CMAVM1
MCID: CPL014
MIFTS: 57

Capillary Malformation-Arteriovenous Malformation 1 (CMAVM1)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation 1

MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation 1:

Name: Capillary Malformation-Arteriovenous Malformation 1 57 73 28 5
Parkes Weber Syndrome 19 42 58 75 28 5 38
Capillary Malformation-Arteriovenous Malformation 57 42 58 12 38 71
Capillary Malformation-Arteriovenous Malformation Syndrome 24 19 42 28 5
Cm-Avm Syndrome 24 19
Cmavm1 57 73
Cm-Avm 42 58
Cmavm 57 19
Pkws 19 42
Capillary Malformation-Arteriovenous Malformation, Type 1 38
Parkes-Weber Syndrome 42

Characteristics:


Inheritance:

Capillary Malformation-Arteriovenous Malformation 1: Autosomal dominant 57
Capillary Malformation-Arteriovenous Malformation: Autosomal dominant 58
Parkes Weber Syndrome: Autosomal dominant 58

Age Of Onset:

Capillary Malformation-Arteriovenous Malformation: Infancy,Neonatal 58
Parkes Weber Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
in most cases capillary lesions are multifocal at birth and may increase in number with age
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


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 eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Capillary Malformation-Arteriovenous Malformation 1

MedlinePlus Genetics: 42 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 parkes weber syndrome, is related to noonan syndrome 1 and arteriovenous malformation. An important gene associated with Capillary Malformation-Arteriovenous Malformation 1 is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are Nervous system development and GPCR Pathway. The drugs Pharmaceutical Solutions and GTPase-Activating Proteins have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are capillary malformation and varicose veins

OMIM®: 57 Capillary malformation-arteriovenous malformation-1 (CMAVM1) 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 underlying multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988). (608354) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.

Orphanet: 58 This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.

Wikipedia: 75 Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare... more...

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 93)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 31.2 RASA1 MAP2K1 KRAS
2 arteriovenous malformation 31.1 RASA1 MAP2K1 EPHB4
3 weber syndrome 30.8 RASA1 EPHB4
4 hereditary hemorrhagic telangiectasia 30.0 RASA1 EPHB4 CCNH
5 arteriovenous malformations of the brain 29.9 RASA1 KRAS EPHB4
6 klippel-trenaunay-weber syndrome 29.7 RASA1 EPHB4 CCNH
7 neurofibromatosis, type i 29.5 RASA1 MAP2K1 KRAS
8 capillary malformation-arteriovenous malformation 2 11.9
9 capillary malformations, congenital 11.0
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
11 varicose veins 10.4
12 telangiectasis 10.4
13 posttransplant acute limbic encephalitis 10.4
14 sturge-weber syndrome 10.2
15 hereditary lymphedema i 10.2
16 lymphangioma 10.2
17 hemangioma 10.2
18 congestive heart failure 10.2
19 overgrowth syndrome 10.2
20 pulmonary hypertension 10.2
21 angiodysplasia 10.2
22 spinal cord disease 10.2
23 congenital femoral deficiency 10.2
24 femoral agenesis/hypoplasia 10.2
25 lower limb hypertrophy 10.2
26 alagille syndrome 1 10.1
27 lentigines 10.1
28 ebstein anomaly 10.1
29 hemihyperplasia, isolated 10.1
30 hydrops fetalis, nonimmune 10.1
31 hypotrichosis 7 10.1
32 cholestasis 10.1
33 retinal vascular disease 10.1
34 capillary hemangioma 10.1
35 turner syndrome 10.1
36 skin disease 10.1
37 hypotrichosis 10.1
38 bier spots 10.1
39 erythrokeratoderma ''en cocardes'' 10.1
40 hypotonia 10.1
41 immune hydrops fetalis 10.1
42 rare genetic skin disease 10.1
43 renal dysplasia 10.1
44 thrombophilia due to thrombin defect 10.1
45 neurofibromatosis-noonan syndrome 10.1
46 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1
47 muscle hypertrophy 10.1
48 limb ischemia 10.1
49 osteomyelitis 10.1
50 respiratory failure 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:

58 30 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 capillary malformation 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0025104
2 varicose veins 58 30 Frequent (33%) Frequent (79-30%)
HP:0002619
3 peripheral arteriovenous fistula 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0100784
4 hemihypertrophy of lower limb 58 30 Frequent (33%) Frequent (79-30%)
HP:0100553
5 muscle hypertrophy of the lower extremities 58 30 Frequent (33%) Frequent (79-30%)
HP:0008968
6 venous malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0012721
7 high-output congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0001722
8 prominent superficial blood vessels 58 30 Frequent (33%) Frequent (79-30%)
HP:0007394
9 erythematous plaque 58 30 Frequent (33%) Frequent (79-30%)
HP:0025474
10 vascular tortuosity 58 30 Frequent (33%) Frequent (79-30%)
HP:0004948
11 bounding pulse 58 30 Frequent (33%) Frequent (79-30%)
HP:0032555
12 vascular dilatation 30 Frequent (33%) HP:0002617
13 lymphedema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001004
14 skin ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200042
15 back pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003418
16 nephrotic syndrome 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000100
17 dural ectasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100775
18 abnormality of the lymphatic system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100763
19 cerebral ischemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002637
20 epistaxis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000421
21 chest pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100749
22 headache 58 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
HP:0002315
23 subarachnoid hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002138
24 urinary retention 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000016
25 distal sensory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002936
26 telangiectasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001009
27 disseminated intravascular coagulation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005521
28 cerebral arteriovenous malformation 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002408
29 spinal arteriovenous malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002390
30 neck pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030833
31 myelopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002196
32 scaling skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040189
33 lower limb pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012514
34 lower limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007340
35 abnormal b-type natriuretic peptide level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031138
36 abnormality of the musculature of the limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009127
37 vein of galen aneurysmal malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030713
38 abnormal lymphatic vessel morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100766
39 hypertrophy of the upper limb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010484
40 conus terminalis arteriovenous malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031939
41 abnormal femoral metaphysis morphology 30 Occasional (7.5%) HP:0006489
42 seizure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001250
43 hydrocephalus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000238
44 migraine 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002076
45 abnormal heart morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001627
46 functional motor deficit 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004302
47 hemangiomatosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007461
48 neurogenic bladder 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000011
49 arteriovenous fistula 58 30 Very rare (1%) Occasional (29-5%)
Frequent (79-30%)
HP:0004947
50 chylothorax 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010310

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

Clinical features from OMIM®:

608354 (Updated 08-Dec-2022)

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 GTPase-Activating Proteins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DOUBLE-SKIN: a New Approach in Laser Surgery Using the Regenerative Solution in Children Diagnosed With Vascular Pathology: a Randomised, Double-blind, Placebo-controlled Trial Completed NCT04999618 Phase 4 Haemoblock
2 French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur" Unknown status NCT01364857

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation 1

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 28 RASA1
2 Capillary Malformation-Arteriovenous Malformation Syndrome 28 EPHB4
3 Parkes Weber Syndrome 28

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 1

Organs/tissues related to Capillary Malformation-Arteriovenous Malformation 1:

MalaCards : Skin, Heart, Bone, Eye, Brain, Lung, Liver

Publications for Capillary Malformation-Arteriovenous Malformation 1

Articles related to Capillary Malformation-Arteriovenous Malformation 1:

(show top 50) (show all 315)
# Title Authors PMID Year
1
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 62 24 57 5
24038909 2013
2
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. 62 24 57 5
18363760 2008
3
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 62 24 57 5
14639529 2003
4
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. 62 24 5
29891884 2018
5
Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. 62 24 5
25040287 2015
6
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 62 24 5
18446851 2008
7
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome. 62 5
28295764 2018
8
Clinical and genetic findings in children with central nervous system arteriovenous fistulas. 62 5
29171923 2017
9
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations. 62 57
28779187 2017
10
RASA1: variable phenotype with capillary and arteriovenous malformations. 62 57
15917201 2005
11
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 62 24
30760892 2019
12
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 62 24
29444212 2018
13
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. 62 24
29110021 2018
14
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. 62 24
29024832 2018
15
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 62 24
28687708 2017
16
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. 62 24
26969842 2016
17
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 62 24
26499346 2016
18
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. 62 24
26096958 2015
19
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
20
Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome. 62 24
23829194 2015
21
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. 62 24
23933248 2013
22
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. 62 24
23687085 2013
23
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. 62 24
23662773 2013
24
Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. 62 24
23650393 2013
25
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. 62 24
23801933 2013
26
Active human retrotransposons: variation and disease. 5
22406018 2012
27
RASA1 analysis: clinical and molecular findings in a series of consecutive cases. 62 24
22200646 2012
28
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 62 24
21626678 2011
29
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. 5
20307669 2010
30
A novel association between RASA1 mutations and spinal arteriovenous anomalies. 62 24
20007727 2010
31
The impact of retrotransposons on human genome evolution. 5
19763152 2009
32
A novel mutation in RASA1 causes capillary malformation and limb enlargement. 62 24
18327598 2008
33
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
34
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. 57
12080389 2002
35
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. 57
10814716 2000
36
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. 57
9989629 1999
37
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 24
29905864 2018
38
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 24
27400125 2016
39
Timing, rates and spectra of human germline mutation. 24
26656846 2016
40
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). 24
26268729 2016
41
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. 24
23656586 2013
42
Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis. 24
23165854 2012
43
EphB4 promotes or suppresses Ras/MEK/ERK pathway in a context-dependent manner: Implications for EphB4 as a cancer target. 24
22555806 2012
44
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 24
22670137 2012
45
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. 24
22342634 2012
46
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome. 24
20821215 2011
47
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. 24
18216519 2008
48
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 24
17526801 2007
49
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 24
17392703 2007
50
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). 24
11845407 2002

Variations for Capillary Malformation-Arteriovenous Malformation 1

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

5 (show top 50) (show all 551)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RASA1 and overlap with 2 gene(s) NC_000005.10:g.(?_87268432)_(87353255_?)del DEL Pathogenic
464851 GRCh37:
GRCh38: 5:87268432-87353255
2 RASA1 NM_002890.3(RASA1):c.499del (p.Glu167fs) DEL Pathogenic
981222 GRCh37: 5:86564766-86564766
GRCh38: 5:87268949-87268949
3 RASA1 NM_002890.3(RASA1):c.538del (p.Gln180fs) DEL Pathogenic
1354503 GRCh37: 5:86564805-86564805
GRCh38: 5:87268988-87268988
4 RASA1 NM_002890.3(RASA1):c.434_450del (p.Pro145fs) DEL Pathogenic
1456776 GRCh37: 5:86564701-86564717
GRCh38: 5:87268884-87268900
5 RASA1 NC_000005.9:g.(?_86564269)_(86659341_?)del DEL Pathogenic
1457368 GRCh37: 5:86564269-86659341
GRCh38:
6 RASA1 NC_000005.9:g.(?_86564269)_(86686700_?)del DEL Pathogenic
1451377 GRCh37: 5:86564269-86686700
GRCh38:
7 RASA1 and overlap with 2 gene(s) NC_000005.10:g.(?_87268442)_(87353245_?)del DEL Pathogenic
Pathogenic
655225 GRCh37: 5:86564259-86649062
GRCh38: 5:87268442-87353245
8 RASA1 NM_002890.3(RASA1):c.172_173del (p.Ala58fs) DEL Pathogenic
1075206 GRCh37: 5:86564440-86564441
GRCh38: 5:87268623-87268624
9 RASA1 NM_002890.3(RASA1):c.442dup (p.Ala148fs) DUP Pathogenic
1075680 GRCh37: 5:86564705-86564706
GRCh38: 5:87268888-87268889
10 RASA1 NM_002890.3(RASA1):c.261_262del (p.Gly89fs) DEL Pathogenic
503721 rs1384480619 GRCh37: 5:86564529-86564530
GRCh38: 5:87268712-87268713
11 EPHB4 NM_004444.5(EPHB4):c.121C>T (p.Gln41Ter) SNV Pathogenic
1691322 GRCh37: 7:100421827-100421827
GRCh38: 7:100824205-100824205
12 MAP2K1 NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) DEL Pathogenic
1691383 GRCh37: 15:66727456-66727470
GRCh38: 15:66435118-66435132
13 RASA1 NM_002890.3(RASA1):c.365C>A (p.Ser122Ter) SNV Pathogenic
952905 rs1187087405 GRCh37: 5:86564633-86564633
GRCh38: 5:87268816-87268816
14 RASA1 NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter) SNV Pathogenic
957547 rs1753698267 GRCh37: 5:86564760-86564760
GRCh38: 5:87268943-87268943
15 RASA1 NM_002890.3(RASA1):c.475_476del (p.Leu159fs) MICROSAT Pathogenic
Pathogenic
15999 rs797044451 GRCh37: 5:86564739-86564740
GRCh38: 5:87268922-87268923
16 RASA1, CCNH NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) SNV Pathogenic
16000 rs137853217 GRCh37: 5:86665638-86665638
GRCh38: 5:87369821-87369821
17 RASA1, CCNH NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) SNV Pathogenic
16001 rs137853218 GRCh37: 5:86629108-86629108
GRCh38: 5:87333291-87333291
18 RASA1, CCNH NM_002890.3(RASA1):c.829-9G>A SNV Pathogenic
16002 rs1348578241 GRCh37: 5:86629075-86629075
GRCh38: 5:87333258-87333258
19 RASA1, CCNH NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) DUP Pathogenic
16003 rs1580386963 GRCh37: 5:86672764-86672765
GRCh38: 5:87376947-87376948
20 RASA1, CCNH NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) DUP Pathogenic
Pathogenic
239412 rs878854569 GRCh37: 5:86675592-86675593
GRCh38: 5:87379775-87379776
21 RASA1, CCNH NM_002890.3(RASA1):c.613_617del (p.Leu205fs) DEL Pathogenic
411714 rs1060503441 GRCh37: 5:86627234-86627238
GRCh38: 5:87331417-87331421
22 RASA1, CCNH NM_002890.3(RASA1):c.2557dup (p.Ser853fs) DUP Pathogenic
464859 rs1554049825 GRCh37: 5:86675618-86675619
GRCh38: 5:87379801-87379802
23 RASA1, CCNH NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) SNV Pathogenic
Pathogenic
464861 rs1554050230 GRCh37: 5:86679546-86679546
GRCh38: 5:87383729-87383729
24 RASA1, CCNH NM_002890.3(RASA1):c.1024dup (p.Glu342fs) DUP Pathogenic
523621 rs1554045819 GRCh37: 5:86637110-86637111
GRCh38: 5:87341293-87341294
25 RASA1, CCNH NM_002890.3(RASA1):c.2873del (p.Pro958fs) DEL Pathogenic
464864 rs1554050584 GRCh37: 5:86682667-86682667
GRCh38: 5:87386850-87386850
26 RASA1, CCNH NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) MICROSAT Pathogenic
582697 rs1561331089 GRCh37: 5:86682659-86682660
GRCh38: 5:87386842-87386843
27 RASA1, CCNH NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) SNV Pathogenic
Pathogenic
464870 rs1554044823 GRCh37: 5:86627281-86627281
GRCh38: 5:87331464-87331464
28 RASA1, CCNH NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) SNV Pathogenic
Pathogenic
213660 rs863223718 GRCh37: 5:86672329-86672329
GRCh38: 5:87376512-87376512
29 RASA1, CCNH NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) SNV Pathogenic
Pathogenic
652988 rs1210180190 GRCh37: 5:86645120-86645120
GRCh38: 5:87349303-87349303
30 RASA1, CCNH NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) SNV Pathogenic
838893 rs1758886343 GRCh37: 5:86642491-86642491
GRCh38: 5:87346674-87346674
31 RASA1, CCNH NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter) DUP Pathogenic
839046 rs1761469547 GRCh37: 5:86674269-86674270
GRCh38: 5:87378452-87378453
32 RASA1, CCNH NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) SNV Pathogenic
618858 rs975191415 GRCh37: 5:86648999-86648999
GRCh38: 5:87353182-87353182
33 RASA1, CCNH NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter) SNV Pathogenic
853434 rs1759093156 GRCh37: 5:86645150-86645150
GRCh38: 5:87349333-87349333
34 RASA1, CCNH NM_002890.3(RASA1):c.578_581dup (p.Leu195fs) DUP Pathogenic
854189 rs1757588488 GRCh37: 5:86627201-86627202
GRCh38: 5:87331384-87331385
35 RASA1, CCNH NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) DEL Pathogenic
279880 rs886041232 GRCh37: 5:86679534-86679537
GRCh38: 5:87383717-87383720
36 RASA1, CCNH NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs) DEL Pathogenic
857947 rs1759087658 GRCh37: 5:86645091-86645092
GRCh38: 5:87349274-87349275
37 RASA1, CCNH NM_002890.3(RASA1):c.1332+2T>G SNV Pathogenic
945919 rs1759410564 GRCh37: 5:86649054-86649054
GRCh38: 5:87353237-87353237
38 RASA1, CCNH NM_002890.3(RASA1):c.2810_2811del (p.Val937fs) MICROSAT Pathogenic
942746 rs1761994695 GRCh37: 5:86681167-86681168
GRCh38: 5:87385350-87385351
39 RASA1, CCNH NM_002890.3(RASA1):c.2451dup (p.Ile818fs) DUP Pathogenic
942876 rs1761473113 GRCh37: 5:86674318-86674319
GRCh38: 5:87378501-87378502
40 RASA1, CCNH NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) SNV Pathogenic
949975 rs1762317272 GRCh37: 5:86685312-86685312
GRCh38: 5:87389495-87389495
41 RASA1, CCNH NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) DEL Pathogenic
952284 rs1760265136 GRCh37: 5:86659287-86659290
GRCh38: 5:87363470-87363473
42 RASA1, CCNH NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter) SNV Pathogenic
952946 rs1761341113 GRCh37: 5:86672380-86672380
GRCh38: 5:87376563-87376563
43 RASA1, CCNH NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) INSERT Pathogenic
440232 rs1554048061 GRCh37: 5:86659224-86659224
GRCh38: 5:87363406-87363407
44 RASA1, CCNH NM_002890.3(RASA1):c.2925+1del DEL Pathogenic
973511 rs1762098966 GRCh37: 5:86682718-86682718
GRCh38: 5:87386901-87386901
45 RASA1, CCNH NM_002890.3(RASA1):c.934_938del (p.Glu312fs) DEL Pathogenic
973512 rs1758098122 GRCh37: 5:86633824-86633828
GRCh38: 5:87338007-87338011
46 RASA1, CCNH NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs) INDEL Pathogenic
1033551 rs1761580770 GRCh37: 5:86675596-86675597
GRCh38: 5:87379779-87379780
47 RASA1, CCNH NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs) INDEL Pathogenic
966395 rs1761153296 GRCh37: 5:86669998-86669998
GRCh38: 5:87374181-87374181
48 RASA1, CCNH NM_002890.3(RASA1):c.1103-1G>T SNV Pathogenic
987898 rs1759083657 GRCh37: 5:86645030-86645030
GRCh38: 5:87349213-87349213
49 RASA1, CCNH NM_002890.3(RASA1):c.1926dup (p.Val643fs) DUP Pathogenic
1068659 GRCh37: 5:86670126-86670127
GRCh38: 5:87374309-87374310
50 RASA1, CCNH NM_002890.3(RASA1):c.3050del (p.Gly1017fs) DEL Pathogenic
1069799 GRCh37: 5:86685333-86685333
GRCh38: 5:87389516-87389516

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 rs745690594

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 GeneCards Suite gene sharing:

(show all 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 RASA1 MAP2K1 KRAS EPHB4
2
Show member pathways
13.34 MAP2K1 KRAS EPHB4 CCNH
3
Show member pathways
12.75 MAP2K1 KRAS EPHB4
4
Show member pathways
12.61 RASA1 MAP2K1 KRAS
5
Show member pathways
12.56 RASA1 MAP2K1 KRAS
6 12.53 RASA1 MAP2K1 KRAS
7
Show member pathways
12.44 MAP2K1 KRAS EPHB4
8
Show member pathways
12.28 RASA1 MAP2K1 EPHB4
9
Show member pathways
12.12 RASA1 MAP2K1 KRAS
10
Show member pathways
12.08 RASA1 MAP2K1 KRAS
11 12.06 RASA1 MAP2K1 KRAS
12
Show member pathways
12.04 KRAS MAP2K1 RASA1
13
Show member pathways
11.99 RASA1 MAP2K1 KRAS
14 11.82 RASA1 MAP2K1
15 11.81 RASA1 MAP2K1 KRAS
16
Show member pathways
11.79 MAP2K1 KRAS
17
Show member pathways
11.78 MAP2K1 KRAS
18
Show member pathways
11.77 RASA1 MAP2K1
19
Show member pathways
11.75 RASA1 MAP2K1
20 11.73 MAP2K1 KRAS
21
Show member pathways
11.73 RASA1 MAP2K1 KRAS
22 11.72 MAP2K1 KRAS
23
Show member pathways
11.69 MAP2K1 KRAS
24 11.64 KRAS MAP2K1
25
Show member pathways
11.59 RASA1 KRAS
26
Show member pathways
11.59 RASA1 MAP2K1 KRAS
27
Show member pathways
11.55 MAP2K1 KRAS
28 11.54 MAP2K1 KRAS
29 11.45 RASA1 MAP2K1
30 11.42 RASA1 MAP2K1 KRAS
31
Show member pathways
11.41 MAP2K1 KRAS
32
Show member pathways
11.4 MAP2K1 KRAS
33
Show member pathways
11.37 RASA1 MAP2K1
34 11.34 RASA1 MAP2K1
35
Show member pathways
11.33 MAP2K1 RASA1
36
Show member pathways
11.31 RASA1 MAP2K1
37 11.23 MAP2K1 KRAS
38
Show member pathways
11.21 RASA1 MAP2K1 KRAS EPHB4
39 11.19 MAP2K1 KRAS
40
Show member pathways
11.18 RASA1 MAP2K1 KRAS
41 11.16 MAP2K1 KRAS
42 11.16 MAP2K1 KRAS
43 11.11 MAP2K1 KRAS
44
Show member pathways
11.04 RASA1 KRAS
45 11 MAP2K1 KRAS
46 10.76 RASA1 KRAS

GO Terms for Capillary Malformation-Arteriovenous Malformation 1

Biological processes related to Capillary Malformation-Arteriovenous Malformation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein serine/threonine kinase activity GO:0071902 9.13 MAP2K1 KRAS
2 ephrin receptor signaling pathway GO:0048013 8.92 RASA1 EPHB4

Molecular functions related to Capillary Malformation-Arteriovenous Malformation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activator activity GO:0043539 8.8 MAP2K1 KRAS

Sources for Capillary Malformation-Arteriovenous Malformation 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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