Disease: Premenstrual syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE Shank3, an abundant excitatory postsynaptic scaffolding protein, has been associated with multiple brain disorders, including autism spectrum disorders (ASD) and Phelan-McDermid syndrome (PMS). 31649512 2019
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE Although SHANK3 haploinsufficiency has been associated with the major neurological symptoms of PMS, it cannot explain the clinical variability seen among individuals. 31319798 2019
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 GeneticVariation disease BEFREE However, it is still unclear to what extent SHANK3 deletions contribute to the PMS phenotype, and what other genes nearby are causal to the neurologic disease. 30875393 2019
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE Shank3 is an excitatory postsynaptic scaffolding protein implicated in multiple brain disorders, including autism spectrum disorders (ASD) and Phelan-McDermid syndrome (PMS). 30356810 2018
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 AlteredExpression disease BEFREE Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. 27189882 2017
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE CMA revealed a novel, de novo 5.1 Mb microdeletion of 22q13.31q13.33 not involving SHANK3, a gene typically deleted in PMS. 28576520 2017
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 GeneticVariation disease BEFREE Moreover, augmenting mGlu5-receptor activity by administering 3-Cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide ameliorated the functional and behavioral defects that were observed in Shank3Δ11<sup>-/-</sup> mice, suggesting that pharmaceutical treatments that increase mGlu5 activity may represent a new approach for treating patients that are affected by PMS and SHANK3 mutations. 27021819 2017
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 GeneticVariation disease BEFREE Here, we report the production and characterization of a <i>Shank3</i>-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation. 28139198 2017
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. 29126394 2017
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE The cause of PMS has been isolated to loss of function of one copy of SHANK3, which codes for a master scaffolding protein found in the postsynaptic density of excitatory synapses. 25894671 2015
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 GeneticVariation disease BEFREE The analyses relating the PMS genotype to the behavioral phenotype revealed additional complex relationships with contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments. 26306707 2015
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		0.100 Biomarker disease BEFREE SHANK3 has been described in the Phelan-McDermid syndrome (PMS), but also in autism spectrum disorders (ASD) and schizophrenia associated to moderate to severe intellectual disability (ID) and poor language. 24124131 2014