CMAVM1
MCID: CPL014
MIFTS: 48

Capillary Malformation-Arteriovenous Malformation 1 (CMAVM1)

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

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation 1

MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation 1:

Name: Capillary Malformation-Arteriovenous Malformation 1 56 73 29 6
Capillary Malformation-Arteriovenous Malformation 56 25 58 36 29 13 6 39
Capillary Malformation-Arteriovenous Malformation Syndrome 24 52 25
Cm-Avm Syndrome 24 52
Cmavm1 56 73
Cm-Avm 25 58
Cmavm 56 52
Capillary Malformation-Arteriovenous Malformation; Cmavm 56
Vascular Malformations 43
Vascular Malformation 17

Characteristics:

Orphanet epidemiological data:

58
capillary malformation-arteriovenous malformation
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
in most cases capillary lesions are multifocal at birth and may increase in number with age


HPO:

31
capillary malformation-arteriovenous malformation 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Ephb4. penetrance of ephb4-cm-avm syndrome was reported to be 93% (102 of 110 individuals) in one study by amyere et al [2017]....

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 608354
OMIM Phenotypic Series 56 PS608354
KEGG 36 H02043
MeSH 43 D054079
ICD10 via Orphanet 33 Q27.3
UMLS via Orphanet 72 C1842180
Orphanet 58 ORPHA137667

Summaries for Capillary Malformation-Arteriovenous Malformation 1

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. CM-AVM is characterized by capillary malformations (CMs), which are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like multiple small, round, pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, arms, and legs. These spots may be visible from birth or may develop during childhood. By themselves, capillary malformations usually do not cause any health problems. In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, and capillaries that affect blood circulation. Depending on where they occur in the body, these abnormalities can be associated with complications including abnormal bleeding, migraine headaches, seizures, and heart failure. In some cases the complications can be life-threatening. In people with CM-AVM, complications of AVMs and AVFs tend to appear in infancy or early childhood; however, some of these vascular abnormalities never cause any symptoms. Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.

MalaCards based summary : Capillary Malformation-Arteriovenous Malformation 1, also known as capillary malformation-arteriovenous malformation, is related to parkes weber syndrome and weber syndrome. An important gene associated with Capillary Malformation-Arteriovenous Malformation 1 is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are MAPK signaling pathway and Axon guidance. The drugs Sodium sulfate and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and heart, and related phenotypes are arteriovenous malformation and capillary hemangioma

OMIM : 56 Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (Eerola et al., 2003; Revencu et al., 2013; Johnson and Navarro, 2017). Parkes Weber syndrome is characterized by a cutaneous blush with underling multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988). (608354)

KEGG : 36 Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth, and are progressive, round to oval, pink or red, and with a pale halo.

UniProtKB/Swiss-Prot : 73 Capillary malformation-arteriovenous malformation 1: 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. CMAVM1 inheritance is autosomal dominant.

GeneReviews: NBK52764

Related Diseases for Capillary Malformation-Arteriovenous Malformation 1

Diseases in the Capillary Malformation-Arteriovenous Malformation 1 family:

Capillary Malformation-Arteriovenous Malformation 2

Diseases related to Capillary Malformation-Arteriovenous Malformation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 509)
# Related Disease Score Top Affiliating Genes
1 parkes weber syndrome 31.9 RASA1 CCNH
2 weber syndrome 29.7 RASA1 CCNH
3 capillary malformation-arteriovenous malformation 2 13.1
4 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 12.8
5 vascular malformation, primary intraosseous 12.7
6 complex vascular malformation with associated anomalies 12.4
7 simple vascular malformation 12.2
8 genetic complex vascular malformation with associated anomalies 12.2
9 rare combined vascular malformation 12.2
10 rare vascular malformation of major vessels 12.2
11 cerebral cavernous malformations 11.7
12 proteus syndrome 11.6
13 phacomatosis pigmentovascularis 11.6
14 dieulafoy lesion 11.6
15 noonan syndrome 1 11.6
16 angiodysplasia 11.5
17 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
18 arteriovenous malformations of the brain 11.4
19 hemangioma, capillary infantile 11.4
20 superficial siderosis 11.4
21 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.0
22 athabaskan brainstem dysgenesis syndrome 11.0
23 extracranial arteriovenous malformation 11.0
24 hypertrophic olivary degeneration 11.0
25 kaposiform lymphangiomatosis 11.0
26 regional odontodysplasia 11.0
27 arteriovenous malformation 10.9
28 hereditary hemorrhagic telangiectasia 10.5
29 aneurysm 10.4
30 telangiectasis 10.3
31 posttransplant acute limbic encephalitis 10.3
32 cavernous malformation 10.3
33 cavernous hemangioma 10.3
34 sturge-weber syndrome 10.3
35 hereditary lymphedema i 10.3
36 hemangioma 10.3
37 overgrowth syndrome 10.3
38 hydrocephalus 10.2
39 cerebral aneurysms 10.2
40 varicose veins 10.2
41 portal hypertension 10.1
42 seizure disorder 10.1
43 rare lymphatic malformation 10.1
44 visual epilepsy 10.1
45 alagille syndrome 1 10.1
46 klippel-trenaunay-weber syndrome 10.1
47 capillary malformations, congenital 10.1
48 hydrops fetalis, nonimmune 10.1
49 cholestasis 10.1
50 lymphangioma 10.1

Graphical network of the top 20 diseases related to Capillary Malformation-Arteriovenous Malformation 1:



Diseases related to Capillary Malformation-Arteriovenous Malformation 1

Symptoms & Phenotypes for Capillary Malformation-Arteriovenous Malformation 1

Human phenotypes related to Capillary Malformation-Arteriovenous Malformation 1:

31
# Description HPO Frequency HPO Source Accession
1 arteriovenous malformation 31 HP:0100026
2 capillary hemangioma 31 HP:0005306
3 arteriovenous fistula 31 HP:0004947

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
arteriovenous malformation
arteriovenous fistulas (intracranial, in the spine, or on the face or extremities, but not in liver or lung)

Skin Nails Hair Skin:
capillary malformations, commonly on face or neck, rarely on mucosa
maculae can be a few millimeters to several centimeters in diameter and can be surrounded by pale halo with punctate red spot in middle
maculae are homogeneous or telangiectatic and may vary in color from pale pink to red, purple or brown

Clinical features from OMIM:

608354

GenomeRNAi Phenotypes related to Capillary Malformation-Arteriovenous Malformation 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 CCNH RASA1

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation 1

Drugs for Capillary Malformation-Arteriovenous Malformation 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
2
Bevacizumab Approved, Investigational Phase 4 216974-75-3
3
Timolol Approved Phase 4 26839-75-8 5478 33624
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
6
Thrombin Approved, Investigational Phase 4
7
Captopril Approved Phase 4 62571-86-2 44093
8
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
10
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
11
Propranolol Approved, Investigational Phase 4 525-66-6 4946
12
Maleic acid Experimental, Investigational Phase 4 110-17-8, 110-16-7 444972
13 Angiogenesis Inhibitors Phase 4
14 Neurotransmitter Agents Phase 4
15 Pharmaceutical Solutions Phase 4
16 Ophthalmic Solutions Phase 4
17 Antineoplastic Agents, Immunological Phase 4
18 Antihypertensive Agents Phase 4
19 Adrenergic Agents Phase 4
20 Hemostatics Phase 4
21 Coagulants Phase 4
22 Fibrin Tissue Adhesive Phase 4
23
protease inhibitors Phase 4
24 Angiotensin-Converting Enzyme Inhibitors Phase 4
25 HIV Protease Inhibitors Phase 4
26 Anti-Infective Agents Phase 4
27 Anti-Bacterial Agents Phase 4
28 Antibiotics, Antitubercular Phase 4
29 Antifungal Agents Phase 4
30 Adrenergic beta-Antagonists Phase 4
31 Adrenergic Antagonists Phase 4
32 Anti-Arrhythmia Agents Phase 4
33 Vasodilator Agents Phase 4
34
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
35
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
36
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
37 Antineoplastic Agents, Hormonal Phase 2, Phase 3
38 Gastrointestinal Agents Phase 2, Phase 3
39 Adrenergic alpha-Agonists Phase 3
40 Adrenergic Agonists Phase 3
41 Brimonidine Tartrate Phase 3 70359-46-5
42
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
43
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 5248 14492
44
Ferrous succinate Approved Phase 2 10030-90-7
45
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
46
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
47
Pasireotide Approved Phase 2 396091-73-9 9941444
48
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
49
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
50
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 115)
# Name Status NCT ID Phase Drugs
1 Compare the Effect of Bleomycin and Tetradecyl Sodium Sulphate in the Treatment of Venous Malformations Unknown status NCT01347294 Phase 4 Bleomycin;Fibrovein;Bleomycin + Fibrovein
2 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4 Danhong Injection;Normal Saline
3 Comparison of Two Methods of Administration of a PEG Solution During Bowel Preparation for Colonoscopy in Hospitalized Patients Completed NCT00626054 Phase 4 PEG solution in a single dose of 3 liters;PEG solution
4 Intranasal Bevacizumab for HHT-Related Epistaxis Recruiting NCT02389959 Phase 4 Bevacizumab;Placebo (Saline)
5 Safety and Efficacy of Low-dose Sirolimus to Kaposiform Hemangioendothelioma:A Prospective, Randomized Open Trial Recruiting NCT04077515 Phase 4 Sirolimus(0.8mg/m2);Sirolimus(0.7mg/m2)
6 A Prospective Randomized Controlled Study Evaluating the Safety and Efficacy of EVICEL® Used for Suture-Line Sealing in Dura-Mater Closure During Paediatric Neurosurgical Cranial Procedures Recruiting NCT02309645 Phase 4
7 Evaluation of the Efficacy of Captopril Versus Propranolol and Timolol as a Treatment of Infantile Capillary Hemangioma Recruiting NCT04288700 Phase 4 oral propranolol;Oral Captopril;intralesional propranolol injection;topical Timolol maleate 0.5% eye drops
8 Sirolimus in the Treatment for Propranolol-resistant Infantile Hepatic Hemangioendothelioma Not yet recruiting NCT04406870 Phase 4 Sirolimus Oral Product;propranolol
9 A Multicenter, Randomized, Open-label Clinical Trial Assessing the Efficacy of Octreotide in Decreasing Blood and Iron Requirements in Patients With Refractory Anaemia Due to Angiodysplasias Unknown status NCT02384122 Phase 2, Phase 3 Octreotide
10 Clinical Study on Efficacy and Safety of the mTor Rapamycin Inhibitor Found in the Complex Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus
11 A Prospective, Randomized, Controlled, Single Blinded, Study to Evaluate the Safety and Effectiveness of Bioseal as an Adjunct to Sutured Dural Repair Completed NCT03110783 Phase 3
12 the Efficacy of Thalidomide for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation: a Prospective Multi-center Randomized Controlled Clinical Trial Recruiting NCT02707484 Phase 3 Thalidomide (100mg);Thalidomide (50mg);placebo
13 Phase III Multicentric Study Evaluating the Efficacy and Safety of Sirolimus in Vascular Anomalies That Are Refractory to Standard Care Recruiting NCT02638389 Phase 3 Sirolimus
14 Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life Recruiting NCT03987152 Phase 3 Sirolimus
15 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations: A Prospective, Open-label, Cohort Study Terminated NCT02764411 Phase 3 Brimonidine 0.33% gel
16 Electrosclerotherapy as a Novel Treatment Option for Capillary Malformations: A Pilot Study Unknown status NCT02883023 Phase 2 Intralesional bleomycin injection
17 A Phase 2 Study - Clinical Trial Assessing Efficacy and Safety of the mTOR Inhibitor Sirolimus in the Treatment of Complicated Vascular Anomalies Unknown status NCT00975819 Phase 2 sirolimus
18 Cryoablation of Venous Vascular Malformations Located in Soft Tissues Completed NCT01845935 Phase 1, Phase 2
19 Treatment of Superficial Voluminous Complicated Slow-flow Vascular Malformations With Sirolimus: a Phase 2 Trial in Children Observational-phase Designed Completed NCT02509468 Phase 2 Sirolimus
20 Long-term Effects of Thalidomide for Recurrent Gastrointestinal Bleeding Due to Vascular Malformation : An Open-label, Randomized, Parallel Controlled Study Completed NCT00964496 Phase 2 Thalidomide;Iron
21 Efficacy and Safety of Bevacizumab for the Treatment Hemorrhagic Hereditary Telangiectasia (HHT) Associated With Severe Hepatic Vascular Malformations. Phase II Study. Completed NCT00843440 Phase 2 Bevacizumab
22 An Investigational Pilot Study to Evaluate Sildenafil for the Treatment of Lymphatic Malformations Completed NCT01290484 Phase 1, Phase 2 Sildenafil
23 Laser Atraumatic Treatment Of Ectasias On Vocal Cords Completed NCT00592644 Phase 2
24 Phase II, Randomized, Triple Blind, Intra-individually Placebo-controlled Clinical Trial to Assess the Efficacy and Safety of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome. Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
25 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
26 The Efficacy of Minoxidil in Children With Williams-Beuren Syndrome: a Randomized Clinical Trial. Completed NCT00876200 Phase 2 Minoxidil;Placebo
27 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
28 Randomized Phase II Trial Evaluating the Efficiency of Pasireotide for the Treatment of Gastrointestinal Angiodysplasia in Endoscopic Treatment Failure Completed NCT02622906 Phase 2 Pasireotide;Placebo
29 A Phase II, Randomized Controlled Trial of Recombinant Human Growth Hormone During Rehabilitation From Traumatic Brain Injury. Completed NCT00766038 Phase 2 Recombinant human Growth Hormone;Placebo
30 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
31 0.1% Topical Sirolimus in the Treatment of Cutaneous Microcystic Lymphatic Malformations in Children and Adults: Phase II, Split-body Randomized, Double-blind, Vehicle-controlled Clinical Trial Recruiting NCT03972592 Phase 2 Topical 0.1% Sirolimus;Topical Vehicle
32 TOPical Sirolimus in linGUal Microcystic Lymphatic Malformation -TOPGUN Active, not recruiting NCT04128722 Phase 2 Sirolimus Oral Liquid Product 1mg/mL
33 The Effects of Aldara as an Adjunct to Laser Treatment of Port Wine Stains Terminated NCT00979550 Phase 2 Imiquimod;non-medicated petroleum cream
34 A Randomised, Double-blind, Placebo-controlled Study of Thalidomide in Gastrointestinal Vascular Malformation Related Bleeding Withdrawn NCT02754960 Phase 2 Thalidomide;Placebo
35 The Study of the Optimal Treatment Strategy for Patients With Gastrointestinal Bleeding Due to Gastrointestinal Vascular Malformation: a Randomized, Double Blind, Placebo Controlled Study Withdrawn NCT02301949 Phase 2 Thalidomide
36 Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome Withdrawn NCT02569125 Phase 2 Everolimus
37 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
38 Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks: Comparison of 577 nm Versus 595 nm Wavelengths Completed NCT00573729 Phase 1
39 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia Completed NCT02977637 Phase 1
40 Phase I Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Marimastat in Patients With Disabling Malformations and No Other Treatment Options Completed NCT00261391 Phase 1 Marimastat
41 Novel Treatment for Port Wine Stain Birthmarks Completed NCT01924273 Phase 1 Talaporfin sodium
42 Combination Therapy for the Treatment of Erythematotelangiectatic Rosacea Completed NCT00945373 Phase 1 calcium dobesilate
43 Percutaneous Sclerotherapy of Symptomatic Liver Hemangioma With Bleomycin Recruiting NCT03649113 Phase 1
44 Treatment Protocol for the Use of the Topical Rapamycin/Sirolimus for Complicated Vascular Anomalies and Other Susceptible Lesions Not yet recruiting NCT04172922 Phase 1 Topical Sirolimus
45 Pilot Study on the Use of the Matrix Radiofrequency for Treatment of Port Wine Stain Birthmarks Withdrawn NCT01166919 Phase 1
46 Combined Alexandrite and Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks Withdrawn NCT00580944 Phase 1
47 Development and Validation of a Specific Scale of Life'Quality for Children With Low-flow Vascular Malformations Aged 11 to 15 Years-old. Unknown status NCT03440827
48 An Observational Study as to the Effects of Cutaneous Air-cooling on Blood Vessel Diameter in Capillary Malformations Unknown status NCT01735734
49 Phase I/II Combinational Investigational New Drug Application: Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Unknown status NCT00833599 NIRFLI with ICG
50 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Unknown status NCT01689402

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation 1

Cochrane evidence based reviews: vascular malformations

Genetic Tests for Capillary Malformation-Arteriovenous Malformation 1

Genetic tests related to Capillary Malformation-Arteriovenous Malformation 1:

# Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation 1 29 RASA1
2 Capillary Malformation-Arteriovenous Malformation 29

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 1

MalaCards organs/tissues related to Capillary Malformation-Arteriovenous Malformation 1:

40
Brain, Skin, Heart, Liver, Endothelial, Small Intestine, Eye

Publications for Capillary Malformation-Arteriovenous Malformation 1

Articles related to Capillary Malformation-Arteriovenous Malformation 1:

(show top 50) (show all 109)
# Title Authors PMID Year
1
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. 56 6 24 61
18363760 2008
2
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 61 6 24 56
14639529 2003
3
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 56 24 61
24038909 2013
4
Capillary Malformation-Arteriovenous Malformation Syndrome 61 6
21348050 2011
5
RASA1: variable phenotype with capillary and arteriovenous malformations. 56 61
15917201 2005
6
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 24 61
30760892 2019
7
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. 61 24
29891884 2018
8
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 24 61
29444212 2018
9
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. 24 61
29110021 2018
10
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. 61 24
29024832 2018
11
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 61 24
28687708 2017
12
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations. 56
28779187 2017
13
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. 61 24
26969842 2016
14
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 24 61
26499346 2016
15
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. 24 61
26096958 2015
16
Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. 24 61
25040287 2015
17
Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome. 24 61
23829194 2015
18
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. 24 61
23933248 2013
19
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. 61 24
23662773 2013
20
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. 24 61
23687085 2013
21
Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. 61 24
23650393 2013
22
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. 24 61
23801933 2013
23
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 24 61
21626678 2011
24
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 24 61
18446851 2008
25
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. 56
12080389 2002
26
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. 56
10814716 2000
27
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. 56
9989629 1999
28
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 24
29905864 2018
29
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 24
27400125 2016
30
Timing, rates and spectra of human germline mutation. 24
26656846 2016
31
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). 24
26268729 2016
32
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. 24
23656586 2013
33
Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis. 24
23165854 2012
34
EphB4 promotes or suppresses Ras/MEK/ERK pathway in a context-dependent manner: Implications for EphB4 as a cancer target. 24
22555806 2012
35
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 24
22670137 2012
36
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. 24
22342634 2012
37
RASA1 analysis: clinical and molecular findings in a series of consecutive cases. 24
22200646 2012
38
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome. 24
20821215 2011
39
A novel association between RASA1 mutations and spinal arteriovenous anomalies. 24
20007727 2010
40
A novel mutation in RASA1 causes capillary malformation and limb enlargement. 24
18327598 2008
41
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. 24
18216519 2008
42
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 24
17526801 2007
43
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 24
17392703 2007
44
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). 24
11845407 2002
45
Roles of ephrinB ligands and EphB receptors in cardiovascular development: demarcation of arterial/venous domains, vascular morphogenesis, and sprouting angiogenesis. 24
9990854 1999
46
Role of colour-Doppler high-frequency ultrasonography in capillary malformation-arteriovenous malformation syndrome: a case series. 61
32363619 2020
47
A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement. 61
32485551 2020
48
Histopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome. 61
32124491 2020
49
Good response to pulsed dye laser in patients with capillary malformation-arteriovenous malformation syndrome (CM-AVM). 61
31944370 2020
50
Pediatric intracranial arteriovenous shunts: Advances in diagnosis and treatment. 61
31996298 2020

Variations for Capillary Malformation-Arteriovenous Malformation 1

ClinVar genetic disease variations for Capillary Malformation-Arteriovenous Malformation 1:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RASA1 NM_002890.3(RASA1):c.613_617del (p.Leu205fs)deletion Pathogenic 411714 rs1060503441 5:86627234-86627238 5:87331417-87331421
2 RASA1 NM_002890.3(RASA1):c.1356_1357CA[1] (p.Thr453fs)short repeat Pathogenic 411712 rs1060503439 5:86658390-86658391 5:87362573-87362574
3 RASA1 NC_000005.10:g.(?_87268432)_(87353255_?)deldeletion Pathogenic 464851 5:87268432-87353255
4 RASA1 NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter)SNV Pathogenic 464861 rs1554050230 5:86679546-86679546 5:87383729-87383729
5 RASA1 NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter)SNV Pathogenic 464854 rs747745016 5:86665678-86665678 5:87369861-87369861
6 RASA1 NM_002890.3(RASA1):c.2557dup (p.Ser853fs)duplication Pathogenic 464859 rs1554049825 5:86675618-86675619 5:87379801-87379802
7 RASA1 NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)SNV Pathogenic 464870 rs1554044823 5:86627281-86627281 5:87331464-87331464
8 RASA1 NM_002890.3(RASA1):c.2873del (p.Pro958fs)deletion Pathogenic 464864 rs1554050584 5:86682667-86682667 5:87386850-87386850
9 RASA1 NM_002890.3(RASA1):c.261_262del (p.Gly89fs)deletion Pathogenic 503721 rs1384480619 5:86564529-86564530 5:87268712-87268713
10 RASA1 NM_002890.3(RASA1):c.1024dup (p.Glu342fs)duplication Pathogenic 523621 rs1554045819 5:86637110-86637111 5:87341293-87341294
11 RASA1 NM_002890.3(RASA1):c.2603+1G>ASNV Pathogenic 533449 rs983011713 5:86675668-86675668 5:87379851-87379851
12 RASA1 NM_002890.3(RASA1):c.2333dup (p.Ser779fs)duplication Pathogenic 565616 rs1347210621 5:86672845-86672846 5:87377028-87377029
13 RASA1 NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)SNV Pathogenic 565648 rs1204340475 5:86672758-86672758 5:87376941-87376941
14 RASA1 NM_002890.3(RASA1):c.2864_2865GT[1] (p.Val956fs)short repeat Pathogenic 582697 rs1561331089 5:86682659-86682660 5:87386842-87386843
15 RASA1 NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter)SNV Pathogenic 581667 rs1561333645 5:86685327-86685327 5:87389510-87389510
16 RASA1 NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter)SNV Pathogenic 618858 rs975191415 5:86648999-86648999 5:87353182-87353182
17 RASA1 NC_000005.10:g.(?_87268442)_(87353245_?)deldeletion Pathogenic 655225 5:86564259-86649062 5:87268442-87353245
18 RASA1 NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter)SNV Pathogenic 652988 5:86645120-86645120 5:87349303-87349303
19 RASA1 NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)duplication Pathogenic 854189 5:86627201-86627202 5:87331384-87331385
20 RASA1 NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)SNV Pathogenic 838893 5:86642491-86642491 5:87346674-87346674
21 RASA1 NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs)deletion Pathogenic 857947 5:86645091-86645092 5:87349274-87349275
22 RASA1 NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)SNV Pathogenic 853434 5:86645150-86645150 5:87349333-87349333
23 RASA1 NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)duplication Pathogenic 839046 5:86674269-86674270 5:87378452-87378453
24 RASA1 NM_002890.3(RASA1):c.471_472CT[2] (p.Leu159fs)short repeat Pathogenic 15999 rs797044451 5:86564739-86564740 5:87268922-87268923
25 RASA1 NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr)SNV Pathogenic 16000 rs137853217 5:86665638-86665638 5:87369821-87369821
26 RASA1 NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)SNV Pathogenic 16001 rs137853218 5:86629108-86629108 5:87333291-87333291
27 RASA1 NM_002890.3(RASA1):c.829-9G>ASNV Pathogenic 16002 5:86629075-86629075 5:87333258-87333258
28 RASA1 NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs)duplication Pathogenic 16003 5:86672764-86672765 5:87376947-87376948
29 RASA1 NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)SNV Pathogenic 213660 rs863223718 5:86672329-86672329 5:87376512-87376512
30 RASA1 NM_002890.3(RASA1):c.2529dup (p.Asn844Ter)duplication Pathogenic 239412 rs878854569 5:86675592-86675593 5:87379775-87379776
31 RASA1 NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer)duplication Pathogenic 239413 rs878854570 5:86682703-86682704 5:87386886-87386887
32 RASA1 NM_002890.3(RASA1):c.2698_2701del (p.Val900fs)deletion Pathogenic 279880 rs886041232 5:86679534-86679537 5:87383717-87383720
33 RASA1 NM_002890.3(RASA1):c.1777-2A>TSNV Likely pathogenic 858307 5:86669978-86669978 5:87374161-87374161
34 RASA1 NM_002890.3(RASA1):c.1934+2T>GSNV Likely pathogenic 851184 5:86670139-86670139 5:87374322-87374322
35 RASA1 NM_002890.3(RASA1):c.693-6_711deldeletion Likely pathogenic 856732 5:86628318-86628342 5:87332501-87332525
36 RASA1 NM_002890.3(RASA1):c.1698+2T>CSNV Likely pathogenic 572119 rs1561316757 5:86665719-86665719 5:87369902-87369902
37 RASA1 NC_000005.10:g.(?_87390790)_(87390893_?)deldeletion Likely pathogenic 650189 5:86686607-86686710 5:87390790-87390893
38 RASA1 NM_002890.3(RASA1):c.1935-3T>GSNV Likely pathogenic 533451 rs201249348 5:86670654-86670654 5:87374837-87374837
39 RASA1 NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)deletion Likely pathogenic 464866 rs1554051094 5:86686662-86686665 5:87390845-87390848
40 RASA1 NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)SNV Likely pathogenic 411713 rs1060503440 5:86685339-86685339 5:87389522-87389522
41 RASA1 NM_002890.3(RASA1):c.2847+1G>ASNV Likely pathogenic 411711 rs1060503438 5:86681207-86681207 5:87385390-87385390
42 RASA1 NM_002890.3(RASA1):c.2926-8C>TSNV Conflicting interpretations of pathogenicity 284668 rs369251473 5:86685202-86685202 5:87389385-87389385
43 RASA1 NM_002890.3(RASA1):c.1305T>C (p.Tyr435=)SNV Conflicting interpretations of pathogenicity 354515 rs778801311 5:86649025-86649025 5:87353208-87353208
44 RASA1 NM_002890.3(RASA1):c.*852A>GSNV Conflicting interpretations of pathogenicity 354544 rs182603054 5:86687552-86687552 5:87391735-87391735
45 RASA1 NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)SNV Conflicting interpretations of pathogenicity 354525 rs138785106 5:86675667-86675667 5:87379850-87379850
46 RASA1 NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)SNV Conflicting interpretations of pathogenicity 354519 rs145752649 5:86659294-86659294 5:87363477-87363477
47 RASA1 NM_002890.3(RASA1):c.2608T>C (p.Leu870=)SNV Conflicting interpretations of pathogenicity 354526 rs372498033 5:86676330-86676330 5:87380513-87380513
48 RASA1 NM_002890.3(RASA1):c.*476T>GSNV Conflicting interpretations of pathogenicity 354538 rs543819845 5:86687176-86687176 5:87391359-87391359
49 RASA1 NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)SNV Conflicting interpretations of pathogenicity 354510 rs769463654 5:86564675-86564675 5:87268858-87268858
50 RASA1 NM_002890.3(RASA1):c.*16T>CSNV Conflicting interpretations of pathogenicity 354531 rs770822619 5:86686716-86686716 5:87390899-87390899

UniProtKB/Swiss-Prot genetic disease variations for Capillary Malformation-Arteriovenous Malformation 1:

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# Symbol AA change Variation ID SNP ID
1 RASA1 p.Cys540Tyr VAR_017744 rs137853217
2 RASA1 p.Val530Asp VAR_072089
3 RASA1 p.Ala626Glu VAR_072090

Expression for Capillary Malformation-Arteriovenous Malformation 1

Search GEO for disease gene expression data for Capillary Malformation-Arteriovenous Malformation 1.

Pathways for Capillary Malformation-Arteriovenous Malformation 1

Pathways related to Capillary Malformation-Arteriovenous Malformation 1 according to KEGG:

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# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Axon guidance hsa04360

GO Terms for Capillary Malformation-Arteriovenous Malformation 1

Sources for Capillary Malformation-Arteriovenous Malformation 1

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