PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Lhermitte-Duclos disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE It remains unclear whether all cases of LDD, even without features of CS, are caused by germline PTEN mutation and whether somatic PTEN mutation occurs in sporadic LDD. 14566704 2003
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE Mutations of PTEN can also be found in patients with Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). 17941496 2007
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos disease - only the mutated allele was expressed in the cerebellar tumor. 9852626 1998
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD. 12690565 2003
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker disease BEFREE PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease. 12655146 2003
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. 10051160 1999
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE The diagnosis of Cowden syndrome with PTEN gene mutation, linked to higher risk of neoplasia and occurrence of hamartomatous lesions characteristic of the Lhermitte-Duclos disease (LDD), was confirmed by genetic investigation. 30153148 2018
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation. 25756585 2015
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE In addition, the differential PTEN mutation status with corresponding LDD phenotypes suggests a potential correlation between germline or somatic mutation and coexisting LDD/CS or isolated LDD, respectively. 24102544 2014
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE A candidate tumour suppressor gene, PTEN, has recently been identified within chromosome 10q23, the locus of the Cowden syndrome/Lhermitte Duclos disease susceptibility gene. 9764804 1998
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker disease BEFREE Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex. 30905649 2019
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease BEFREE 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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 CausalMutation disease CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 CausalMutation disease CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840 2013
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 GeneticVariation disease CLINVAR Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. 22261759 2012
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 CausalMutation disease CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583 1999