Hurler syndrome

genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase

DBpedia resource is: http://dbpedia.org/resource/Hurler_syndrome

Abstract is: Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.

Hurler syndrome is …
instance of (P31):
malformation syndromeQ1401195
class of diseaseQ112193867

sublass of (P279):
mucopolysaccharidosis IQ1906054

External links are
P508BNCF Thesaurus ID21915
P1417Encyclopædia Britannica Online IDscience/Hurler-syndrome
P4317GARD rare disease ID12559
P3827JSTOR topic ID (archived)mucopolysaccharidosis-i
P6366Microsoft Academic ID2777636572
P1748NCI Thesaurus IDC61261
P492OMIM ID607014
607014
P10283OpenAlex IDC2777636572
C2910727661
P1550Orphanet ID93473
P11143WikiProjectMed IDHurler syndrome

P138named afterGertrud HurlerQ2699543

Reverse relations

established from medical condition (P5166)
Q54835960GM00002
Q54835992GM00034
Q54836208GM00415
Q54836457GM00798
Q54836510GM00887
Q54836617GM01034
Q54836622GM01053
Q54836744GM01257
Q54836801GM01391
Q54837142GM01867
Q54842221GM06214
Q54854143GM26656
Q94219283HPS0660
Q111733453HT148A
Q111733454HT148D
Q54906517MPS-KC-iPS 1
Q54906518MPS-KC-iPS 2
Q54906519MPS-MSC-iPS 2
Q98134309UNIGEi001-A

main subject (P921)
Q61953175A 20-year review of the changing pattern of graft failure in cord blood transplant for Hurler syndrome
Q76962482A CHARACTERISTIC BONE MARROW FINDING IN THE HURLER SYNDROME
Q70351309A child with Hurler syndrome
Q50335673A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
Q39273461A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).
Q41501153A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).
Q51953623Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH).
Q69375617An Ultrastructural Comparison of Normal and Hurler Syndrome Dermal Fibroblasts
Q64250400An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States
Q79719170Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation
Q28319588Atypical hurler syndrome without .ALPHA.-L-iduronidase deficiency
Q73052299Bilateral symmetrically increased Tc-99m MDP cranial uptake in Hurler syndrome
Q79552817Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease
Q70283201Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction
Q33765215Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome
Q77157519CARDIOVASCULAR MANIFESTATIONS OF THE HURLER SYNDROME: HEMODYNAMIC AND ANGIOCARDIOGRAPHIC OBSERVATIONS IN 15 PATIENTS
Q81572104Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome
Q39368399Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature
Q84555169Clear cells in the atrioventricular valves of infants with severe human mucopolysaccharidosis (Hurler syndrome) are activated valvular interstitial cells
Q42143690Clinical manifestation of Hurler syndrome in a 7 year old child
Q92751845Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation
Q84477820Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome
Q77156557Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome
Q33993038Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H).
Q30665510Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Q80842206Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study
Q80842188Developmental outcomes in children with Hurler syndrome after stem cell transplantation
Q53180215Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Q39515710Encapsulated engineered myoblasts can cure Hurler syndrome: preclinical experiments in the mouse model
Q36472871Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome
Q38367272Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
Q89779176Erratum: Aldenhoven M, van den Broek BTA, Wynn RF, et al. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation. Blood Adv. 2017;1(24):2236-2242
Q68131589Evaluation of coronary artery disease in the Hurler syndrome by angiography
Q74118516Extensive mongolian spots in an infant with Hurler syndrome
Q37127672Fatal and unanticipated cardiorespiratory disease in a two-year-old child with hurler syndrome following successful stem cell transplant
Q67268129Fiberoptic intubation complicated by pulmonary edema in a 12-year-old child with Hurler syndrome
Q73092644Fludarabine-based protocol for haploidentical peripheral blood stem cell transplantation in Hurler syndrome
Q50504785Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.
Q46832408Foot and ankle abnormalities in the Hurler syndrome: additions to the phenotype
Q31837572Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
Q52178466Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention.
Q58577240Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome
Q52031312Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report.
Q44931975Gross motor development of children with hurler syndrome after umbilical cord blood transplantation.
Q51714921Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation.
Q47395088Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).
Q45888342Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report
Q34557967Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)
Q37284902Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.
Q72809853Heparan sulfate and dermatan sulfate from the liver of a patient with Hurler syndrome: high performance liquid chromatography of their degradation products after incubation with α-l-iduronidase-deficient fibroblasts
Q73968295Heritable disorders of connective tissue. VII. The Hurler syndrome
Q39381088High-dose enzyme replacement therapy in murine Hurler syndrome
Q38118090Hip dysplasia in patients with Hurler syndrome (mucopolysaccharidosis type 1H).
Q39653207Hurler syndrome (Mucopolysaccharidosis type I).
Q44993885Hurler syndrome (a case report)
Q58836805Hurler syndrome or Morquio syndrome: Intelligence required for diagnosing the case
Q51917292Hurler syndrome with a tuft of hair.
Q69180093Hurler syndrome with cardiomyopathy in infancy
Q71450495Hurler syndrome with severe complication in post-bone marrow transplantation course: life threatening interstitial pneumonitis and hypertension
Q52481727Hurler syndrome with special reference to histologic abnormalities of the growth plate.
Q41620413Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein
Q44747596Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group
Q73788691Hurler syndrome: a case report
Q51858113Hurler syndrome: a case report of a 5-year follow-up of dental findings after bone marrow transplantation.
Q67521718Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection
Q87609017Hurler syndrome: orofacial, dental, and skeletal findings of a case
Q53572902Hurler syndrome: past, present, and future.
Q64230256Immune cytopenia post-cord transplant in Hurler syndrome is a forme fruste of graft rejection
Q96170157Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)
Q52221654Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.
Q61915115Intrathecal Enzyme Replacement for Hurler Syndrome
Q90284147Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes
Q63316283Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome
Q48334841Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation
Q61756744Lipid Composition of Whole Brain and Cerebellum in Hurler Syndrome (MPS IH) Mice
Q78757539Lissencephaly and mongolian spots in Hurler syndrome
Q38741428Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model
Q39173635Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
Q61953179Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation in Manchester
Q37329301Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
Q95796871Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome
Q49672044Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome: A Case Report.
Q76408671Long-term corticosteroid therapy in Hurler syndrome
Q35220724Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation
Q37708615Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.
Q48303127Long-term outcome of Hurler syndrome following bone marrow transplantation
Q41522160Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.
Q80102138Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation
Q52727905Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Q63404053MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
Q43986936Mitochondrial budding and morphogenesis of cytoplasmic vacuoles in hepatocytes of children with the hurler syndrome and sanfilippo disease
Q35104361Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements
Q35194898Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area
Q50358176Mucopolysaccharidosis I, Hurler syndrome: a case report
Q38016582Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management
Q68079351Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele
Q30362720Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin.
Q38869195Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.
Q37080149Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.
Q46239675Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation
Q70285072Nephrotic syndrome and hypertension in two children with Hurler syndrome
Q52178596Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation.
Q35600316Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase
Q43690748Oral busulfan pharmacokinetics and engraftment in children with Hurler syndrome and other inherited metabolic storage diseases undergoing hematopoietic cell transplantation
Q84399888Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation
Q99604301Outcome after a cord blood transplantation using busulfan pharmacokinetic targeted myeloablative conditioning for Hurler syndrome
Q79335224Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome
Q51891201Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT).
Q34333060Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning
Q90426093Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes
Q53540810Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzyme post-transplant: a case report.
Q68522296Prenatal diagnosis of the Hurler syndrome: mucopolysaccharide pattern in amniotic fluid
Q70449676Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk
Q68545165Progress report: the influence of plasma infusions on a child with the Hurler syndrome during the first 18 months of life
Q78843933Pulmonary disability in the Hurler syndrome (lipochondrodystrophy): a study of two cases
Q89777548Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
Q74098618Radiological case of the month. Coarctation of the aorta in Hurler syndrome
Q48960909Resolution of obstructive sleep apnea in Hurler syndrome after bone marrow transplantation
Q34763337Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation
Q41337949Simplified assay method of α-l-iduronidase activity in leukocytes for detection of hurler syndrome and its carriers
Q41159487Sleep Apnea in Hurler Syndrome: Looking Beyond the Upper Airway
Q71849821Spinal problems in mucopolysaccharidosis I (Hurler syndrome)
Q68379637Structure of heparitin sulfate in tissues of the Hurler syndrome
Q34272120Study of the Hurler syndrome using cell culture: definition of the biochemical phenotype and the effects of ascorbic acid on the mutant cell
Q48266013Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet.
Q52907916Successful Use of Eltrombopag in a Child With Hurler Syndrome After Haploidentical Hematopoietic Stem Cell Transplantation.
Q80985435Successful treatment of severe heart failure in an infant with Hurler syndrome
Q86654372TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome
Q78465534THE HURLER SYNDROME: A BIOCHEMICAL AND CLINICAL STUDY
Q44929975Temporal and spatial gait characteristics of children with Hurler syndrome after umbilical cord blood transplantation.
Q52772433The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison.
Q39747874The Hurler Syndrome: Treatment of Cultured Hurler Fibroblasts with Normal Human Serum
Q54139445The Hurler syndrome without abnormal mucopolysacchariduria.
Q36271914The Hurler syndrome: a study of cultured lymphoid cell lines
Q71581321The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts
Q37138145The clinical outcome of Hurler syndrome after stem cell transplantation.
Q44589814The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases
Q72310553The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
Q69938118The stylohyoid ligament in Hurler syndrome and related conditions: comparison with normal children
Q52587279Total hip arthroplasty in Hurler syndrome - 8 years follow up - A case report with review of literature.
Q93728965Treatment of Hurler syndrome
Q50750438Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient.
Q84734042Uncontrolled hypertension in a child with Hurler syndrome
Q79070118Urinary acid mucopolysaccharides (AMP) in the Hurler syndrome and Morquio's disease
Q79362053Urinary mucopolysaccharide excretion in the sex-linked form of the Hurler syndrome
Q79096329Usefulness of bone marrow transplantation in the Hurler syndrome
Q90350393ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome
Q67515099[Alpha-L-iduronidase activity in fibroblasts of patients with Hurler syndrome]
Q86344368[Difficult airway in a pediatric patient with mucopolysaccharidosis type I (Hurler syndrome)]
Q87606435[Hurler syndrome: early diagnosis and treatment]
Q74722623[Mucopolysaccharidosis type I (Hurler syndrome, Scheie syndrome)]
Q91629380[Rhinosinusitis in Hurler syndrome patients requiring hematopoietic stem cells transplantation]
Q67521143alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome

The articles in Wikimedia projects and languages

Arabic (ar / Q13955)متلازمة هيرلرwikipedia
azHurler sindromuwikipedia
      Morbus Hurlerwikipedia
      Hurler syndromewikipedia
Persian (fa / Q9168)بیماری هورلرwikipedia
      Hurlerin oireyhtymäwikipedia
      Syndrome de Hurlerwikipedia
      Հուրլերի համախտանիշwikipedia
      Malattia di Hurlerwikipedia
      Zespół Hurlerwikipedia
      Синдром Гурлерwikipedia
      Мукополисахаридоза тип I Hwikipedia
      Hurlers sjukdomwikipedia

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