ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 GeneticVariation disease BEFREE We conducted a meta-synthesis to explore what strategies parents use to manage irritability, non-compliance, challenging behaviour and anxiety in their children with ASD. 29222612 2018
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 GeneticVariation disease BEFREE There was no significant difference in risks for ADHD (OR = 1.563; 95% CI, 1.382-1.769); sleep disorders (OR = 2.100; 95% CI, 1.322-3.336); anxiety (OR = 1.339; 95% CI, 1.062-1.687); depression (OR = 1.402 95% CI, 1.256-1.565); conduct disorder (OR = 1.494 95% CI, 1.230-1.815); or ASD (OR = 2.574; 95% CI, 1.469-4.510; <i>Q</i><sub>b</sub> = 8.344, <i>p</i> = 0.138). 31447731 2019
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 GeneticVariation disease BEFREE As expected, many of these include animal model equivalents of the "core" phenotypes associated with ASD, such as impairments in social behavior and repetitive behavior, as well as several comorbid features of ASD including anxiety, seizures, and motor-control deficits. 30911366 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.100 GeneticVariation group BEFREE We conducted a meta-synthesis to explore what strategies parents use to manage irritability, non-compliance, challenging behaviour and anxiety in their children with ASD. 29222612 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.100 GeneticVariation group BEFREE As expected, many of these include animal model equivalents of the "core" phenotypes associated with ASD, such as impairments in social behavior and repetitive behavior, as well as several comorbid features of ASD including anxiety, seizures, and motor-control deficits. 30911366 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.100 GeneticVariation group BEFREE There was no significant difference in risks for ADHD (OR = 1.563; 95% CI, 1.382-1.769); sleep disorders (OR = 2.100; 95% CI, 1.322-3.336); anxiety (OR = 1.339; 95% CI, 1.062-1.687); depression (OR = 1.402 95% CI, 1.256-1.565); conduct disorder (OR = 1.494 95% CI, 1.230-1.815); or ASD (OR = 2.574; 95% CI, 1.469-4.510; <i>Q</i><sub>b</sub> = 8.344, <i>p</i> = 0.138). 31447731 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.100 GeneticVariation disease BEFREE Since that time, with the growth of genetic investigations particularly in the area of pediatric development, an increasing number of children with autism and related disorders (autistic spectrum disorders, ASD) have been the subject of genetic studies both in the clinical setting and in the wider research environment. 27012322 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.100 GeneticVariation disease BEFREE Serotonin as modulator of behavior and implication of serotonergic dysfunction in ASD etiology corroborates that serotonergic system genes are potential candidates for autism susceptibility. 24291416 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.100 GeneticVariation disease BEFREE These results have significant implications for understanding the neural basis of autism and related neurodevelopmental disorders.<b>SIGNIFICANCE STATEMENT</b> The recurrent ∼600 kb deletion at 16p11.2 (BP4-BP5) is one of the most common genetic etiologies of ASD and, more generally, of neurodevelopmental disorders. 31270155 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.100 GeneticVariation disease BEFREE Then the evidence for a dysfunctional amygdala in autism is presented with a focus on alterations in development, prenatal valproic acid exposure as a model for ASD, and changes in the oxytocin system therein. 29660417 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.100 GeneticVariation disease BEFREE These results suggest that lateral interactions are not altered in ASD at a group-level, but that subtle alterations in such neurobiological processes may underlie the heterogeneity seen in the autism spectrum in terms of sensory perception and behavioral phenotype. 29458075 2018
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 GeneticVariation group BEFREE To investigate possible correlates of generalised anxiety disorder (GAD) in young males with ASD, a test of the mediation effects of sensory features (SF) upon the association between ASD symptoms and GAD was conducted with 150 males aged 6 to 18 years. 30771129 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 GeneticVariation group BEFREE In view of the high prevalence of familial occurrence of secundum ASD (10% of all ASD patients), we recommend screening all first degree relatives of ASD patients for cardiac, conduction and skeletal anomalies. 17462063 2007
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 GeneticVariation group BEFREE We aimed to develop and internally validate a scoring system, the adult spinal deformity surgical decision-making (ASD-SDM) score, to guide the decision-making process for ASD patients aged above 40 years. 31317308 2020
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 GeneticVariation group BEFREE Causative ASD gene mutations were examined in 16 members from a three-generation family, among which 6 individuals were diagnosed as having ASD. 30536060 2018
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 GeneticVariation group BEFREE Doing so represents a first step in evaluating whether ABRs yield potential for informing the etiology of ASD risk and/or ASD symptom profiles. 29603654 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease BEFREE We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. 28540026 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease BEFREE In contrast, the prevalence of schizophrenia increased with age affecting a disproportionately large number of older (≥35 year) adult males (25%), compared to females (7.7%), with ASD. 28188687 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease BEFREE Genetic predisposition scores for schizophrenia and ASD, and the number of genes impacted by rare copy number variants (CNV burden) did not predict global brain tissue volumes. 28763065 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE In this study we used: i) summary statistics from the Psychiatric Genomics Consortium (PGC) GWAS for seven psychiatric disorders; ii) examined all reported CNTNAP2 structural variants in patients and controls; iii) performed cross-disorder analysis of functional or previously associated SNPs; and iv) conducted burden tests for pathogenic rare variants using sequencing data (4,483 ASD and 6,135 schizophrenia cases, and 13,042 controls). 30586385 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE One moderating effect was identified, with child presence during conflict related to higher behavior problems according to mothers in the ASD group but not those in the comparison group. 30407023 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE We investigated the mechanism of impact of poor communication skills and emotional and behavioural problems in children with ASD (22-61 months) on parental psychological distress. 31368058 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE This review addresses the particular issues that attend gene discovery in neuropsychiatric and neurodevelopmental disorders and ASDs in particular, summarizes recent findings in human genetics broadly that are driving the reevaluation of the conventional wisdom regarding the allelic architecture of common psychiatric conditions, reviews selected discoveries in ASDs and their relevance to models of pathology, highlights the conceptual and practical issues raised by the observation of a convergence of ASD genetic risks with distinct psychiatric disorders, and considers the important interplay of studies of neurobiology and genetics in clarifying and extending our understanding of social disability syndromes. 22037497 2011
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE School-based interventions intended to decrease problem behavior for individuals with ASD were reviewed; 46 articles including 84 single case designs and 87 participants were analyzed regarding participant demographics, settings and implementers, intervention components, and study characteristics. 29704142 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE The current study examined bidirectional effects between parenting stress and three domains of child functioning (ASD symptoms, internalizing behavior problems, and externalizing behavior problems) across four time points in 188 families of children with ASD (ages 5-12 years). 30623270 2019