|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
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 |
|
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 |
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 |
|
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 |
|
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 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
|
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 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
|
16007494 |
2005 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Appendectomy, tonsillectomy, and neoplasia.
|
1097835 |
1975 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
|
11476841 |
2001 |
|
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 |
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
|
22266152 |
2012 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
|
19321504 |
2009 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.
|
14574156 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
|
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 |
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 |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
|
9286463 |
1997 |