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: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome
0.010 GeneticVariation disease BEFREE The most common anomaly was ASD type II - 23 patients (27.3%) and WPW - Wolff-Parkinson-White's syndrome - 9 patients (10.7%). 29305187 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
0.020 Biomarker disease BEFREE The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS. 29671106 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
0.020 Biomarker disease BEFREE These findings bear strong resemblance to the pattern seen in ASD and emphasize the need for development of anxiety interventions that attempt to reduce negative beliefs about unpredictable situations in WS. 29948532 2018
CUI: C0042963
Disease: Vomiting
Vomiting
0.010 Biomarker phenotype BEFREE Additionally, deep phenotyping revealed overlapping behavioral problems (ASD, ADHD, and anxiety disorders), hypotonia, broad-based gait, facial dysmorphisms, and periods of fever and vomiting. 28343630 2017
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.020 Biomarker group BEFREE ASD and VSD patients have abnormal heart rate responses to exercise after surgical closure, which indicates a need of change in the preoperative information given to these patients and their parents before surgical defect closure. 28592193 2017
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.020 GeneticVariation group BEFREE Patients were divided into ventricular septal defect (VSD) group and AP group (ie, patients with ASD or PFO) based on the type of defects. 30444273 2018
CUI: C0233558
Disease: Temper tantrum
Temper tantrum
0.010 Biomarker phenotype BEFREE In a comparison of 169 minimally-verbal and 177 fluently-verbal 4 to 20-year-old psychiatric inpatients with ASD, the severity of self-injurious behavior, stereotyped behavior, and irritability (including aggression and tantrums) did not significantly differ, when controlling for age and NVIQ. 28597186 2018
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
Symphysis Pubis Dysfunction
0.010 Biomarker disease BEFREE The ASD group did, however, show lower empathy and higher systemizing scores than the SPD group. 28579480 2018
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.010 Biomarker disease BEFREE For secundum ASD, a deficient retro-aortic rim is common (40% of cases) However, the deficient retro-aortic rim had no effect on ASD device placement success or immediate outcome The IMPACT Registry does not track long-term outcome, so there is no information provided about long-term complications, such as erosion. 28116865 2017
CUI: C0038441
Disease: Stress Disorders, Traumatic
Stress Disorders, Traumatic
0.020 GeneticVariation group BEFREE Trauma and stress-related disorders (e.g., Acute Stress Disorder; ASD and Post-Traumatic Stress Disorder; PTSD) that develop following a traumatic event are characterized by cognitive-affective dysfunction. 28478230 2017
CUI: C0038441
Disease: Stress Disorders, Traumatic
Stress Disorders, Traumatic
0.020 GeneticVariation group BEFREE Stress disorder (ASD or PTSD) related to BC was diagnosed in 6 (3.6%) of 166 patients before treatment and in 3 patients (2.0%) 1 year later. 26898732 2017
CUI: C0037789
Disease: Specific reading disorder
Specific reading disorder
0.010 Biomarker phenotype BEFREE Children with ASD have a different reading profile from other reading disorders that needs to be specifically targeted in interventions. 28856093 2017
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
0.010 Biomarker disease BEFREE Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD. 27771801 2017
CUI: C0234233
Disease: Sore to touch
Sore to touch
0.010 GeneticVariation phenotype BEFREE This study investigated the effectiveness of visible-near-infrared (VISNIR) spectroscopy at classifying Australian lamb for: a) ultimate pH (pH 24), b) meat tenderness (i.e. shear force at day 5 of ageing, SF5) and c) intramuscular fat (IMF) content at 24 h post-slaughter using a custom-made handheld probe coupled with the ASD Labspec Pro instrument. 31102991 2019
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
0.010 Biomarker 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: C3887524
Disease: Skin Erosion
Skin Erosion
0.010 Biomarker disease BEFREE For secundum ASD, a deficient retro-aortic rim is common (40% of cases) However, the deficient retro-aortic rim had no effect on ASD device placement success or immediate outcome The IMPACT Registry does not track long-term outcome, so there is no information provided about long-term complications, such as erosion. 28116865 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.020 GeneticVariation disease BEFREE The multitude and diversity of known ASD genes has extended the clinical notion that ASD comprises very heterogeneous conditions ranging from severe intellectual disabilities to mild high-functioning forms. 28551748 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.020 GeneticVariation disease BEFREE Group 1 comprised two children (6%) with severe intellectual disability (one Mowat-Wilson syndrome and one ASD). 28947381 2018
CUI: C0036572
Disease: Seizures
Seizures
0.030 GeneticVariation phenotype BEFREE This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. 18627038 2008
CUI: C0036572
Disease: Seizures
Seizures
0.030 Biomarker phenotype BEFREE To our knowledge, this is the first report of a case of a de novo variant of 7q31.32 duplication, showing dysmorphic anomalies and neurologic impairment including ASD and seizures. 31707317 2019
CUI: C0036572
Disease: Seizures
Seizures
0.030 Biomarker phenotype BEFREE Interestingly, rats bred to be seizure-prone (Fast), unlike those bred for seizure-resistance (Slow), naturally exhibit behaviors and physiology reminiscent of ADHD/ASD in humans, suggesting a fundamental link between seizure disposition and these developmental disorders. 19596053 2009
CUI: C1853235
Disease: Sclerocornea
Sclerocornea
0.010 Biomarker disease BEFREE Recessive pathogenic variants in <i>CYP1B1</i> were identified in two PCG pedigrees, three cases with CG and ASD, and two families with CG and other ocular defects, such as sclerocornea in one patient and microphthalmia in another individual; neither sclerocornea nor microphthalmia has been previously associated with <i>CYP1B1</i>. 27777502 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 Biomarker disease BEFREE However existing accounts fail to clarify: (i) how proposed theories differ in accounts of ASD vs. schizophrenia and (ii) whether the impairments result from weaker priors or enhanced likelihoods. 29757142 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 AlteredExpression disease BEFREE The dramatic effect on the expression of some SZ and ASD genes places HS, and perhaps other cellular stressors, into a common conceptual framework with disease-causing genetic variants. 24736721 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 Biomarker disease BEFREE In this UK population-based cohort study, 7921 mothers with genotype data from the Avon Longitudinal Study of Parents and Children (ALSPAC) underwent testing for association of maternal PRS for attention-deficit/hyperactivity disorder (ADHD PRS), autism spectrum disorder (ASD PRS), and schizophrenia (SCZ PRS) with 32 early-life exposures. 31042271 2019