Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Maffucci syndrome is a rare genetic disease due to somatic mutation of IDH1 gene.
|
30977938 |
2019 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors.
|
29339836 |
2018 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS.
|
30579273 |
2018 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.
|
28544751 |
2017 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome.
|
28845532 |
2017 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.
|
26473790 |
2016 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations.
|
27036230 |
2016 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the multiple somatic mutations of the IDH1 and NPM1 genes in hemangioblasts are related to the development of cup-like AML associated with Maffucci syndrome.
|
26508204 |
2015 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic mosaic IDH1/2 mutations are also reported in Ollier disease and Maffucci syndrome, which are characterized by multiple central cartilaginous tumors.
|
24403254 |
2013 |
Maffucci Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Maffucci Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Maffucci Syndrome
|
0.700 |
SomaticCausalMutation
|
disease |
ORPHANET |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Maffucci Syndrome
|
0.700 |
SomaticCausalMutation
|
disease |
ORPHANET |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Maffucci Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Maffucci Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Maffucci Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Maffucci Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|