MCID: RS1001
MIFTS: 8

Rasa1-Related Disorders

Aliases & Classifications for Rasa1-Related Disorders

MalaCards integrated aliases for Rasa1-Related Disorders:

Name: Rasa1-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is 90%-99% based on the following studies:...

Summaries for Rasa1-Related Disorders

MalaCards based summary : Rasa1-Related Disorders is related to capillary malformation-arteriovenous malformation 1 and arteriovenous malformation. An important gene associated with Rasa1-Related Disorders is RASA1 (RAS P21 Protein Activator 1).

GeneReviews: NBK52764

Related Diseases for Rasa1-Related Disorders

Diseases related to Rasa1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 1 10.1
2 arteriovenous malformation 10.1
3 lymphatic malformations 10.1
4 parkes weber syndrome 10.1
5 weber syndrome 10.1
6 angioosteohypertrophic syndrome 10.1
7 lymphedema 10.1
8 rare surgical neurologic disease 10.1

Graphical network of the top 20 diseases related to Rasa1-Related Disorders:



Diseases related to Rasa1-Related Disorders

Symptoms & Phenotypes for Rasa1-Related Disorders

Drugs & Therapeutics for Rasa1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Rasa1-Related Disorders

Genetic Tests for Rasa1-Related Disorders

Anatomical Context for Rasa1-Related Disorders

Publications for Rasa1-Related Disorders

Articles related to Rasa1-Related Disorders:

(show all 30)
# Title Authors PMID Year
1
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. 38 4
26969842 2016
2
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 4
26499346 2016
3
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). 4
26268729 2016
4
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. 4
26096958 2015
5
Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. 4
25040287 2015
6
Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome. 4
23829194 2015
7
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 4
24038909 2013
8
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. 4
23933248 2013
9
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. 4
23662773 2013
10
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. 4
23687085 2013
11
Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. 4
23650393 2013
12
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. 4
23656586 2013
13
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. 4
23801933 2013
14
Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis. 4
23165854 2012
15
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. 4
22342634 2012
16
RASA1 analysis: clinical and molecular findings in a series of consecutive cases. 4
22200646 2012
17
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 4
21626678 2011
18
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome. 4
20821215 2011
19
A novel association between RASA1 mutations and spinal arteriovenous anomalies. 4
20007727 2010
20
A novel mutation in RASA1 causes capillary malformation and limb enlargement. 4
18327598 2008
21
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 4
18446851 2008
22
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. 4
18363760 2008
23
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. 4
18216519 2008
24
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 4
17526801 2007
25
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 4
17392703 2007
26
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 4
14639529 2003
27
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). 4
11845407 2002
28
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. 38
29891884 2018
29
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. 38
23972370 2013
30
RASA1-Related Disorders 38
21348050 2011

Variations for Rasa1-Related Disorders

Expression for Rasa1-Related Disorders

Search GEO for disease gene expression data for Rasa1-Related Disorders.

Pathways for Rasa1-Related Disorders

GO Terms for Rasa1-Related Disorders

Sources for Rasa1-Related Disorders

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
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