The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

ARSD  -  arylsulfatase D

Homo sapiens

Synonyms: ASD, Arylsulfatase D
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of ARSD


Psychiatry related information on ARSD

  • CONCLUSIONS: The CSDC, an observer-report instrument of ASD and PTSD in children, has important utility in clinical and research settings [6].
  • We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental retardation [7].
  • It can be hoped that many individuals currently diagnosed as ASD, primary dementia, senile dementia, or OBS and relegated to a custodial or nursing-home existence would respond to treatment sufficiently to enjoy a better existence in their remaining years [8].
  • This study investigated acutely traumatized participants with either acute stress disorder (ASD; n = 15) or no ASD (n = 14) and nontraumatized comparison participants (n = 16) [9].
  • High functioning children with a diagnosis of autism or Asperger's syndrome (HF-ASD) often experience difficulties organising goal-directed actions in their day-to-day lives, requiring support to schedule daily activities [10].

High impact information on ARSD

  • These results strongly support the model that S(MK) box translational repression operates through occlusion of the ribosome binding site and that SAM binding requires the SD-ASD pairing [11].
  • ARSD is clinically heterogeneous and is likely to result from mutations in developmental genes or from regulating transcription factors [12].
  • Closure of ASD: what aggravates the migrainous diathesis [13]?
  • Trisomy 14 mosaicism with 6% trisomic cells in blood and 16% in skin fibroblasts was found in a 2 year 2 month old girl with mild psychomotor retardation, craniofacial dysmorphism, pectus carinatum, curved fifth fingers, retarded bone age, and signs of an ASD [14].
  • MEG-A2 cells showed positive phenotypes for periodic acid Schiff and alpha-naphthylbutyrate esterase reactions, but were negative for myeloperoxidase and naphthol ASD chloroacetate esterase reactions [15].

Chemical compound and disease context of ARSD

  • We report the first case in the world literature of a patient with an atrial septal defect, severe pulmonary hypertension, and equalization of pulmonary and systemic pressures, who underwent successful closure of an ASD following prolonged therapy with the intravenous vasodilator epoprostenol [16].

Biological context of ARSD

  • We identified a novel protein isoform of the ARSD gene by isolation of a series of cDNA clones from a human testis cDNA library [17].
  • Glycogenin-2 maps between the microsatellite anchor markers AFM319te9 (DXS7100) and AFM205tf2 (DXS1060), and its 3' end is 34.5 kb from the 3' end of the arylsulphatase gene ARSD [18].
  • With lipopolysaccharide (LPS), a stimulant for innate immunity, peripheral blood mononuclear cells (PBMCs) from 59/71 (83.1%) ASD patients produced >2 SD above the control mean (CM) values of TNF-alpha, IL-1beta, and/or IL-6 produced by control PBMCs [19].
  • Use of a donor heart that had undergone previous cardiac surgery for ASD closure [20].
  • Forced vital capacity values (3.51 L, mean SD +/- 1.02) were lower than predicted values (4.10 L, mean SD +/- 0.90, p <0.0001) for all patients groups except those with ASD [21].

Anatomical context of ARSD

  • WEHI-3B-Y1 cells are immature undifferentiated cells which show positive staining for naphthol ASD chloroacetate esterase and alpha-naphthyl butyrate esterase and spontaneously exhibit a low level of differentiation to mature granulocytes and macrophages [22].
  • They were selected on the basis of the morphology of the blast cells on Romanowsky-stained smears of blood and bone marrow, as well as positivity of the cells for the naphthol ASD acetate esterase reaction specifically inhibited by sodium fluoride [23].
  • Eosinophils showed atypical cytochemical reactions with PAS in ten of ten cases studied, with naphthol ASD Chloroacetate in ten of ten cases, and with combined naphthol ASD Chloroacetate esterase- chlorazol fast pink in seven of nine cases tested [24].
  • Postmortem findings include underdeveloped cerebellum, a thymus with moderate depletion of thymocytes, a large PDA, ASD, small adrenal, and fatty change of the liver [25].
  • CONCLUSION: Children with LKSV and ASD have a greater frequency of serum antibodies to brain endothelial cells and to nuclei than children with NNIs or healthy children [26].

Associations of ARSD with chemical compounds


Other interactions of ARSD


Analytical, diagnostic and therapeutic context of ARSD

  • METHODS AND RESULTS: One hundred and thirty-five consecutive ASD-patients, operated on in childhood, were studied longitudinally with ECG, echocardiography, exercise testing and Holter-recording 15 (10-22) and 26 (21-33) years after surgery [4].
  • Multislice continuous arterial spin labeling (CASL) using alternating single adiabatic inversion (SAI) and double adiabatic inversion (DAI) (ASD) suffers from control inefficiencies that reduce the perfusion signal-to-noise ratio (SNR) [32].
  • N-ANP levels in the peripheral blood sample from ASD patients before surgery were significantly higher than those in the control group [33].
  • After ASD closure using hypothermia instead of cardiopulmonary bypass, the incidence of dysrhythmias was significant lower [34].
  • MR guidance has been used recently to navigate endovascular catheters and deliver stents in large (aorta and pulmonary) and small (coronary, renal, and femoral) arteries, place ASD closure devices, deliver pulmonary valve stents, guide cardiac RF ablations, and perform intramyocardial injections [35].


  1. Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. Koeberl, D.D., McGillivray, B., Sybert, V.P. Am. J. Hum. Genet. (1995) [Pubmed]
  2. Isolated pulmonary vein stenosis in complex congenital heart disease, simulating cor triatriatum by cardiac catheterization and transoesophageal echocardiography. Cromme-Dijkhuis, A.H., Bogers, A.J., Hess, J. Eur. Heart J. (1995) [Pubmed]
  3. Unusual traits associated with Robinow syndrome. Sabry, M.A., Ismail, E.A., al-Naggar, R.L., al-Torki, N.A., Farah, S., al-Awadi, S.A., Obenbergerova, D., Bastaki, L. J. Med. Genet. (1997) [Pubmed]
  4. Excellent survival and low incidence of arrhythmias, stroke and heart failure long-term after surgical ASD closure at young age. A prospective follow-up study of 21-33 years. Roos-Hesselink, J.W., Meijboom, F.J., Spitaels, S.E., van Domburg, R., van Rijen, E.H., Utens, E.M., Bogers, A.J., Simoons, M.L. Eur. Heart J. (2003) [Pubmed]
  5. ASD closure for migraine: is there a scientific basis? Gupta, V.K. Eur. Heart J. (2005) [Pubmed]
  6. Child Stress Disorders Checklist: a measure of ASD and PTSD in children. Saxe, G., Chawla, N., Stoddard, F., Kassam-Adams, N., Courtney, D., Cunningham, K., Lopez, C., Hall, E., Sheridan, R., King, D., King, L. Journal of the American Academy of Child and Adolescent Psychiatry. (2003) [Pubmed]
  7. Pseudoaminopterin syndrome. Verloes, A., Bricteux, G., Koulischer, L. Am. J. Med. Genet. (1993) [Pubmed]
  8. Subcortical dementia: a clinical approach. Benson, D.F. Advances in neurology. (1983) [Pubmed]
  9. Directed forgetting in acute stress disorder. Moulds, M.L., Bryant, R.A. Journal of abnormal psychology. (2002) [Pubmed]
  10. High functioning children with autism spectrum disorder: a novel test of multitasking. Mackinlay, R., Charman, T., Karmiloff-Smith, A. Brain and cognition. (2006) [Pubmed]
  11. S-adenosylmethionine directly inhibits binding of 30S ribosomal subunits to the SMK box translational riboswitch RNA. Fuchs, R.T., Grundy, F.J., Henkin, T.M. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  12. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Turnpenny, P.D., Bulman, M.P., Frayling, T.M., Abu-Nasra, T.K., Garrett, C., Hattersley, A.T., Ellard, S. Am. J. Hum. Genet. (1999) [Pubmed]
  13. Closure of ASD: what aggravates the migrainous diathesis? Gupta, V.K. Eur. Heart J. (2006) [Pubmed]
  14. Trisomy 14 mosaicism in a 2 year old girl. Petersen, M.B., Vejerslev, L.O., Beck, B. J. Med. Genet. (1986) [Pubmed]
  15. Establishment and characterization of an immature human megakaryoblastic cell line, MEG-A2. Abe, A., Emi, N., Kato, H., Adachi, K., Murate, T., Saga, S., Ogura, M., Kojima, T., Tanimoto, M., Morishita, N. Leukemia (1995) [Pubmed]
  16. Reversal of pulmonary hypertension and subsequent repair of atrial septal defect after treatment with continuous intravenous epoprostenol. Frost, A.E., Quiñones, M.A., Zoghbi, W.A., Noon, G.P. J. Heart Lung Transplant. (2005) [Pubmed]
  17. Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. Urbitsch, P., Salzer, M.J., Hirschmann, P., Vogt, P.H. DNA Cell Biol. (2000) [Pubmed]
  18. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. Zhai, L., Mu, J., Zong, H., DePaoli-Roach, A.A., Roach, P.J. Gene (2000) [Pubmed]
  19. Proinflammatory and regulatory cytokine production associated with innate and adaptive immune responses in children with autism spectrum disorders and developmental regression. Jyonouchi, H., Sun, S., Le, H. J. Neuroimmunol. (2001) [Pubmed]
  20. Use of a donor heart that had undergone previous cardiac surgery for ASD closure. Loebe, M., Koerner, M.M., Zener, J., Lafuente, J.A., Torre-Amione, G., Noon, G.P. J. Heart Lung Transplant. (2002) [Pubmed]
  21. Aerobic capacity in adults with various congenital heart diseases. Fredriksen, P.M., Veldtman, G., Hechter, S., Therrien, J., Chen, A., Warsi, M.A., Freeman, M., Liu, P., Siu, S., Thaulow, E., Webb, G. Am. J. Cardiol. (2001) [Pubmed]
  22. Growth and differentiation of a murine interleukin-3-producing myelomonocytic leukemia cell line in a protein-free chemically defined medium. Kajigaya, Y., Ikuta, K., Sasaki, H., Matsuyama, S. Leukemia (1990) [Pubmed]
  23. Pure acute monocytic leukemia. A study of 12 cases. Sultan, C., Imbert, M., Ricard, M.F., Sebaoun, G., Marquet, M., Brun, B., Forgues, L. Am. J. Clin. Pathol. (1977) [Pubmed]
  24. A morphologic and cytochemical study of acute myelomonocytic leukemia with abnormal marrow eosinophils associated with inv(16)(p13q22). Bitter, M.A., Le Beau, M.M., Larson, R.A., Rosner, M.C., Golomb, H.M., Rowley, J.D., Vardiman, J.W. Am. J. Clin. Pathol. (1984) [Pubmed]
  25. Omphalocele and partial trisomy 1q syndrome. Chen, H., Gershanik, J.J., Mailhes, J.B., Sanusi, I.D. Hum. Genet. (1979) [Pubmed]
  26. Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders. Connolly, A.M., Chez, M.G., Pestronk, A., Arnold, S.T., Mehta, S., Deuel, R.K. J. Pediatr. (1999) [Pubmed]
  27. Pulmonary-to-systemic blood flow ratio effects of sevoflurane, isoflurane, halothane, and fentanyl/midazolam with 100% oxygen in children with congenital heart disease. Laird, T.H., Stayer, S.A., Rivenes, S.M., Lewin, M.B., McKenzie, E.D., Fraser, C.D., Andropoulos, D.B. Anesth. Analg. (2002) [Pubmed]
  28. Primary human acute myeloblastic leukaemia: an analysis of in vitro granulocytic maturation following stimulation with retinoic acid and G-CSF. Colombat, P., Santini, V., Delwel, R., Krefft, J., Bredmond, J.L., Löwenberg, B. Br. J. Haematol. (1991) [Pubmed]
  29. Histochemistry of blood and bone marrow smears of the straw-coloured fruit-eating bat, Eidolon helvum. Caxton-Martins, A.E. J. Anat. (1977) [Pubmed]
  30. Lineage ambiguity in acute leukemia. Roberts, G.T., el Badawi, S.B., Sackey, K., Spence, D., Sheth, K.V., Aur, R.J. Cancer (1986) [Pubmed]
  31. Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. Savarirayan, R., Boyle, R.J., Masel, J., Rogers, J.G., Sheffield, L.J. Am. J. Med. Genet. A (2004) [Pubmed]
  32. Simple model of double adiabatic inversion (DAI) efficiency. Gach, H.M., Dai, W. Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. (2004) [Pubmed]
  33. Atrial natriuretic peptide levels in adult patients before and after surgery for correction of atrial septal defects: relationship with atrial arrhythmias. Erbay, A.R., Yilmaz, M.B., Balci, M., Sabah, I. Clin. Sci. (2004) [Pubmed]
  34. Dysrhythmias after atrial surgery in children. Bink-Boelkens, M.T., Velvis, H., van der Heide, J.J., Eygelaar, A., Hardjowijono, R.A. Am. Heart J. (1983) [Pubmed]
  35. Endovascular interventional MRI. Henk, C.B., Higgins, C.B., Saeed, M. Journal of magnetic resonance imaging : JMRI. (2005) [Pubmed]
WikiGenes - Universities