CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4.
|
31746477 |
2020 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.
|
31230861 |
2019 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
How RASA1 mutations in endothelial cells (EC) result in vascular lesions in CM-AVM is unknown.
|
31185000 |
2019 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM.
|
30635911 |
2019 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RASA1, a regulator of cardiovascular development, is involved in this pathway and its haploinsufficiency (due to heterozygous mutations) has been identified as the underlying etiology of the autosomal dominant capillary malformation/arteriovenous malformation (CM/AVM).
|
30507091 |
2019 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM.
|
30635911 |
2019 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
|
29120072 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.
|
30026675 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
|
29891884 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
|
29024832 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, RASA1 variants are rarely found in children with sporadic CM of lower limbs without CM-AVM syndrome.
|
29110021 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
|
29120072 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation-arteriovenous malformation syndrome ( RASA1) and hereditary hemorrhagic telangiectasia ( ENG and ACVRL1).
|
29350590 |
2018 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood.
|
28530642 |
2017 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis.
|
28730721 |
2017 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A germline mutation was identified in 23 probands (53.5 ± 14.9%): 8 in ENG (34.8 ± 14.2%), 1 in ACVRL1 (4.3 ± 6%) leading to a diagnosis of HHT, and 14 in RASA1 (60.9 ± 14.4%) leading to a diagnosis of capillary malformation/arteriovenous malformation type 1.No EphB4 gene mutation was identified.
|
29171923 |
2017 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
|
26499346 |
2016 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the follow-up of these three cases with RASA1 gene mutation and comment on the possible role of evaluation for vascular lesions and capillary malformation-arteriovenous malformation syndrome in patients and their families, with intracranial fast-flow shunts.
|
26499346 |
2016 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability.
|
26969842 |
2016 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
|
26096958 |
2015 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations.
|
25040287 |
2015 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The heredity of PWS was 27% (65/240).Twenty-one patients with a positive family history and relatives had no CM-AVM phenotype for mutations in the RASA1 gene.
|
25602354 |
2015 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous arteriovenous malformation (AVM) or arteriovenous fistula to constitute CM-AVM syndrome.
|
23829194 |
2015 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Capillary malformation-arteriovenous malformation (CM-AVM) is a recently described autosomal dominant disorder that results from mutations in RASA1.
|
24168113 |
2014 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in gene RASA1 have been historically associated with capillary malformation-arteriovenous malformation, but sporadic reports of lymphatic involvement have yet to be investigated in detail.
|
23650393 |
2013 |