PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
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 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 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 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 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation disease CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 GeneticVariation disease CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 GeneticVariation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
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 CausalMutation disease CLINVAR Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. 25756585 2015
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
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 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 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884 2014
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 CausalMutation disease CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840 2013
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation disease CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934 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 GeneticVariation disease CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation disease CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152 2012
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 GeneticVariation disease CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
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 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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 GeneticVariation disease CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 Biomarker disease CTD_human Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660 2010