22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan-McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities.
|
31788990 |
2020 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene.
|
30302388 |
2019 |
22q13.3 Deletion Syndrome
|
1.000 |
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 |
22q13.3 Deletion Syndrome
|
1.000 |
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 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Phelan-McDermid syndrome is caused by haploinsufficiency of SHANK3 on terminal chromosome 22.
|
30396833 |
2019 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Shank3, a postsynaptic scaffolding protein involved in regulating excitatory synapse assembly and function, has been implicated in several brain disorders, including autism spectrum disorders (ASD), Phelan-McDermid syndrome, schizophrenia, intellectual disability, and mania.
|
31275112 |
2019 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations.
|
31319798 |
2019 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation or disruption of the SH3 and ankyrin repeat domains 3 (SHANK3) gene represents a highly penetrant, monogenic risk factor for autism spectrum disorder, and is a cause of Phelan-McDermid syndrome.
|
31189958 |
2019 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
|
29719671 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the SHANK3 human gene leads to different neuropsychiatric diseases including Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome.
|
29988084 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletions and mutations in the SHANK3 gene are strongly associated with autism spectrum disorder and underlie the autism-associated disorder Phelan-McDermid syndrome.
|
30064494 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome.
|
28753255 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mutations or altered protein levels of SHANK3 are implicated in neurodevelopmental disorders such as Phelan-McDermid syndrome, autism spectrum disorders, and schizophrenia (Guilmatre et al., 2014).
|
29735556 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan-McDermid syndrome.
|
29052348 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
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 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phelan-McDermid syndrome is related to terminal 22q13 deletions of various sizes affecting the SHANK3 gene.
|
30089781 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
|
29377611 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features.
|
29423971 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this "<i>Perspectives</i>" article, we review and comment on current advances in Shank3 research and include some original data that show common Shank3 deficits in a number of seemingly unrelated human neurological disorders that include sporadic Alzheimer's disease (AD), autism spectrum disorder (ASD), bipolar disorder (BD), Phelan-McDermid syndrome (PMS; 22q13.3 deletion syndrome), and schizophrenia (SZ).
|
29321759 |
2017 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
SHANK3 (also called PROSAP2) genetic haploinsufficiency is thought to be the major cause of neuropsychiatric symptoms in Phelan-McDermid syndrome (PMS).
|
27021819 |
2017 |
22q13.3 Deletion Syndrome
|
1.000 |
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 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
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 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability.
|
28754298 |
2017 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD).
|
26847545 |
2016 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals.
|
26725465 |
2016 |