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CMAVM1
MCID: CPL014
MIFTS: 48

Capillary Malformation-Arteriovenous Malformation 1 (CMAVM1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation 1

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MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation 1:

Name: Capillary Malformation-Arteriovenous Malformation 1 57 73 29 6
Capillary Malformation-Arteriovenous Malformation 57 43 58 36 29 13 6 39
Capillary Malformation-Arteriovenous Malformation Syndrome 25 20 43
Cm-Avm Syndrome 25 20
Cmavm1 57 73
Cm-Avm 43 58
Cmavm 57 20
Capillary Malformation-Arteriovenous Malformation; Cmavm 57
Vascular Malformations 44
Vascular Malformation 17

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:

25
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608354
OMIM Phenotypic Series 57 PS608354
KEGG 36 H02043
MeSH 44 D054079
ICD10 via Orphanet 33 Q27.3
UMLS via Orphanet 72 C1842180
Orphanet 58 ORPHA137667
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Summaries for Capillary Malformation-Arteriovenous Malformation 1

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MedlinePlus Genetics : 43 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 Iron and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, 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) (Updated 05-Mar-2021)

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
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Related Diseases for Capillary Malformation-Arteriovenous Malformation 1

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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 511)
# Related Disease Score Top Affiliating Genes
1 parkes weber syndrome 31.4 RASA1 CCNH
2 weber syndrome 30.0 RASA1 CCNH
3 capillary malformation-arteriovenous malformation 2 11.9
4 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.8
5 vascular malformation, primary intraosseous 11.7
6 noonan syndrome 1 11.3
7 cerebral cavernous malformations 11.3
8 proteus syndrome 11.2
9 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
10 phacomatosis pigmentovascularis 11.1
11 complex vascular malformation with associated anomalies 11.1
12 dieulafoy lesion 11.1
13 athabaskan brainstem dysgenesis syndrome 11.1
14 simple vascular malformation 11.0
15 genetic complex vascular malformation with associated anomalies 11.0
16 rare combined vascular malformation 11.0
17 rare vascular malformation of major vessels 11.0
18 arteriovenous malformations of the brain 11.0
19 hemangioma, capillary infantile 11.0
20 superficial siderosis 10.9
21 arteriovenous malformation 10.9
22 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.9
23 kaposiform lymphangiomatosis 10.9
24 extracranial arteriovenous malformation 10.9
25 hypertrophic olivary degeneration 10.9
26 regional odontodysplasia 10.9
27 hereditary hemorrhagic telangiectasia 10.4
28 cavernous malformation 10.4
29 telangiectasis 10.3
30 posttransplant acute limbic encephalitis 10.3
31 angiodysplasia 10.3
32 aneurysm 10.3
33 hydrocephalus 10.3
34 cavernous hemangioma 10.3
35 cerebral aneurysms 10.3
36 sturge-weber syndrome 10.2
37 hemangioma 10.2
38 congestive heart failure 10.2
39 overgrowth syndrome 10.2
40 portal hypertension 10.2
41 seizure disorder 10.2
42 rare lymphatic malformation 10.2
43 dowling-degos disease 1 10.2
44 varicose veins 10.1
45 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
46 pulmonary hypertension 10.1
47 scoliosis 10.1
48 vascular disease 10.1
49 pik3ca-related overgrowth spectrum 10.1
50 pyogenic granuloma 10.1

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



Diseases related to Capillary Malformation-Arteriovenous Malformation 1
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Symptoms & Phenotypes for Capillary Malformation-Arteriovenous Malformation 1

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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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
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Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation 1

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
2
Somatostatin Approved, Investigational Phase 2, Phase 3 51110-01-1, 38916-34-6 53481605
3
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
4 Antineoplastic Agents, Hormonal Phase 2, Phase 3
5 Gastrointestinal Agents Phase 2, Phase 3
6 Antihypertensive Agents Phase 3
7 Neurotransmitter Agents Phase 3
8 Adrenergic Agents Phase 3
9 Adrenergic alpha-Agonists Phase 3
10 Brimonidine Tartrate Phase 3 70359-46-5
11 Adrenergic Agonists Phase 3
12
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
13
Ferrous succinate Approved Phase 2 10030-90-7
14
Bevacizumab Approved, Investigational Phase 2 216974-75-3
15
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
16
tannic acid Approved Phase 2 1401-55-4
17 Hematinics Phase 2
18 Anesthetics Phase 1, Phase 2
19 Liver Extracts Phase 2
20 Antineoplastic Agents, Immunological Phase 2
21
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
22
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030
23
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
24
Marimastat Investigational Phase 1 154039-60-8 119031
25 Immunosuppressive Agents Phase 1
26 Immunologic Factors Phase 1
27 Anti-Infective Agents Phase 1
28 Anti-Bacterial Agents Phase 1
29 Antifungal Agents Phase 1
30 Antibiotics, Antitubercular Phase 1
31
Timolol Approved 26839-75-8 33624 5478
32
Ethanol Approved 64-17-5 702
33
Acetylcholine Approved, Investigational 51-84-3 187
34
Maleic acid Experimental 110-16-7 444266
35 Adrenergic Antagonists
36 Adrenergic beta-Antagonists
37 Anti-Arrhythmia Agents
38 Fibrin fragment D
39 Ferrosoferric Oxide Early Phase 1
40 Parenteral Nutrition Solutions Early Phase 1
41 Mitogens
42 Pharmaceutical Solutions
43 Ophthalmic Solutions
44 Plasma-lyte 148
45 Endothelial Growth Factors
46 Respiratory System Agents
47 abobotulinumtoxinA
48 Muscarinic Antagonists
49 Cholinergic Antagonists
50 Botulinum Toxins

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 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
2 Clinical Study on Efficacy and Safety of the mTor Rapamycin Inhibitor Found in the Complex Vascular Malformations Completed NCT01811667 Phase 3 Sirolimus
3 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
4 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
5 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
6 A Phase II Clinical Study to Evaluate the Efficacy and Safety of Rapamycin in Complex Vascular Anomalies in Pediatric Patients Recruiting NCT04598204 Phase 2, Phase 3 Treatment with oral rapmycin
7 Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life Active, not recruiting NCT03987152 Phase 3 Sirolimus
8 Onreltea (Brimonidine) Gel In Pediatric Patients With Capillary Malformations: A Prospective, Open-label, Cohort Study Terminated NCT02764411 Phase 3 Brimonidine 0.33% gel
9 Electrosclerotherapy as a Novel Treatment Option for Capillary Malformations: A Pilot Study Unknown status NCT02883023 Phase 2 Intralesional bleomycin injection
10 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
11 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
12 Cryoablation of Venous Vascular Malformations Located in Soft Tissues Completed NCT01845935 Phase 1, Phase 2
13 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
14 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
15 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
16 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
17 A Randomised, Double-blind, Placebo-controlled Study of Thalidomide in Gastrointestinal Vascular Malformation Related Bleeding Withdrawn NCT02754960 Phase 2 Thalidomide;Placebo
18 Pulsed Dye Laser Treatment of Port Wine Stain Birthmarks: Comparison of 577 nm Versus 595 nm Wavelengths Completed NCT00573729 Phase 1
19 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
20 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
21 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
22 An Observational Study as to the Effects of Cutaneous Air-cooling on Blood Vessel Diameter in Capillary Malformations Unknown status NCT01735734
23 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
24 Clinical Outcome in Patients With Spinal Dural Arteriovenous Fistulas Unknown status NCT03192800
25 Vascular Malformations and Abnormalities of Growth Completed NCT01105676
26 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept Completed NCT01752049 Topical timolol maleate;placebo saline drops
27 Safety of Apollo Embolization Delivery Micro Catheter in Pediatric Patients With Vascular Malformations Completed NCT02085278
28 Airway Vascular Lesions Completed NCT00866827
29 Stereotactic MRI Based Image Guidance for the Treatment of Vascular Malformations - a Pilot Study Completed NCT02991352
30 Influence of Flat-knitted Compression Stockings Class I and II on the Morphology of Venous Malformations - Is There a Therapeutic Effect? Completed NCT04637997
31 Estimation of the Placental Volume by 3D Ultrasound at 12, 16 and 22 Weeks : Relation With Growth Factors and D-Dimers - Monocentric Prospective Cohort Completed NCT00767182
32 Diagnosis of Hemangiomas and Vascular Malformations Using Non-invasive Imaging Devices Completed NCT00577213
33 MR Imaging of Inflammatory Responses in the Central Nervous System With Ferumoxytol-Enhanced MRI Completed NCT02452216 Early Phase 1 Ferumoxytol
34 International Registry for Vascular Anomalies Associated With Coagulopathy Completed NCT00576888
35 LIQUID - Treatment of Dural Arteriovenous Fistulas With SQUIDâ„¢ Liquid Embolic Agent, A Non-interventional, Observational, Prospective and Multi-center Study Completed NCT03524976
36 ONYX Evaluation in the Endovascular Treatment of Intracranial Dural Arteriovenous Fistulae. A French, Observational, Prospective, Multicentric, Single Arm and Open Study Completed NCT02180945
37 The Management of Postoperative Craniotomy Pain in Pediatric Patients: A Prospective Cohort Study Completed NCT01576601
38 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870
39 the Efficiency of Endoscopic Treatment for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation: the Study of the Bleeding Risks Stratification Model and Endoscopic Treatment Recruiting NCT02716545
40 Comparison of Normal Saline and Balanced Crystalloid Intravenous Therapy During Neurosurgery Recruiting NCT03429127
41 Efficacy and Safety of Sirolimus in the Treatment of the Complicated Vascular Anomalies Recruiting NCT03583307 Sirolimus
42 PHIL Evaluation in the Endovascular Treatment of Intracranial Dural AVF, a European Multi-center, Observational, Prospective, Single Arm and Open Label Study. Recruiting NCT03317821
43 Bone Health in Patients With Overgrowth Recruiting NCT02561182
44 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
45 Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome Recruiting NCT02250456
46 Multicenter, International, Prospective, Observational, Study Using Neuro-Patch® in Duraplasty in Neurosurgery (MiDura) Recruiting NCT04189172
47 A 10-Minute Cardiovascular Magnetic Resonance Protocol for Cardiac Disease Recruiting NCT04464655
48 The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Active, not recruiting NCT01425944
49 Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies With Genetic Alterations of the PI3K/AKT Pathway Available NCT03317366 ARQ 092
50 Patient Reported Outcomes for Vascular Malformations EmbolizatioN (PROVEN) Enrolling by invitation NCT04104464

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation 1

Cochrane evidence based reviews: vascular malformations

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Genetic Tests for Capillary Malformation-Arteriovenous Malformation 1

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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
Sources

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 1

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

40
Heart, Liver, Endothelial, Skin, Bone, Lung, Spinal Cord
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Publications for Capillary Malformation-Arteriovenous Malformation 1

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Articles related to Capillary Malformation-Arteriovenous Malformation 1:

(show top 50) (show all 119)
# Title Authors PMID Year
1
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. 61 25 57 6
18363760 2008
2
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 25 6 57 61
14639529 2003
3
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 61 57 25
24038909 2013
4
RASA1: variable phenotype with capillary and arteriovenous malformations. 57 61
15917201 2005
5
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 25 61
30760892 2019
6
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. 61 25
29891884 2018
7
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 61 25
29444212 2018
8
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. 61 25
29110021 2018
9
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. 61 25
29024832 2018
10
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 25 61
28687708 2017
11
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations. 57
28779187 2017
12
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. 25 61
26969842 2016
13
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 61 25
26499346 2016
14
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. 25 61
26096958 2015
15
Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. 25 61
25040287 2015
16
Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome. 61 25
23829194 2015
17
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. 25 61
23933248 2013
18
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. 25 61
23662773 2013
19
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. 25 61
23687085 2013
20
Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. 61 25
23650393 2013
21
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. 25 61
23801933 2013
22
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 61 25
21626678 2011
23
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 25 61
18446851 2008
24
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. 57
12080389 2002
25
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. 57
10814716 2000
26
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. 57
9989629 1999
27
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 25
29905864 2018
28
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 25
27400125 2016
29
Timing, rates and spectra of human germline mutation. 25
26656846 2016
30
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). 25
26268729 2016
31
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. 25
23656586 2013
32
Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis. 25
23165854 2012
33
EphB4 promotes or suppresses Ras/MEK/ERK pathway in a context-dependent manner: Implications for EphB4 as a cancer target. 25
22555806 2012
34
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 25
22670137 2012
35
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. 25
22342634 2012
36
RASA1 analysis: clinical and molecular findings in a series of consecutive cases. 25
22200646 2012
37
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome. 25
20821215 2011
38
A novel association between RASA1 mutations and spinal arteriovenous anomalies. 25
20007727 2010
39
A novel mutation in RASA1 causes capillary malformation and limb enlargement. 25
18327598 2008
40
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. 25
18216519 2008
41
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 25
17526801 2007
42
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 25
17392703 2007
43
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). 25
11845407 2002
44
Roles of ephrinB ligands and EphB receptors in cardiovascular development: demarcation of arterial/venous domains, vascular morphogenesis, and sprouting angiogenesis. 25
9990854 1999
45
Capillary malformation-arteriovenous malformation syndrome: a multicentre study. 61
32840927 2021
46
Characterization of vascular stains associated with high flow. 61
32603724 2021
47
De novo intracranial arteriovenous malformation development after endovascular treatment for a pial arteriovenous fistula in capillary malformation-arteriovenous malformation syndrome. 61
32635776 2021
48
Capillary Malformation-Arteriovenous Malformation Syndrome. 61
33437561 2021
49
Multiple lentigines in RASA1-associated capillary malformation-arteriovenous malformation syndrome. 61
33319004 2021
50
RhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis. 61
33358701 2020
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Variations for Capillary Malformation-Arteriovenous Malformation 1

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

6 (show top 50) (show all 248)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RASA1 NM_002890.3(RASA1):c.261_262del (p.Gly89fs) Deletion Pathogenic 503721 rs1384480619 5:86564529-86564530 5:87268712-87268713
2 RASA1 NM_002890.3(RASA1):c.365C>A (p.Ser122Ter) SNV Pathogenic 952905 5:86564633-86564633 5:87268816-87268816
3 RASA1 NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter) SNV Pathogenic 957547 5:86564760-86564760 5:87268943-87268943
4 RASA1 NM_002890.3(RASA1):c.613_617del (p.Leu205fs) Deletion Pathogenic 411714 rs1060503441 5:86627234-86627238 5:87331417-87331421
5 RASA1 NM_002890.3(RASA1):c.2557dup (p.Ser853fs) Duplication Pathogenic 464859 rs1554049825 5:86675618-86675619 5:87379801-87379802
6 RASA1 NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) SNV Pathogenic 838893 5:86642491-86642491 5:87346674-87346674
7 RASA1 NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter) Duplication Pathogenic 839046 5:86674269-86674270 5:87378452-87378453
8 RASA1 NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) SNV Pathogenic 618858 rs975191415 5:86648999-86648999 5:87353182-87353182
9 RASA1 NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter) SNV Pathogenic 853434 5:86645150-86645150 5:87349333-87349333
10 RASA1 NM_002890.3(RASA1):c.578_581dup (p.Leu195fs) Duplication Pathogenic 854189 5:86627201-86627202 5:87331384-87331385
11 RASA1 NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs) Deletion Pathogenic 857947 5:86645091-86645092 5:87349274-87349275
12 RASA1 NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) Deletion Pathogenic 279880 rs886041232 5:86679534-86679537 5:87383717-87383720
13 RASA1 NM_002890.3(RASA1):c.2810_2811del (p.Val937fs) Microsatellite Pathogenic 942746 5:86681167-86681168 5:87385350-87385351
14 RASA1 NM_002890.3(RASA1):c.2451dup (p.Ile818fs) Duplication Pathogenic 942876 5:86674318-86674319 5:87378501-87378502
15 RASA1 NM_002890.3(RASA1):c.1332+2T>G SNV Pathogenic 945919 5:86649054-86649054 5:87353237-87353237
16 RASA1 NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) SNV Pathogenic 949975 5:86685312-86685312 5:87389495-87389495
17 RASA1 NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) Deletion Pathogenic 952284 5:86659287-86659290 5:87363470-87363473
18 RASA1 NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter) SNV Pathogenic 952946 5:86672380-86672380 5:87376563-87376563
19 RASA1 NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs) Indel Pathogenic 966395 5:86669998-86669998 5:87374181-87374181
20 RASA1 NM_002890.3(RASA1):c.471_472CT[2] (p.Leu159fs) Microsatellite Pathogenic 15999 rs797044451 5:86564739-86564740 5:87268922-87268923
21 RASA1 NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) SNV Pathogenic 16000 rs137853217 5:86665638-86665638 5:87369821-87369821
22 RASA1 NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) SNV Pathogenic 16001 rs137853218 5:86629108-86629108 5:87333291-87333291
23 RASA1 NM_002890.3(RASA1):c.829-9G>A SNV Pathogenic 16002 rs1348578241 5:86629075-86629075 5:87333258-87333258
24 RASA1 NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) Duplication Pathogenic 16003 rs1580386963 5:86672764-86672765 5:87376947-87376948
25 RASA1 NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) Duplication Pathogenic 239413 rs878854570 5:86682703-86682704 5:87386886-87386887
26 RASA1 NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) Duplication Pathogenic 239412 rs878854569 5:86675592-86675593 5:87379775-87379776
27 RASA1 NM_002890.3(RASA1):c.1356_1357CA[1] (p.Thr453fs) Microsatellite Pathogenic 411712 rs1060503439 5:86658390-86658391 5:87362573-87362574
28 CCNH NC_000005.10:g.(?_87268432)_(87353255_?)del Deletion Pathogenic 464851 5:87268432-87353255
29 RASA1 NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) SNV Pathogenic 464870 rs1554044823 5:86627281-86627281 5:87331464-87331464
30 RASA1 NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) SNV Pathogenic 464854 rs747745016 5:86665678-86665678 5:87369861-87369861
31 RASA1 NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) SNV Pathogenic 464861 rs1554050230 5:86679546-86679546 5:87383729-87383729
32 RASA1 NM_002890.3(RASA1):c.2873del (p.Pro958fs) Deletion Pathogenic 464864 rs1554050584 5:86682667-86682667 5:87386850-87386850
33 RASA1 NM_002890.3(RASA1):c.1024dup (p.Glu342fs) Duplication Pathogenic 523621 rs1554045819 5:86637110-86637111 5:87341293-87341294
34 RASA1 NM_002890.3(RASA1):c.2603+1G>A SNV Pathogenic 533449 rs983011713 5:86675668-86675668 5:87379851-87379851
35 RASA1 NM_002890.3(RASA1):c.2333dup (p.Ser779fs) Duplication Pathogenic 565616 rs1347210621 5:86672845-86672846 5:87377028-87377029
36 RASA1 NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) SNV Pathogenic 565648 rs1204340475 5:86672758-86672758 5:87376941-87376941
37 RASA1 NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) SNV Pathogenic 581667 rs1561333645 5:86685327-86685327 5:87389510-87389510
38 RASA1 NM_002890.3(RASA1):c.2864_2865GT[1] (p.Val956fs) Microsatellite Pathogenic 582697 rs1561331089 5:86682659-86682660 5:87386842-87386843
39 RASA1 NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) SNV Pathogenic 464870 rs1554044823 5:86627281-86627281 5:87331464-87331464
40 RASA1 NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) SNV Pathogenic 213660 rs863223718 5:86672329-86672329 5:87376512-87376512
41 CCNH NC_000005.10:g.(?_87268442)_(87353245_?)del Deletion Pathogenic 655225 5:86564259-86649062 5:87268442-87353245
42 RASA1 NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) SNV Pathogenic 652988 rs1210180190 5:86645120-86645120 5:87349303-87349303
43 RASA1 NM_002890.3(RASA1):c.1257dup (p.Gly420fs) Duplication Pathogenic 978533 5:86648975-86648976 5:87353158-87353159
44 RASA1 NM_002890.3(RASA1):c.1103-1G>T SNV Pathogenic 987898 5:86645030-86645030 5:87349213-87349213
45 RASA1 NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) Insertion Pathogenic 440232 rs1554048061 5:86659224-86659224 5:87363406-87363407
46 RASA1 NM_002890.3(RASA1):c.2925+1del Deletion Pathogenic 973511 5:86682718-86682718 5:87386901-87386901
47 RASA1 NM_002890.3(RASA1):c.934_938del (p.Glu312fs) Deletion Pathogenic 973512 5:86633824-86633828 5:87338007-87338011
48 RASA1 NM_002890.3(RASA1):c.1698+2T>C SNV Likely pathogenic 572119 rs1561316757 5:86665719-86665719 5:87369902-87369902
49 RASA1 NM_002890.3(RASA1):c.1935-3T>G SNV Likely pathogenic 533451 rs201249348 5:86670654-86670654 5:87374837-87374837
50 RASA1 NM_002890.3(RASA1):c.2847+1G>A SNV Likely pathogenic 411711 rs1060503438 5:86681207-86681207 5:87385390-87385390

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

73
# 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

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Expression for Capillary Malformation-Arteriovenous Malformation 1

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

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

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Axon guidance hsa04360
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GO Terms for Capillary Malformation-Arteriovenous Malformation 1

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Sources for Capillary Malformation-Arteriovenous Malformation 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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