Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Haploinsufficiency of SHANK3 causes Phelan-McDermid syndrome and autism, whereas duplication of the same gene leads to SHANK3 duplication syndrome, a disorder characterized by neuropsychiatric phenotypes including hyperactivity and bipolar disorder as well as epilepsy. 30696942 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Autism-associated Shank3 mutations alter mGluR expression and mGluR-dependent but not NMDA receptor-dependent long-term depression. 30868621 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations. 30643170 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE To address this, we used mouse models of haploinsufficiency of the Shank3 gene (a highly penetrant monogenic autism risk factor), which exhibits prominent autism-like social deficits. 30659288 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Collectively, our results reveal a critical role of SHANK3 in the development of prefrontal anatomy and function, and suggest that SHANK3 deficiency may predispose to intellectual disability and socio-communicative impairments via dysregulation of higher-order cortical connectivity.<b>SIGNIFICANCE STATEMENT</b> Mutations in the synaptic scaffolding protein SHANK3 are commonly associated with autism, intellectual, and language deficits. 31061091 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Haploinsufficiency of Shank3, which encodes a scaffold protein at glutamatergic synapses, is causally linked to autism. 29760409 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Shank3 mutation in a mouse model of autism leads to changes in the S-nitroso-proteome and affects key proteins involved in vesicle release and synaptic function. 29988084 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We introduce findings in a rat model, and assess the impact of mutations in Shank3, an autism risk gene. 29377611 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Considering that neurodevelopmental conditions, such as autism, have a strong genetic etiology, it is necessary to understand if genes associated with neurodevelopmental disorders, such as Shank3, can influence the gut microbiome, and if probiotics can be a therapeutic tool. 29787855 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Publisher Correction: Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition. 29872123 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition. 29531362 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE Human SHANK3 mRNA shows developmentally regulated dendritic localization in hiPSC-derived neurons, which is reduced in neurons generated from a haploinsufficient individual with autism. 30064494 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. 29423971 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Here, we utilized the Shank3B mutant mouse model of autism to investigate how Shank3 mutation may differentially affect striatonigral (direct pathway) and striatopallidal (indirect pathway) medium spiny neurons (MSNs) and its relevance to repetitive grooming behavior in Shank3B mutant mice. 28414301 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE SHANK3 mutations are associated with autism, and patients with autism are known to have higher proportions of inflammatory bowel disease. 28906292 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE These results demonstrate for the first time in this novel Shank3 mutant that both homozygous and heterozygous mutation of Shank3 lead to behavioral abnormalities with face validity for autism along with widespread synaptic dysfunction.Autism Res 2017, 10: 42-65. 27492494 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability. 28754298 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3. 28345660 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome. 27333044 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Our data suggest that SHANK3 mutations predispose to autism, at least partially, by inducing an Ih channelopathy that may be amenable to pharmacological intervention. 26966193 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE With the recent report that SHANK3 mutations are present in approximately 2% of individuals with moderate to severe intellectual disabilities and 1% of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations. 27554343 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Here, we describe a complete knockout mouse model of the autism-associated Shank3 gene, with a deletion of exons 4-22 (Δe4-22). 27161151 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Using combined behavioral, electrophysiological, biochemical, imaging, and molecular approaches, we find that Shank3-deficient mice exhibit autism-like social deficits and repetitive behaviors, as well as the significantly diminished NMDA receptor (NMDAR) synaptic function and synaptic distribution in prefrontal cortex. 26027926 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region. 23897824 2013