0003857
HumanITGAV3685integrin, alpha V
img NCI, Score=801, Pubmed Id: 15925879, UMLKSK CUI: C0003857
HumanIL63569interleukin 6 (interferon, beta 2)
img GENERIF, Score=901, Pubmed Id: 18841030, UMLKSK CUI: C0003857
img GENERIF, Score=901, Pubmed Id: 15331795, UMLKSK CUI: C0003857
img GENERIF, Score=694, Pubmed Id: 16278864, UMLKSK CUI: C0003857
HumanIGF1R3480insulin-like growth factor 1 receptor
INFERRED, Score=800, UMLKSK CUI: C0003857
HumanHMOX13162heme oxygenase (decycling) 1
INFERRED, Score=800, UMLKSK CUI: C0003857
HumanENG2022endoglin
Click here to display 21 evidence detail records.
HumanCPOX1371coproporphyrinogen oxidase
img NCI, Score=801, Pubmed Id: 9577971, UMLKSK CUI: C0003857
HumanAPOE348apolipoprotein E
img GENERIF, Score=901, Pubmed Id: 16639317, UMLKSK CUI: C0003857
HumanACVRL194activin A receptor type II-like 1
Click here to display 18 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003857Arteriovenous Malformations0self