|
Impaired cognition
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We find that Ptchd1 deficiency in male mice (Ptchd1<sup>-/y</sup>) induces global changes in synaptic gene expression, affects the expression of the immediate-early expression genes Egr1 and Npas4 and finally impairs excitatory synaptic structure and neuronal excitatory activity in the hippocampus, leading to cognitive dysfunction, motor disabilities and hyperactivity.
|
28416808 |
2018 |
|
Dysmorphic features
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that individuals with disruption of the PTCHD1 coding region may have subtle dysmorphic features including a long face, prominent forehead, puffy eyelids and a thin upper lip.
|
25131214 |
2015 |
|
Hyperactive behavior
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
We find that Ptchd1 deficiency in male mice (Ptchd1<sup>-/y</sup>) induces global changes in synaptic gene expression, affects the expression of the immediate-early expression genes Egr1 and Npas4 and finally impairs excitatory synaptic structure and neuronal excitatory activity in the hippocampus, leading to cognitive dysfunction, motor disabilities and hyperactivity.
|
28416808 |
2018 |
|
Hyperactive behavior
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
TRN-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of SK channel activity.
|
27007844 |
2016 |
|
Pervasive Development Disorder
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
|
25131214 |
2015 |
|
Pervasive Development Disorder
|
0.020 |
Biomarker
|
group |
BEFREE |
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
|
20844286 |
2010 |
|
Neurodevelopmental Disorders
|
0.060 |
Biomarker
|
group |
BEFREE |
We also compiled novel and known genetic variants of the PTCHD1 locus to explore the roles of PTCHD1 and PTCHD1-AS in genetic risk for ASD and other neurodevelopmental disorders.
|
31540669 |
2020 |
|
Neurodevelopmental Disorders
|
0.060 |
Biomarker
|
group |
BEFREE |
Our findings indicate that Ptchd1 KO mice can be used as an animal model of human ADHD and/or ASD, and KP metabolites are potential diagnostic biomarkers for neurodevelopmental disorders.
|
31515500 |
2019 |
|
Neurodevelopmental Disorders
|
0.060 |
Biomarker
|
group |
BEFREE |
Thus our results support that PTCHD1 deficiency induces a neurodevelopmental disorder causing excitatory synaptic dysfunction.
|
28416808 |
2018 |
|
Neurodevelopmental Disorders
|
0.060 |
Biomarker
|
group |
BEFREE |
The findings will help to guide ongoing efforts to understand the etiology of neurodevelopmental disorders arising from Ptchd1 deficiency.
|
29118110 |
2017 |
|
Neurodevelopmental Disorders
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors.
|
25131214 |
2015 |
|
Neurodevelopmental Disorders
|
0.060 |
GeneticVariation
|
group |
BEFREE |
We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene.
|
21091464 |
2011 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
|
25131214 |
2015 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
|
25782667 |
2015 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
|
25131214 |
2015 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
|
25782667 |
2015 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
|
23871722 |
2013 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
|
23871722 |
2013 |
|
Cytokine Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
|
22610502 |
2012 |
|
Cytokine Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
|
22610502 |
2012 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
|
21091464 |
2011 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
|
21091464 |
2011 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
|
20844286 |
2010 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
|
20844286 |
2010 |
|
Aggressive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|