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 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 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: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.400 GeneticVariation disease CLINVAR
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 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 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: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GeneticVariation disease ORPHANET Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GeneticVariation disease ORPHANET Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
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 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: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1535926
Disease: Neurodevelopmental Disorders
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
CUI: C1535926
Disease: Neurodevelopmental Disorders
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