CMAVM1
MCID: CPL014
MIFTS: 46

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 57 74
Capillary Malformation-Arteriovenous Malformation 57 25 59 37 29 13 6 40
Capillary Malformation-Arteriovenous Malformation Syndrome 53 25
Cmavm1 57 74
Cm-Avm 25 59
Cmavm 57 53
Capillary Malformation-Arteriovenous Malformation; Cmavm 57
Vascular Malformations 44
Vascular Malformation 17
Cm-Avm Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
capillary malformation-arteriovenous malformation
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
capillary malformation-arteriovenous malformation 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

KEGG 37 H02043
MeSH 44 D054079
ICD10 via Orphanet 34 Q27.3
UMLS via Orphanet 73 C1842180
Orphanet 59 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 capillary malformation-arteriovenous malformation 2 and congenital lipomatous overgrowth, vascular malformations, and epidermal nevi. An important gene associated with Capillary Malformation-Arteriovenous Malformation 1 is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways is MAPK signaling pathway. 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 : 57 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 : 37
Capillary malformation-arteriovenous malformation (CM-AVM) 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 : 74 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.

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 514)
# Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 2 13.1
2 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 12.8
3 vascular malformation, primary intraosseous 12.7
4 complex vascular malformation with associated anomalies 12.3
5 genetic complex vascular malformation with associated anomalies 12.3
6 simple vascular malformation 12.2
7 rare combined vascular malformation 12.2
8 rare vascular malformation of major vessels 12.2
9 obsolete: palpebral tumor with a vascular malformation 12.2
10 parkes weber syndrome 11.9
11 cerebral cavernous malformations 11.7
12 proteus syndrome 11.6
13 noonan syndrome 1 11.5
14 phacomatosis pigmentovascularis 11.5
15 dieulafoy lesion 11.5
16 angiodysplasia 11.5
17 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
18 hemangioma, capillary infantile 11.4
19 cerebral cavernous malformation, familial 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 rasa1-related disorders 10.6
29 weber syndrome 10.5
30 hereditary hemorrhagic telangiectasia 10.5
31 aneurysm 10.4
32 capillary malformations, congenital 10.3
33 telangiectasis 10.3
34 posttransplant acute limbic encephalitis 10.3
35 cavernous malformation 10.3
36 cavernous hemangioma 10.3
37 sturge-weber syndrome 10.3
38 hemangioma 10.3
39 overgrowth syndrome 10.3
40 hydrocephalus 10.2
41 congenital hydrocephalus 10.2
42 cerebral aneurysms 10.2
43 varicose veins 10.2
44 lymphangioma 10.1
45 seizure disorder 10.1
46 rare lymphatic malformation 10.1
47 portal hypertension 10.1
48 visual epilepsy 10.1
49 klippel-trenaunay-weber syndrome 10.1
50 hydrops fetalis, nonimmune 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:

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

Symptoms via clinical synopsis from OMIM:

57
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

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 99)
# 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
Thrombin Approved, Investigational Phase 4
4 Angiogenesis Inhibitors Phase 4
5 Angiogenesis Modulating Agents Phase 4
6 Coagulants Phase 4
7 Hemostatics Phase 4
8 Antineoplastic Agents, Immunological Phase 4
9 Pharmaceutical Solutions Phase 4
10 Fibrin Tissue Adhesive Phase 4
11
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 23925 27284
12
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
13
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
14 Gastrointestinal Agents Phase 2, Phase 3
15 Antineoplastic Agents, Hormonal Phase 2, Phase 3
16 Neurotransmitter Agents Phase 3
17 Antihypertensive Agents Phase 3
18 Adrenergic Agents Phase 3
19 Adrenergic alpha-2 Receptor Agonists Phase 3
20 Adrenergic Agonists Phase 3
21 Adrenergic alpha-Agonists Phase 3
22 Brimonidine Tartrate Phase 3 70359-46-5
23
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
24
Sodium Tetradecyl Sulfate Approved, Investigational Phase 1, Phase 2 1191-50-0, 139-88-8 5248 14492
25
Ferrous succinate Approved Phase 2 10030-90-7
26
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
27
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
28
Pasireotide Approved Phase 2 396091-73-9 9941444
29
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
30
Ethanol Approved Phase 2 64-17-5 702
31
tannic acid Approved Phase 2 1401-55-4
32
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
33
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
34
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
35 Anesthetics Phase 1, Phase 2
36 Hematinics Phase 2
37 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
38 Citrate Phase 1, Phase 2
39 Phosphodiesterase Inhibitors Phase 1, Phase 2
40 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
41 Vasodilator Agents Phase 1, Phase 2
42 Hormones Phase 2
43 Hormone Antagonists Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
45 Estrogens Phase 2
46 Antimalarials Phase 2
47 Antiparasitic Agents Phase 2
48 Antiprotozoal Agents Phase 2
49 Adjuvants, Immunologic Phase 2
50 interferons Phase 2

Interventional clinical trials:

(show top 50) (show all 104)
# 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 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
6 Clinical Study on Efficacy and Safety of the mTor Rapamycin Inhibitor Found in the Complex Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus
7 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
8 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
9 Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life Recruiting NCT03987152 Phase 3 Sirolimus
10 A Prospective, Randomized, Controlled, Single Blinded, Study to Evaluate the Safety and Effectiveness of Bioseal as an Adjunct to Sutured Dural Repair Recruiting NCT03110783 Phase 3
11 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 Recruiting NCT02384122 Phase 2, Phase 3 Octreotide
12 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations: A Prospective, Open-label, Cohort Study Terminated NCT02764411 Phase 3 Brimonidine 0.33% gel
13 Electrosclerotherapy as a Novel Treatment Option for Capillary Malformations: A Pilot Study Unknown status NCT02883023 Phase 2 Intralesional bleomycin injection
14 Cryoablation of Venous Vascular Malformations Located in Soft Tissues Completed NCT01845935 Phase 1, Phase 2
15 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
16 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
17 An Investigational Pilot Study to Evaluate Sildenafil for the Treatment of Lymphatic Malformations Completed NCT01290484 Phase 1, Phase 2 Sildenafil
18 Laser Atraumatic Treatment Of Ectasias On Vocal Cords Completed NCT00592644 Phase 2
19 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
20 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
21 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia Completed NCT01408732 Phase 1, Phase 2 Sclerotherapy
22 The Efficacy of Minoxidil in Children With Williams-Beuren Syndrome: a Randomized Clinical Trial. Completed NCT00876200 Phase 2 Minoxidil;Placebo
23 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
24 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
25 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
26 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870 Phase 2
27 Treatment of Superficial Voluminous Complicated Slow-flow Vascular Malformations With Sirolimus: a Phase 2 Trial in Children Observational-phase Designed Active, not recruiting NCT02509468 Phase 2 Sirolimus
28 A Phase 2 Study - Clinical Trial Assessing Efficacy and Safety of the mTOR Inhibitor Sirolimus in the Treatment of Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
29 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 Not yet recruiting NCT03972592 Phase 2 Topical 0.1% Sirolimus;Topical Vehicle
30 The Effects of Aldara as an Adjunct to Laser Treatment of Port Wine Stains Terminated NCT00979550 Phase 2 Imiquimod;non-medicated petroleum cream
31 A Randomised, Double-blind, Placebo-controlled Study of Thalidomide in Gastrointestinal Vascular Malformation Related Bleeding Withdrawn NCT02754960 Phase 2 Thalidomide;Placebo
32 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
33 Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome Withdrawn NCT02569125 Phase 2 Everolimus
34 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
35 Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks: Comparison of 577 nm Versus 595 nm Wavelengths Completed NCT00573729 Phase 1
36 The Use of Ferumoxytol (Feraheme) for Whole Body Magnetic Resonance Angiography in Hereditary Hemorrhagic Telangiectasia Completed NCT02977637 Phase 1
37 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
38 Novel Treatment for Port Wine Stain Birthmarks Completed NCT01924273 Phase 1 Talaporfin sodium
39 Combination Therapy for the Treatment of Erythematotelangiectatic Rosacea Completed NCT00945373 Phase 1 calcium dobesilate
40 Percutaneous Sclerotherapy of Symptomatic Liver Hemangioma With Bleomycin Active, not recruiting NCT03649113 Phase 1
41 Pilot Study on the Use of the Matrix Radiofrequency for Treatment of Port Wine Stain Birthmarks Withdrawn NCT01166919 Phase 1
42 Combined Alexandrite and Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks Withdrawn NCT00580944 Phase 1
43 An Observational Study as to the Effects of Cutaneous Air-cooling on Blood Vessel Diameter in Capillary Malformations Unknown status NCT01735734
44 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Unknown status NCT01689402
45 Neurologic and Neurophysiologic Assessment of Clinical Course in Patients With Intraspinal Processes Unknown status NCT01105520
46 Anatomical Clinical Correlations. Neuropsychological and Brain Medical Imaging Study in Brain Damaged Subjects. Unknown status NCT01849549
47 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916
48 The Angioma's Treatment Evaluation With Laser Doppler Imaging (LDI) Unknown status NCT01759082
49 MRI & MRV in Pelvic Congestion Syndrome in Females Unknown status NCT03252041
50 The Research of Etiology and Risk Factors Related to Prognosis of Intracerebral Hemorrhage in Beijing Unknown status NCT02350010

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 29 RASA1

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 1

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

41
Brain, Skin, Heart, Liver, Endothelial, Small Intestine, Bone

Publications for Capillary Malformation-Arteriovenous Malformation 1

Articles related to Capillary Malformation-Arteriovenous Malformation 1:

(show top 50) (show all 83)
# Title Authors PMID Year
1
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. 38 8 71
18363760 2008
2
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 38 8 71
14639529 2003
3
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 38 8
24038909 2013
4
RASA1: variable phenotype with capillary and arteriovenous malformations. 38 8
15917201 2005
5
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations. 8
28779187 2017
6
RASA1-Related Disorders 71
21348050 2011
7
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. 8
12080389 2002
8
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. 8
10814716 2000
9
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. 8
9989629 1999
10
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. 38
31300548 2019
11
Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation. 38
31230861 2019
12
Capillary Malformation-Arteriovenous Malformation Syndrome. 38
31017636 2019
13
RASA1-dependent cellular export of collagen IV controls blood and lymphatic vascular development. 38
31185000 2019
14
Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature. 38
30526434 2019
15
Pathogenesis of Growth Failure in Rasopathies. 38
31115196 2019
16
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient. 38
30953504 2019
17
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation. 38
30635911 2019
18
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family. 38
30507091 2019
19
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 38
30760892 2019
20
RASopathy in Patients With Isolated Sagittal Synostosis. 38
31192281 2019
21
RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation. 38
30368862 2018
22
[New insight of craniofacial and oral findings of the RASopathies]. 38
30522213 2018
23
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. 38
29891884 2018
24
RAS signalling in energy metabolism and rare human diseases. 38
29750912 2018
25
Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM). 38
30056992 2018
26
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 38
29444212 2018
27
Human genetics and molecular mechanisms of vein of Galen malformation. 38
29350590 2018
28
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome. 38
28295764 2018
29
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. 38
29110021 2018
30
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia. 38
30026675 2018
31
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. 38
29024832 2018
32
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. 38
29120072 2018
33
Clinical and genetic findings in children with central nervous system arteriovenous fistulas. 38
29171923 2017
34
Rhodoid naevus syndrome: why is this name preferable to 'capillary malformation-arteriovenous malformation'? 38
28401589 2017
35
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 38
28687708 2017
36
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 38
28730721 2017
37
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 38
28650561 2017
38
A review of craniofacial and dental findings of the RASopathies. 38
28643916 2017
39
RASA1 regulates the function of lymphatic vessel valves in mice. 38
28530642 2017
40
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. 38
28297145 2017
41
Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management. 38
28558378 2017
42
Modeling RASopathies with Genetically Modified Mouse Models. 38
27924582 2017
43
Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management. 38
27456075 2016
44
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases. 38
27480194 2016
45
Genetic basis for vascular anomalies. 38
27607321 2016
46
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. 38
27155140 2016
47
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. 38
26969842 2016
48
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 38
26499346 2016
49
Recent advances in RASopathies. 38
26446362 2016
50
Capillary malformations: a classification using specific names for specific skin disorders. 38
25864701 2015

Variations for Capillary Malformation-Arteriovenous Malformation 1

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

6 (show top 50) (show all 138)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RASA1 NM_002890.3(RASA1): c.613_617del (p.Leu205fs) deletion Pathogenic rs1060503441 5:86627238-86627242 5:87331421-87331425
2 RASA1 NM_002890.3(RASA1): c.1356_1357CA[1] (p.Thr453fs) short repeat Pathogenic rs1060503439 5:86658393-86658394 5:87362576-87362577
3 RASA1 deletion Pathogenic
4 RASA1 NM_002890.3(RASA1): c.2707C> T (p.Arg903Ter) single nucleotide variant Pathogenic rs1554050230 5:86679546-86679546 5:87383729-87383729
5 RASA1 NM_002890.3(RASA1): c.1659C> A (p.Tyr553Ter) single nucleotide variant Pathogenic rs747745016 5:86665678-86665678 5:87369861-87369861
6 RASA1 NM_002890.3(RASA1): c.2557dup (p.Ser853fs) duplication Pathogenic rs1554049825 5:86675621-86675621 5:87379804-87379804
7 RASA1 NM_002890.3(RASA1): c.656C> G (p.Ser219Ter) single nucleotide variant Pathogenic rs1554044823 5:86627281-86627281 5:87331464-87331464
8 RASA1 NM_002890.3(RASA1): c.2873del (p.Pro958fs) deletion Pathogenic rs1554050584 5:86682668-86682668 5:87386851-87386851
9 RASA1 NM_002890.3(RASA1): c.261_262del (p.Gly89fs) deletion Pathogenic rs1384480619 5:86564529-86564530 5:87268712-87268713
10 RASA1 NM_002890.3(RASA1): c.1024dup (p.Glu342fs) duplication Pathogenic rs1554045819 5:86637113-86637113 5:87341296-87341296
11 RASA1 NM_002890.3(RASA1): c.2603+1G> A single nucleotide variant Pathogenic rs983011713 5:86675668-86675668 5:87379851-87379851
12 RASA1 NM_002890.3(RASA1): c.471_472CT[2] (p.Leu159fs) short repeat Pathogenic rs797044451 5:86564743-86564744 5:87268926-87268927
13 RASA1 NM_002890.3(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 5:86665638-86665638 5:87369821-87369821
14 RASA1 NM_002890.3(RASA1): c.853C> T (p.Arg285Ter) single nucleotide variant Pathogenic rs137853218 5:86629108-86629108 5:87333291-87333291
15 RASA1 RASA1, IVS3AS, G-A, -9 single nucleotide variant Pathogenic
16 RASA1 RASA1, 4-BP DUP, 2252TCAT duplication Pathogenic
17 RASA1 NM_002890.3(RASA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs863223718 5:86672329-86672329 5:87376512-87376512
18 RASA1 NM_002890.3(RASA1): c.2909_2913dup (p.Asp972delinsPheTer) duplication Pathogenic rs878854570 5:86682704-86682708 5:87386887-87386891
19 RASA1 NM_002890.3(RASA1): c.2529dup (p.Asn844Ter) duplication Pathogenic rs878854569 5:86675593-86675593 5:87379776-87379776
20 RASA1 NM_002890.3(RASA1): c.3043G> T (p.Glu1015Ter) single nucleotide variant Pathogenic 5:86685327-86685327 5:87389510-87389510
21 RASA1 NM_002890.3(RASA1): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic 5:86645120-86645120 5:87349303-87349303
22 RASA1 NM_002890.3(RASA1): c.2333dup (p.Ser779fs) duplication Pathogenic 5:86672846-86672846 5:87377029-87377029
23 RASA1 NM_002890.3(RASA1): c.2245C> T (p.Arg749Ter) single nucleotide variant Pathogenic 5:86672758-86672758 5:87376941-87376941
24 RASA1 NM_002890.3(RASA1): c.2864_2865GT[1] (p.Val956fs) short repeat Pathogenic 5:86682661-86682662 5:87386844-87386845
25 RASA1 NC_000005.9: g.(?_86564259)_(86649062_?)del deletion Pathogenic 5:86564259-86649062 5:87268442-87353245
26 RASA1 NM_002890.3(RASA1): c.1698+2T> C single nucleotide variant Likely pathogenic 5:86665719-86665719 5:87369902-87369902
27 RASA1 NM_002890.3(RASA1): c.1935-3T> G single nucleotide variant Likely pathogenic rs201249348 5:86670654-86670654 5:87374837-87374837
28 RASA1 NM_002890.3(RASA1): c.3109_3112del (p.Gln1037fs) deletion Likely pathogenic rs1554051094 5:86686665-86686668 5:87390848-87390851
29 RASA1 NM_002890.3(RASA1): c.3055C> T (p.Gln1019Ter) single nucleotide variant Likely pathogenic rs1060503440 5:86685339-86685339 5:87389522-87389522
30 RASA1 NM_002890.3(RASA1): c.2847+1G> A single nucleotide variant Likely pathogenic rs1060503438 5:86681207-86681207 5:87385390-87385390
31 RASA1 NM_002890.3(RASA1): c.2926-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369251473 5:86685202-86685202 5:87389385-87389385
32 RASA1 NM_002890.3(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 5:86675667-86675667 5:87379850-87379850
33 RASA1 NM_002890.3(RASA1): c.1583A> G (p.Tyr528Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145752649 5:86659294-86659294 5:87363477-87363477
34 RASA1 NM_002890.3(RASA1): c.*424G> A single nucleotide variant Uncertain significance rs191725379 5:86687124-86687124 5:87391307-87391307
35 RASA1 NM_002890.3(RASA1): c.*448T> G single nucleotide variant Uncertain significance rs886060847 5:86687148-86687148 5:87391331-87391331
36 RASA1 NM_002890.3(RASA1): c.*572C> A single nucleotide variant Uncertain significance rs886060848 5:86687272-86687272 5:87391455-87391455
37 RASA1 NM_002890.3(RASA1): c.467G> T (p.Gly156Val) single nucleotide variant Uncertain significance 5:86564735-86564735 5:87268918-87268918
38 RASA1 NM_002890.3(RASA1): c.539+3A> G single nucleotide variant Uncertain significance 5:86564810-86564810 5:87268993-87268993
39 RASA1 NM_002890.3(RASA1): c.1368C> T (p.Gly456=) single nucleotide variant Uncertain significance 5:86658403-86658403 5:87362586-87362586
40 RASA1 NM_002890.3(RASA1): c.2239C> A (p.Gln747Lys) single nucleotide variant Uncertain significance 5:86672752-86672752 5:87376935-87376935
41 RASA1 NM_002890.3(RASA1): c.407C> T (p.Pro136Leu) single nucleotide variant Uncertain significance rs769463654 5:86564675-86564675 5:87268858-87268858
42 RASA1 NM_002890.3(RASA1): c.2049G> C (p.Gly683=) single nucleotide variant Uncertain significance rs886060841 5:86672247-86672247 5:87376430-87376430
43 RASA1 NM_002890.3(RASA1): c.3029G> A (p.Arg1010Gln) single nucleotide variant Uncertain significance rs886060844 5:86685313-86685313 5:87389496-87389496
44 RASA1 NM_002890.3(RASA1): c.*16T> C single nucleotide variant Uncertain significance rs770822619 5:86686716-86686716 5:87390899-87390899
45 RASA1 NM_002890.3(RASA1): c.2487+11A> C single nucleotide variant Uncertain significance rs886060842 5:86674366-86674366 5:87378549-87378549
46 RASA1 NM_002890.3(RASA1): c.-179A> C single nucleotide variant Uncertain significance rs886060838 5:86564090-86564090 5:87268273-87268273
47 RASA1 NM_002890.3(RASA1): c.351C> T (p.Thr117=) single nucleotide variant Uncertain significance rs763970609 5:86564619-86564619 5:87268802-87268802
48 RASA1 NM_002890.3(RASA1): c.2608T> C (p.Leu870=) single nucleotide variant Uncertain significance rs372498033 5:86676330-86676330 5:87380513-87380513
49 RASA1 NM_002890.3(RASA1): c.*9G> A single nucleotide variant Uncertain significance rs886060845 5:86686709-86686709 5:87390892-87390892
50 RASA1 NM_002890.3(RASA1): c.*840_*842ATT[1] short repeat Uncertain significance rs201705926 5:86687543-86687545 5:87391726-87391728

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

74
# 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:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

GO Terms for Capillary Malformation-Arteriovenous Malformation 1

Sources for Capillary Malformation-Arteriovenous Malformation 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....