PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group BEFREE Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Individuals with PTCHD1 deletion show symptoms of ADHD, sleep disruption, hypotonia, aggression, ASD, and ID. 27007844 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Deleterious mutations in patchd1 domain containing 1 (PTCHD1) gene have been identified in patients with intellectual disability and/or autism spectrum disorder (ASD). 31515500 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE No rare missense PTCHD1 variants were found in our ASD cohort and only one was identified in the ID sample. 25782667 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability. 20844286 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. 28416808 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease BEFREE Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. 29118110 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease BEFREE Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 GeneticVariation disease BEFREE Subsequently, this male individual was found to have a missense mutation in the X-linked PTCHD1 autism susceptibility gene, which may also contribute to the phenotype. 21114665 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE This strategy has proven largely successful in identifying ASD-susceptibility candidate loci, including gains and losses at 16p11.2, SHANK2, NRXN1, and PTCHD1. 22228009 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. 28416808 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability. 20844286 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease BEFREE We next determined possible involvement of the kynurenine pathway (KP) metabolites in neurodevelopmental disorders in Ptchd1 KO mice and assessed the potential of KP metabolites as biomarkers for ADHD and/or ASD. 31515500 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE No rare missense PTCHD1 variants were found in our ASD cohort and only one was identified in the ID sample. 25782667 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease BEFREE This finding seemed interesting, given recent discoveries on the role of another Patched-domain containing gene (PTCHD1) in ASD. 21439084 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE We also found a novel ASD-associated deletion of PTCHD1-AS exon 3 and showed that exon 3 loss altered PTCHD1-AS splicing without affecting expression of the neighboring PTCHD1 coding gene. 31540669 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE Recently, gene mutations in patched domain containing 1 (PTCHD1) have been found in ~1% of patients with ID and ASD. 27007844 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease BEFREE Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.210 GeneticVariation disease 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
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.120 Biomarker disease 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
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.120 GeneticVariation disease 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
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.110 GeneticVariation disease 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
CUI: C1535926
Disease: Neurodevelopmental Disorders
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