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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 Biomarker disease BEFREE Cytochemical investigation of leukemic promyelocytes from 25 cases of acute promyelocytic leukemia (M3) disclosed two major cellular differentiation categories: (1) the pure neutrophilic (N) type (16 cases) with strong myeloperoxidase (MPO) and naphthol-ASD chloroacetate esterase (Es-chl), but lacking the monocytic enzyme NaF-sensitive alpha-naphthyl butyrate esterase (Es-b), and (2) the mixed neutrophilic/monocytoid (N/M) type (seven cases) with strong Es-b as well as strong MPO, all cases exhibiting Es-dual (Es-b + Es-chl) positive cells. 2410066 1985
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 GeneticVariation group BEFREE We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.His chromosomes were normal.He died at 19 months. 3565473 1987
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.010 Biomarker disease BEFREE We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.His chromosomes were normal.He died at 19 months. 3565473 1987
CUI: C0546965
Disease: Parachute malformation of mitral valve
Parachute malformation of mitral valve 		0.010 Biomarker disease BEFREE We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.His chromosomes were normal.He died at 19 months. 3565473 1987
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 Biomarker group BEFREE She also has a ASD, type II, with some kind of cardiomyopathy. 3826553 1986
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 Biomarker disease BEFREE In both cases, Ph+ myeloblasts showed positive stain for myeloperoxidase and naphthol ASD chloroacetate esterase, which fulfilled the FAB criteria of acute myelogenous leukemia (AML). 8326735 1993
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.020 Biomarker disease BEFREE He had a large ASD and was ventilated from birth for respiratory distress syndrome. 9237499 1997
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.010 Biomarker disease BEFREE He had a large ASD and was ventilated from birth for respiratory distress syndrome. 9237499 1997
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 Biomarker disease BEFREE He had a large ASD and was ventilated from birth for respiratory distress syndrome. 9237499 1997
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.010 Biomarker group BEFREE We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts. 9415694 1997
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 Biomarker disease BEFREE In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. 9508062 1998
CUI: C0740404
Disease: Limb defects
Limb defects 		0.010 GeneticVariation group BEFREE Syndromes with particular cardiac anomalies, illustrated by VSD (85%) or ASD (90%), frequently include limb defects. 9545093 1998
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis 		0.010 Biomarker disease BEFREE Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. 11675686 2001
CUI: C0024214
Disease: Lymphangiectasis
Lymphangiectasis 		0.010 Biomarker disease BEFREE Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. 11675686 2001
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.020 Biomarker disease BEFREE Some members of the families presented ASD and AV block. 12112663 2002
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		0.010 Biomarker group BEFREE Ten mutations in the gene encoding the transcription factor CSX/NKX2-5 have been described in individuals with ASD and/or atrioventricular conduction defects. 12112663 2002
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.020 Biomarker group BEFREE This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment. 12529712 2003
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 Biomarker disease BEFREE Among the live births 45% had at least one malformation, the most common being VSD, ASD, and hypospadias. 12624135 2003
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 Biomarker disease BEFREE Among the live births 45% had at least one malformation, the most common being VSD, ASD, and hypospadias. 12624135 2003
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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.100 GeneticVariation disease 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: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		0.100 GeneticVariation disease 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: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 GeneticVariation disease 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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 GeneticVariation group BEFREE Approximately half of affected individuals have congenital heart defects (primarily ASD or VSD). 17910072 2007
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.030 GeneticVariation disease BEFREE The comparison of our patients with previously reported deletion cases involving the 15q13q14 region demonstrated a recurrent pattern of developmental anomalies including mild dysmorphic features, cleft palate/bifid uvula, congenital heart defects (PFO or ASD), developmental delay, and learning disabilities. 18561338 2008