MCID: VSC047
MIFTS: 43

Vascular Malformation

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Vascular Malformation

MalaCards integrated aliases for Vascular Malformation:

Name: Vascular Malformation 24

Classifications:



Summaries for Vascular Malformation

MalaCards based summary : Vascular Malformation is related to vascular malformation, primary intraosseous and clove syndrome, somatic. An important gene associated with Vascular Malformation is ELMO2 (Engulfment And Cell Motility 2), and among its related pathways/superpathways are Pathways in cancer and Endometrial cancer. The drugs Dexmedetomidine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and endothelial, and related phenotypes are behavior/neurological and embryo

Wikipedia : 72 Vascular malformation is a blood vessel abnormality. There are many types, but the most common is... more...

Related Diseases for Vascular Malformation

Diseases related to Vascular Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
id Related Disease Score Top Affiliating Genes
1 vascular malformation, primary intraosseous 12.1
2 clove syndrome, somatic 11.7
3 phacomatosis pigmentovascularis 11.2
4 angiodysplasia 11.1
5 cerebral cavernous malformations-1 10.9
6 capillary malformation-arteriovenous malformation 10.8
7 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 10.8
8 sturge-weber syndrome, somatic, mosaic 10.8
9 capillary malformations, congenital, 1, somatic, mosaic 10.8
10 proteus syndrome, somatic 10.8
11 hemangioma, capillary infantile 10.6
12 athabaskan brainstem dysgenesis syndrome 10.6
13 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.6
14 extracranial arteriovenous malformation 10.6
15 hypertrophic olivary degeneration 10.6
16 regional odontodysplasia 10.6
17 pulmonary branches stenosis 10.3 ACVRL1 ENG
18 endophthalmitis 10.3 ESR1 SLC2A1
19 glomerulosclerosis, focal segmental, 7 10.3 ENG SMAD4
20 pulmonary venoocclusive disease 1 10.3 ACVRL1 ENG
21 homocystinuria caused by cystathionine beta-synthase deficiency 10.2 ACVRL1 ENG
22 cutaneous mucoepidermoid carcinoma 10.2 ESR1 SLC2A1
23 tooth erosion 10.2 ACVRL1 ENG
24 welander distal myopathy, swedish type 10.2 ACVRL1 ENG
25 hereditary hemorrhagic telangiectasia 10.1
26 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 10.1 ENG ESR1
27 hemangioma 10.0
28 glaucoma 3, primary congenital, e 10.0 ACVRL1 SMAD4
29 holoprosencephaly 6 10.0 ESR1 RAC1
30 hepatitis 10.0
31 cerebritis 9.9
32 respiratory syncytial virus infectious disease 9.9 ACVRL1 ENG SMAD4
33 holoprosencephaly 9.9 ACVRL1 ENG SMAD4
34 ulceroglandular tularemia 9.9 AR ESR1
35 gastric tubular adenocarcinoma 9.9 AR ESR1
36 sarcomatoid squamous cell skin carcinoma 9.9 AR ESR1
37 endotheliitis 9.8
38 gastroesophageal junction adenocarcinoma 9.8 AR ESR1
39 osteogenesis imperfecta 9.8 AR ESR1
40 weber syndrome 9.8
41 kidney clear cell sarcoma 9.8 AR ESR1
42 carbuncle 9.8 AR ESR1
43 esophagus sarcoma 9.7 AR ESR1
44 lubani-al saleh-teebi syndrome 9.7 ACVRL1 ENG SMAD4
45 bannayan-riley-ruvalcaba syndrome 9.7
46 ruvalcaba syndrome 9.7
47 cavernous hemangioma 9.7
48 neuropathy 9.7
49 hemihypertrophy 9.7
50 angiomatosis 9.7

Graphical network of the top 20 diseases related to Vascular Malformation:



Diseases related to Vascular Malformation

Symptoms & Phenotypes for Vascular Malformation

MGI Mouse Phenotypes related to Vascular Malformation:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ESR1 AR ENG ACVRL1 SMAD4 SLC2A1
2 embryo MP:0005380 10 RAC1 ENG ACVRL1 ESR1 AR SLC2A1
3 cardiovascular system MP:0005385 9.99 AR RAC1 ENG ACVRL1 ESR1 SMAD4
4 growth/size/body region MP:0005378 9.98 AR RAC1 ENG ACVRL1 ESR1 SLC2A1
5 homeostasis/metabolism MP:0005376 9.91 ESR1 AR ENG ACVRL1 SMAD4 RAC1
6 craniofacial MP:0005382 9.89 AR RAC1 ENG ACVRL1 SMAD4
7 digestive/alimentary MP:0005381 9.88 AR ENG ACVRL1 ESR1 SMAD4
8 hematopoietic system MP:0005397 9.88 ESR1 AR ENG ACVRL1 SMAD4 RAC1
9 mortality/aging MP:0010768 9.8 ESR1 AR ENG ACVRL1 SMAD4 RAC1
10 integument MP:0010771 9.72 ESR1 AR ENG SMAD4 RAC1
11 muscle MP:0005369 9.63 RAC1 ENG ACVRL1 ESR1 AR SMAD4
12 nervous system MP:0003631 9.5 RAC1 ENG ACVRL1 ESR1 AR SLC2A1
13 normal MP:0002873 9.02 ESR1 AR ENG ACVRL1 SMAD4

Drugs & Therapeutics for Vascular Malformation

Drugs for Vascular Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 357)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Sevelamer Approved Phase 4,Phase 3 52757-95-6, 152751-57-0 3085017
6
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
7
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
8
Menthol Approved Phase 4,Phase 3 2216-51-5 16666
9
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
10
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2 1197-18-8 5526
11
Nitroglycerin Approved, Investigational Phase 4,Phase 3 55-63-0 4510
12
Adalimumab Approved Phase 4 331731-18-1 16219006
13
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
14
Cilostazol Approved Phase 4 73963-72-1 2754
15
Celiprolol Approved, Investigational Phase 4 56980-93-9
16
Zinc Approved Phase 4 7440-66-6 32051 23994
17
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
18
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
19
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
20
Calcium Carbonate Approved Phase 4,Phase 3 471-34-1
21
Ethiodized oil Approved Phase 4 8008-53-5
22
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
24
Curcumin Investigational Phase 4 458-37-7 969516
25 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Adrenergic Agonists Phase 4,Phase 3,Phase 2
27 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3
28 Adrenergic alpha-Agonists Phase 4,Phase 3
29 Analgesics Phase 4,Phase 2,Phase 3
30 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
31 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
32 Anesthetics, General Phase 4
33 Anesthetics, Intravenous Phase 4
34 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
35 Hypnotics and Sedatives Phase 4
36 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
38 Anesthetics, Local Phase 4
39 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1
40 Diuretics, Potassium Sparing Phase 4
41 Sodium Channel Blockers Phase 4
42 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3
44 Antirheumatic Agents Phase 4,Phase 2,Phase 3
45 1 alpha-hydroxyergocalciferol Phase 4
46 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Early Phase 1
47 Ergocalciferols Phase 4
48 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
49 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
50 Vitamins Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 552)

id Name Status NCT ID Phase Drugs
1 Dexmedetomidine and Propofol As Sole Sedative Agent for Patients Undergoing Arteriovenous Fistula Surgery Unknown status NCT02447796 Phase 4 Propofol;Dexmedetomidine
2 2% Lidocaine Plus 0.5% Bupivacaine Versus 0.5% Bupivacaine in Brachial Block for Creation of Arteriovenous (AV) Fistula Unknown status NCT00993746 Phase 4 Bupivacaine plus lidocaine;Bupivacaine 30 ml
3 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4 curcumin
4 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4 Vitamin D2
5 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
6 Effects of Heparin on Arteriovenous Fistula Patency Completed NCT02493504 Phase 4 Heparin
7 Use of Topical Tranexamic Acid and Bacitracin in Dialysis Patients Completed NCT02106962 Phase 4 Topical Tranexamic Acid 5% with bacitracin
8 Iliac Vein Stenting in Advanced Chronic Venous Insufficiency Completed NCT02149212 Phase 4 Phlebotonic
9 The Use of Glyceryl Trinitrate Patches in Arteriovenous Fistulas Completed NCT01685710 Phase 4 GTN patch;placebo comparator
10 The Effect of Adalimumab (Humira) on Vascular Abnormalities in Rheumatoid Arthritis. A Pilot Study. Completed NCT01270087 Phase 4 Adalimumab
11 Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis Completed NCT01133054 Phase 4
12 Molecular Mechanisms of Type 2 Diabetes Mellitus Completed NCT00816218 Phase 4 Pioglitazone
13 Evaluation of Cilostazol in Combination With L-Carnitine Completed NCT00822172 Phase 4 cilostazol
14 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
15 CARDIOLITE-413: A Study for Patients Who Had a PCI for an Acute MI Completed NCT00162331 Phase 4 Technetium Tc99m Sestamibi
16 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
17 Low Dose One-Day Tc99m Protocol With a High-Efficiency Cardiac Dedicated Gamma Camera For Detection of Coronary Disease Completed NCT01135095 Phase 4
18 A Multicenter Study of Iomeron®-400 Used With Multi-detector Computed Tomography Angiography (MDCTA) Completed NCT02596048 Phase 4
19 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
20 Intravitreal Macugen for Ischaemic Diabetic Macular Oedema Completed NCT01175070 Phase 4 Intravitreal injection of pegaptanib sodium
21 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4 magnesium pidolate;placebo
22 The Effects of α-adrenergic Receptor Antagonists on Choroid and Pupil Completed NCT03144596 Phase 4 Alfuzosin Hydrochloride 10 MG;Tamsulosin Hydrochloride 0.4 MG
23 Postmarketing Safety Study of Hemoporfin in Patients With Port Wine Stain Recruiting NCT03181984 Phase 4 Hemoporfin
24 A Pilot Study of Hemoporfin PDT in Children With Port-wine Stain Recruiting NCT03125057 Phase 4 Hemoporfin PDT
25 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery Recruiting NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
26 Ferumoxytol Enhanced Magnetic Resonance Angiography in Chronic Kidney Disease Recruiting NCT02997046 Phase 4
27 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
28 The Feasibility of Propofol TCI in Hemodialysis Patients Undergoing Arteriovenous Shunt Surgery Recruiting NCT03311581 Phase 4 Propofol
29 CPAP Effect on the Progression of Diabetic Retinopathy in Patients With Sleep Apnea Recruiting NCT02874313 Phase 4 Pharmacological treatment
30 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Recruiting NCT02478346 Phase 4 Fluorescein Sodium
31 Apollo™ Onyx™ Delivery Micro Catheter Post Market Safety Study Active, not recruiting NCT02378883 Phase 4
32 Peripheral and Macular Retinal Vascular Perfusion and Leakage in DME and RVO Active, not recruiting NCT02503540 Phase 4 Aflibercept
33 Quantitative Subharmonic Breast Imaging Active, not recruiting NCT01490892 Phase 4 3D HI and SHI of UCA
34 Lanthanum Versus Calcium Carbonate for Vascular Abnormalities in Patients With CKD and Hyperphosphatemia Enrolling by invitation NCT02237534 Phase 4 Lanthanum carbonate;Calcium Carbonate
35 Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Not yet recruiting NCT02079818 Phase 4
36 Evaluation of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. Not yet recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
37 Functional Magnetic Resonance Imagine(fMRI)Navigation in Intracranial Arteriovenous Malformation Surgery Unknown status NCT01758211 Phase 3
38 Weight Loss Effects on Heart and Blood Vessel Function in Obesity Unknown status NCT00782262 Phase 2, Phase 3
39 PROVIDENCE-1: Study of Rifalazil in Chlamydia Pneumoniae Seropositive Patients Unknown status NCT00251849 Phase 3 Rifalazil
40 Bivalirudin Plus Stenting in Long Lesion to Avoid Periprocedural Myocardial Necrosis Trial Unknown status NCT01555658 Phase 3 Bivalirudin;Unfractioned Heparin
41 Efficacy and Safety of the Mammalian Target of Rapamycin (mTor Rapamycin) Inhibitor in Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus
42 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
43 A Randomized Trial of Unruptured Brain AVMs Completed NCT00389181 Phase 3
44 Percutaneous Less Invasive AV Fistula for Vascular Access in ESRD Completed NCT02363972 Phase 3
45 Safety and Efficacy Study of the Venous Window Needle Guide to Access Arteriovenous (AV)Fistulae Completed NCT01471041 Phase 2, Phase 3
46 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
47 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia Completed NCT00004654 Phase 3 soy protein isolate
48 ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Completed NCT00355108 Phase 3 tranexamic acid
49 Magnevist® Injection Enhanced MRA at Two Dose Levels Compared to Non Contrast MRA for the Detection of Structural Abnormalities of the Infrarenal Aorta and Peripheral Arteries Completed NCT00185276 Phase 3 Gadopentetate dimeglumine (Magnevist, BAY86-4882);Gadopentetate dimeglumine (Magnevist, BAY86-4882)
50 Magnevist® Injection Enhanced MRA Compared to Non Contrast MRA for the Detection of Structural Abnormalities of the Aortic Arch and Cerebral Branches Completed NCT00310609 Phase 3 Gadopentetate dimeglumine (Magnevist)

Search NIH Clinical Center for Vascular Malformation

Genetic Tests for Vascular Malformation

Genetic tests related to Vascular Malformation:

id Genetic test Affiliating Genes
1 Vascular Malformation 24

Anatomical Context for Vascular Malformation

MalaCards organs/tissues related to Vascular Malformation:

39
Heart, Brain, Endothelial, Kidney, Testes, Liver, Eye

Publications for Vascular Malformation

Articles related to Vascular Malformation:

(show top 50) (show all 201)
id Title Authors Year
1
Isolated cranio-orbitofacial neurofibroma mimicking vascular malformation. ( 28820281 )
2017
2
Awake Surgery for Brain Vascular Malformations and Moyamoya Disease. ( 28377246 )
2017
3
The Usefulness of Surgical Treatment in Slow-Flow Vascular Malformation Patients. ( 28728325 )
2017
4
Balloon-Occluded Retrograde Transvenous Obliteration of a Gastric Vascular Malformation: An Innovative Approach to Treatment of a Rare Condition. ( 27671152 )
2017
5
GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome. ( 28571101 )
2017
6
Diffuse vascular malformation of large intestine clinically and radiologically misdiagnosed as ulcerative colitis. ( 28458826 )
2017
7
A case of extensive pharyngeal vascular malformation successfully treated with Kampo medicine. ( 28389161 )
2017
8
Endoglin prevents vascular malformation by regulating flow-induced cell migration and specification through VEGFR2 signalling. ( 28530660 )
2017
9
Role of sclerotherapy in management of vascular malformation in the maxillofacial region: Our experience. ( 28761279 )
2017
10
Putative Intravascular Myofibroma Mimicking a Vascular Malformation With Phleboliths. ( 28525911 )
2017
11
Unilateral cutaneous congestion induced by Valsalva manoeuvre due to vascular malformation. ( 28280087 )
2017
12
Effects of physiotherapy combined with sirolimus in a patient with vascular malformation: A case report. ( 27976563 )
2016
13
Natural history of brain capillary vascular malformations in hereditary hemorrhagic telangiectasia patients. ( 26919971 )
2016
14
Linear Multiple Epithelioid Hemangioma Associated With a Quiescent Vascular Malformation. ( 27491872 )
2016
15
Spontaneous Cystic Penile Vascular Malformation in an Adolescent and Review of the Literature. ( 27112512 )
2016
16
HIF-1I+ and HIF-2I+ induced angiogenesis in gastrointestinal vascular malformation and reversed by thalidomide. ( 27249651 )
2016
17
Vasa Nervorum Feeders of Vascular Malformation. ( 27338499 )
2016
18
High-Flow Vascular Malformation in the Sigmoid Mesentery Successfully Treated with a Combination of Transarterial and Transvenous Embolization. ( 27456690 )
2016
19
Letter to the Editor: Vascular tumor versus vascular malformation of the internal auditory canal. ( 27419829 )
2016
20
Low-Flow Vascular Malformation Pitfalls: From Clinical Examination to Practical Imaging Evaluation--Part 1, Lymphatic Malformation Mimickers. ( 26999565 )
2016
21
Orbital infarction syndrome after multiple percutaneous sclerotherapy sessions for facial low-flow vascular malformation: A case report and literature review. ( 27688283 )
2016
22
Proptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome. ( 27065430 )
2016
23
A congenital localised reticular vascular malformation. ( 27044260 )
2016
24
Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation. ( 27583178 )
2016
25
Angiolymphoid Hyperplasia With Eosinophilia Within a Vascular Malformation: Case Report and Review of the Literature. ( 27141028 )
2016
26
A digital vascular malformation masquerading as synovitis. ( 26815764 )
2016
27
A long-Segmental Vascular Malformation in the Small Bowel Presenting With Gastrointestinal Bleeding in a Preschool-Aged Child. ( 27110342 )
2016
28
A Vascular Malformation Invading the Medial Plantar Nerve. ( 26802056 )
2016
29
Net-like Superficial Vascular Malformation: Clinical Description and Evidence for Lymphatic Origin. ( 26800314 )
2016
30
Successful Treatment of a Complex Vascular Malformation With Sirolimus and Surgical Resection. ( 27820120 )
2016
31
Thermographic Assessment of a Vascular Malformation of the Hand: A New Imaging Modality. ( 27195175 )
2016
32
Role of endovascular embolization for trigeminal neuralgia related to cerebral vascular malformation. ( 27402800 )
2016
33
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. ( 27476657 )
2016
34
Coexistence of splenic hemangioma and vascular malformation of the vertebrae. ( 26860733 )
2016
35
A Vascular Malformation Presenting as a Peripheral Nerve Sheath Tumor. ( 28077959 )
2016
36
Bleeding recurrence in patients with gastrointestinal vascular malformation after thalidomide. ( 27537596 )
2016
37
Oral encapsulated vascular malformation: An undescribed presentation in the mouth. ( 26855712 )
2016
38
Low-Flow Vascular Malformation Pitfalls: From Clinical Examination to Practical Imaging Evaluation--Part 2, Venous Malformation Mimickers. ( 26999647 )
2016
39
Benign Vascular Malformation at the Ischial Tuberosity. ( 27363574 )
2016
40
Vascular Steal Syndrome, Optic Neuropathy, and Foreign Body Granuloma Reaction to Onyx-18 Embolization for Congenital Orbito-Facial Vascular Malformation. ( 27239463 )
2016
41
Venolymphatic vascular malformation of the parotid gland extending into the parapharyngeal space: A rare presentation. ( 27601828 )
2016
42
Intravascular Myopericytoma of the Plantar Region: Case Report and Discussion of the Probable Origin From a Cutaneous Vascular Malformation. ( 26959697 )
2016
43
A rare atypical rapidly involuting congenital hemangioma combined with vascular malformation in the upper limb. ( 27565546 )
2016
44
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
45
Ex Vivo Resection and Renal Autotransplantation for the Treatment of a Large Renal Vein Aneurysm Causing Recurrent Pulmonary Embolism and a Coexisting Vascular Malformation: A Case Report. ( 27334478 )
2016
46
Resection and Advancement Flap Closure of a Combined Vascular Malformation of the Mons Pubis. ( 26942353 )
2016
47
Turner syndrome with spinal hemorrhage due to vascular malformation. ( 26817012 )
2015
48
The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. ( 25847705 )
2015
49
The Dural AV-Fistula (DAVF), the Most Frequent Acquired Vascular Malformation of the Central Nervous System (CNS). ( 26308245 )
2015
50
A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome. ( 25709171 )
2015

Variations for Vascular Malformation

Expression for Vascular Malformation

Search GEO for disease gene expression data for Vascular Malformation.

Pathways for Vascular Malformation

GO Terms for Vascular Malformation

Cellular components related to Vascular Malformation according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.8 AR ESR1 SMAD4

Biological processes related to Vascular Malformation according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.89 ACVRL1 AR ENG ESR1 SMAD4
2 positive regulation of transcription, DNA-templated GO:0045893 9.86 ACVRL1 AR ESR1 SMAD4
3 protein deubiquitination GO:0016579 9.77 AR ESR1 SMAD4
4 in utero embryonic development GO:0001701 9.76 ACVRL1 AR SMAD4
5 negative regulation of gene expression GO:0010629 9.75 ACVRL1 ENG ESR1
6 steroid hormone mediated signaling pathway GO:0043401 9.61 AR ESR1
7 intracellular receptor signaling pathway GO:0030522 9.61 AR ESR1
8 male gonad development GO:0008584 9.61 AR ESR1 SMAD4
9 cellular response to BMP stimulus GO:0071773 9.59 ACVRL1 SMAD4
10 outflow tract septum morphogenesis GO:0003148 9.57 ENG SMAD4
11 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.55 ENG SMAD4
12 mammary gland alveolus development GO:0060749 9.54 AR ESR1
13 uterus development GO:0060065 9.52 ESR1 SMAD4
14 endocardial cushion morphogenesis GO:0003203 9.51 ACVRL1 ENG
15 BMP signaling pathway GO:0030509 9.5 ACVRL1 ENG SMAD4
16 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.48 ENG SMAD4
17 seminiferous tubule development GO:0072520 9.46 AR SMAD4
18 response to transforming growth factor beta GO:0071559 9.4 ENG SMAD4
19 dorsal aorta morphogenesis GO:0035912 9.37 ACVRL1 ENG
20 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.33 ACVRL1 ENG SMAD4
21 cellular response to mechanical stimulus GO:0071260 9.26 ENG RAC1
22 endocardial cushion to mesenchymal transition GO:0090500 8.96 ACVRL1 ENG
23 positive regulation of BMP signaling pathway GO:0030513 8.8 ACVRL1 ENG SMAD4

Molecular functions related to Vascular Malformation according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.65 AR ESR1 RAC1
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.63 AR ESR1 SMAD4
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.54 AR ESR1 SMAD4
4 steroid hormone receptor activity GO:0003707 9.43 AR ESR1
5 RNA polymerase II transcription factor binding GO:0001085 9.4 AR SMAD4
6 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.32 AR ESR1
7 steroid binding GO:0005496 9.26 AR ESR1
8 transforming growth factor beta binding GO:0050431 9.16 ACVRL1 ENG
9 activin binding GO:0048185 8.96 ACVRL1 ENG
10 ATPase binding GO:0051117 8.8 AR ESR1 RAC1

Sources for Vascular Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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