Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
CS is part of a larger syndrome called PTEN hamartomatous syndrome, which also includes Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (Eng, 2014).
|
25158662 |
2014 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease.
|
17427195 |
2007 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The concept of linear Cowden nevus implies that Proteus syndrome is by no means caused by PTEN mutations.
|
17337396 |
2007 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
|
17286265 |
2007 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
|
16704655 |
2006 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome.
|
16379592 |
2005 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients.
|
15372512 |
2004 |
Proteus Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Finding germline PTEN mutations in patients with BRRS, PS, and PSL suggests equivalent risks of developing malignancy as in CS with implications for medical management.
|
12938083 |
2003 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of PTEN have been shown to cause Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome.
|
12620973 |
2003 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL).
|
12938083 |
2003 |
Proteus Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
|
12471211 |
2002 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
|
12471211 |
2002 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome.
|
11748304 |
2001 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
PTEN mutations are uncommon in Proteus syndrome.
|
11476065 |
2001 |
Proteus Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.
|
11476841 |
2001 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome.
|
11748304 |
2001 |
Proteus Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.
|
11476841 |
2001 |
Proteus Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|