|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
|
10749983 |
2000 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
PTEN mutation in a family with Cowden syndrome and autism.
|
11496368 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysregulation of cell growth control by PTEN is associated with the neurological disorder Lhermitte-Duclos disease.
|
12367630 |
2002 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
|
9140396 |
1997 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lhermitte-Duclos disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analysis showed high levels of phospho-AKT and phospho-S6 in the large ganglionic cells forming the lesions, indicating activation of the PTEN/AKT/mTOR pathway and suggesting a central role for mTOR in the pathogenesis of LDD.
|
15835270 |
2005 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
|
11748304 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants.
|
27932596 |
2017 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
|
10353779 |
1999 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This case of Lhermitte-Duclos disease associated with paraspinal AVF and mutation of the PTEN gene suggests a relationship between Lhermitte-Duclos disease and Cowden disease.
|
16998279 |
2006 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
|
21659347 |
2011 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
|
9259288 |
1997 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
|
Lhermitte-Duclos disease
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN.
|
14566704 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
At 6 months before his death, the patient complained of hoarseness and dysphagia, and clinical whole-body examinations revealed advanced lung adenocarcinoma (T4N2M1b, Stage IV), multiple skin verrucas, gastrointestinal polyposis, goiters, and cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease), while PTEN gene mutation was detected in his serum.
|
26376867 |
2015 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
|
10468583 |
1999 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
|
21956414 |
2011 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
|
9259288 |
1997 |