CMAVM
MCID: CPL007
MIFTS: 40

Capillary Malformation-Arteriovenous Malformation (CMAVM) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation

Aliases & Descriptions for Capillary Malformation-Arteriovenous Malformation:

Name: Capillary Malformation-Arteriovenous Malformation 54 25 66 13 69
Capillary Malformation-Arteriovenous Malformation Syndrome 50 24 25 56 29
Cm-Avm 24 25 56
Cmavm 50 66
Vascular Malformations 42
Cm-Avm Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
capillary malformation-arteriovenous malformation syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

HPO:

32
capillary malformation-arteriovenous malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608354
Orphanet 56 ORPHA137667
ICD10 via Orphanet 34 Q27.3
MeSH 42 D054079

Summaries for Capillary Malformation-Arteriovenous Malformation

Genetics Home Reference : 25 Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.

MalaCards based summary : Capillary Malformation-Arteriovenous Malformation, also known as capillary malformation-arteriovenous malformation syndrome, is related to vascular malformation and vascular malformation, primary intraosseous, and has symptoms including arteriovenous malformation, capillary hemangiomas and arteriovenous fistula. An important gene associated with Capillary Malformation-Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator 1). The drugs Dexmedetomidine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 66 Capillary malformation-arteriovenous malformation: A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.

Description from OMIM: 608354

Related Diseases for Capillary Malformation-Arteriovenous Malformation

Graphical network of the top 20 diseases related to Capillary Malformation-Arteriovenous Malformation:



Diseases related to Capillary Malformation-Arteriovenous Malformation

Symptoms & Phenotypes for Capillary Malformation-Arteriovenous Malformation

Symptoms by clinical synopsis from OMIM:

608354

Clinical features from OMIM:

608354

Human phenotypes related to Capillary Malformation-Arteriovenous Malformation:

32
id Description HPO Frequency HPO Source Accession
1 arteriovenous malformation 32 HP:0100026
2 capillary hemangiomas 32 HP:0005306
3 arteriovenous fistula 32 HP:0004947

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation

Drugs for Capillary Malformation-Arteriovenous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 767)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
2
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 2078-54-8 4943
3
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
4
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2 1197-18-8 5526
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
8
Ramipril Approved Phase 4,Phase 3 87333-19-5 5362129
9
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 78919-13-8 6443959
10
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 58-61-7 60961
11
Dipyridamole Approved Phase 4,Phase 3 58-32-2 3108
12
Regadenoson Approved Phase 4,Phase 2 313348-27-5 219024
13
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-78-2 2244
14
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
15
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
16
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147536-97-8 104865
17
Warfarin Approved Phase 4,Phase 2,Phase 3 81-81-2 6691 54678486
18
Menthol Approved Phase 4,Phase 3 2216-51-5 16666
19
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
20
Nitroglycerin Approved, Investigational Phase 4,Phase 3 55-63-0 4510
21
Adalimumab Approved Phase 4 331731-18-1 16219006
22
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
23
Cilostazol Approved Phase 4 73963-72-1 2754
24
Celiprolol Approved, Investigational Phase 4 56980-93-9
25
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
26
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
27
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
28
Ethanol Approved Phase 4,Phase 2,Phase 1 64-17-5 702
29
Eplerenone Approved Phase 4 107724-20-9 150310 443872
30
Mechlorethamine Approved Phase 4,Phase 2 51-75-2 4033
31
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
32
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
33
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
34
Verapamil Approved Phase 4 52-53-9 2520
35
Cilnidipine Approved Phase 4 132203-70-4 5282138
36
Nifedipine Approved Phase 4 21829-25-4 4485
37
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
38
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
39
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
40
Ticlopidine Approved Phase 4,Phase 3,Phase 2 55142-85-3 5472
41
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-84-3 187
42
Ticagrelor Approved Phase 4,Phase 1,Phase 2 274693-27-5 9871419
43
Nicardipine Approved Phase 4 55985-32-5 4474
44
Remifentanil Approved Phase 4,Phase 1 132875-61-7 60815
45
Sevoflurane Approved, Vet_approved Phase 4,Phase 3 28523-86-6 5206
46
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 564-25-0 54671203
47
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 2 171596-29-5 110635
48
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
49
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
50
Calcium carbonate Approved Phase 4 471-34-1

Interventional clinical trials:

(show top 50) (show all 1345)
id Name Status NCT ID Phase
1 Dexmedetomidine and Propofol As Sole Sedative Agent for Patients Undergoing Arteriovenous Fistula Surgery Unknown status NCT02447796 Phase 4
2 Use of Topical Tranexamic Acid and Bacitracin in Dialysis Patients Unknown status NCT02106962 Phase 4
3 2% Lidocaine Plus 0.5% Bupivacaine Versus 0.5% Bupivacaine in Brachial Block for Creation of Arteriovenous (AV) Fistula Unknown status NCT00993746 Phase 4
4 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4
5 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4
6 Statin and Angiotensin-converting Enzyme Inhibitor on Symptoms in Patients With SCAD Unknown status NCT02008786 Phase 4
7 Lovaza Mechanisms of Action Unknown status NCT01301794 Phase 4
8 Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist Unknown status NCT00668824 Phase 4
9 Device Closure Versus Medical Therapy for Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale (DEFENSE-PFO) Unknown status NCT01550588 Phase 4
10 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
11 Diagnostic Benefits of HyperQTM vs. Conventional ECG Stress Test. Comparison of HyperQ vs. Stress ECG in Women Before Angiography Unknown status NCT00850486 Phase 4
12 Lexiscan(TM) Rb-82 Myocardial Perfusion PET: A Comparison With Dipyridamole Stress Unknown status NCT00808314 Phase 4
13 Microvascular Reperfusion Utilizing Sonothrombolysis in Acute Myocardial Infarction (MRUSMI TRIAL) Unknown status NCT02170103 Phase 4
14 PC-Trial: Patent Foramen Ovale and Cryptogenic Embolism Unknown status NCT00166257 Phase 4
15 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
16 Effects of Heparin on Arteriovenous Fistula Patency Completed NCT02493504 Phase 4
17 Iliac Vein Stenting in Advanced Chronic Venous Insufficiency Completed NCT02149212 Phase 4
18 The Use of Glyceryl Trinitrate Patches in Arteriovenous Fistulas Completed NCT01685710 Phase 4
19 The Effect of Adalimumab (Humira) on Vascular Abnormalities in Rheumatoid Arthritis. A Pilot Study. Completed NCT01270087 Phase 4
20 Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis Completed NCT01133054 Phase 4
21 Molecular Mechanisms of Type 2 Diabetes Mellitus Completed NCT00816218 Phase 4
22 Evaluation of Cilostazol in Combination With L-Carnitine Completed NCT00822172 Phase 4
23 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
24 CARDIOLITE-413: A Study for Patients Who Had a PCI for an Acute MI Completed NCT00162331 Phase 4
25 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
26 Low Dose One-Day Tc99m Protocol With a High-Efficiency Cardiac Dedicated Gamma Camera For Detection of Coronary Disease Completed NCT01135095 Phase 4
27 A Multicenter Study of Iomeron®-400 Used With Multi-detector Computed Tomography Angiography (MDCTA) Completed NCT02596048 Phase 4
28 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
29 Intravitreal Macugen for Ischaemic Diabetic Macular Oedema Completed NCT01175070 Phase 4
30 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4
31 The Effects of α-adrenergic Receptor Antagonists on Choroid and Pupil Completed NCT03144596 Phase 4
32 Effects of Vitamin C and E on Endothelial Function in Adolescent Diabetes Completed NCT02019186 Phase 4
33 A Prospective Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
34 Eplerenone in Systemic Right Ventricle Completed NCT00703352 Phase 4
35 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4
36 Beta-cell Function in Glucose Abnormalities and Acute Myocardial Infarction Completed NCT00627744 Phase 4
37 Comparison of Three Management Strategies for Post Cardiac Surgery Bleeding Completed NCT00188747 Phase 4
38 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4
39 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4
40 Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS) Completed NCT00371891 Phase 4
41 Myocardial Dysfunction in Type 2 Diabetes Mellitus (T2DM) Completed NCT01588470 Phase 4
42 The Effects of Cilnidipine on Metabolic Syndrome Improvement Completed NCT00325936 Phase 4
43 Efficacy and Safety of Valsartan Plus Hydrochlorothiazide in Patients With Slight Hypertension and Target Organ Damage Completed NCT00687206 Phase 4
44 Efficacy and Safety of Adding Clopidogrel to Aspirin or Use of Metoprolol in Myocardial Infarction Completed NCT00222573 Phase 4
45 High-sensitivity Troponin in Cardiac Surgery Completed NCT01913873 Phase 4
46 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
47 Ticagrelor China Pharmacokinetic/Pharmacodynamic Study Completed NCT02064985 Phase 4
48 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4
49 FREE Study - Fracture Reduction Evaluation Completed NCT00211211 Phase 4
50 The Effect of Deliberate Hypotension on QTc, Tp-e Intervals and Heart Rate Variability Completed NCT01634594 Phase 4

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation

Cochrane evidence based reviews: vascular malformations

Genetic Tests for Capillary Malformation-Arteriovenous Malformation

Genetic tests related to Capillary Malformation-Arteriovenous Malformation:

id Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation 29
2 Capillary Malformation-Arteriovenous Malformation Syndrome 24 RASA1

Anatomical Context for Capillary Malformation-Arteriovenous Malformation

MalaCards organs/tissues related to Capillary Malformation-Arteriovenous Malformation:

39
Heart

Publications for Capillary Malformation-Arteriovenous Malformation

Articles related to Capillary Malformation-Arteriovenous Malformation:

(show all 18)
id Title Authors Year
1
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. ( 28297145 )
2017
2
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. ( 26969842 )
2016
3
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases. ( 27480194 )
2016
4
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ( 26096958 )
2015
5
Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement. ( 25040073 )
2014
6
Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. ( 25040287 )
2014
7
Blood Vascular Abnormalities in Rasa1 R780Q Knockin Mice: Implications for the Pathogenesis of Capillary Malformation-Arteriovenous Malformation. ( 25283357 )
2014
8
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome. ( 25059281 )
2014
9
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. ( 24168113 )
2013
10
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. ( 23662773 )
2013
11
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. ( 24038909 )
2013
12
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. ( 23829194 )
2013
13
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. ( 23933248 )
2013
14
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. ( 23687085 )
2013
15
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation. ( 27625812 )
2012
16
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. ( 23158644 )
2012
17
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. ( 21129558 )
2010
18
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. ( 14639529 )
2003

Variations for Capillary Malformation-Arteriovenous Malformation

UniProtKB/Swiss-Prot genetic disease variations for Capillary Malformation-Arteriovenous Malformation:

66
id Symbol AA change Variation ID SNP ID
1 RASA1 p.Cys540Tyr VAR_017744 rs137853217
2 RASA1 p.Tyr528Cys VAR_072088 rs145752649
3 RASA1 p.Val530Asp VAR_072089
4 RASA1 p.Ala626Glu VAR_072090

ClinVar genetic disease variations for Capillary Malformation-Arteriovenous Malformation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RASA1 NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs) deletion Pathogenic rs797044451 GRCh37 Chromosome 5, 86564743: 86564744
2 RASA1 NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 GRCh37 Chromosome 5, 86665638: 86665638
3 RASA1 RASA1, IVS3AS, G-A, -9 single nucleotide variant Pathogenic
4 RASA1 NM_002890.2(RASA1): c.2529dupT (p.Asn844Terfs) duplication Pathogenic rs878854569 GRCh37 Chromosome 5, 86675593: 86675593
5 RASA1 NM_002890.2(RASA1): c.2909_2913dupTTTTA (p.Asp972Phefs) duplication Pathogenic rs878854570 GRCh37 Chromosome 5, 86682704: 86682708
6 RASA1 NM_002890.2(RASA1): c.613_617delCTTAT (p.Leu205Lysfs) deletion Pathogenic rs1060503441 GRCh38 Chromosome 5, 87331421: 87331425
7 RASA1 NM_002890.2(RASA1): c.1358_1359delCA (p.Thr453Serfs) deletion Pathogenic rs1060503439 GRCh38 Chromosome 5, 87362576: 87362577
8 RASA1 NM_002890.2(RASA1): c.3055C> T (p.Gln1019Ter) single nucleotide variant Likely pathogenic rs1060503440 GRCh38 Chromosome 5, 87389522: 87389522
9 RASA1 NM_002890.2(RASA1): c.2847+1G> A single nucleotide variant Likely pathogenic rs1060503438 GRCh38 Chromosome 5, 87385390: 87385390

Expression for Capillary Malformation-Arteriovenous Malformation

Search GEO for disease gene expression data for Capillary Malformation-Arteriovenous Malformation.

Pathways for Capillary Malformation-Arteriovenous Malformation

GO Terms for Capillary Malformation-Arteriovenous Malformation

Sources for Capillary Malformation-Arteriovenous Malformation

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