MPS1H
MCID: HRL003
MIFTS: 55

Hurler Syndrome (MPS1H)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hurler Syndrome

MalaCards integrated aliases for Hurler Syndrome:

Name: Hurler Syndrome 58 77 54 60 76
Mucopolysaccharidosis Type Ih 58 54 60 76
Mucopolysaccharidosis Ih 58 54 13
Mps1h 54 60 76
Alpha-L-Iduronidase Deficiency 76 74
Mucopolysaccharidosis Type 1h 54 60
Hurler Disease 54 60
Mps1-H 58 54
Mpsih 54 60
Mucopolysaccharidosis Type Ih; Mps1-H 58
Pfaundler-Hurler Syndrome 74
Mucopolysaccharidosis 1h 76
Mucopolysaccharidosis I 74
Hurler Syndrome ) 41
Hurler's Syndrome 76
Mps Ih 76
Mps-Ih 76

Characteristics:

Orphanet epidemiological data:

60
hurler syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Germany),1-9/1000000 (Denmark),1-9/100000 (Portugal),<1/1000000 (Taiwan, Province of China),1-9/1000000 (Australia); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
alpha-l-iduronidase activity is <1% for all forms of mps1
mps1 types are distinguished clinically by age of onset and progression or by mutation(s)


HPO:

33
hurler syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hurler Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93473Disease definitionHurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.EpidemiologyThe prevalence of the Hurler subtype of MPS1 is estimated at 1/200,000 in Europe.Clinical descriptionPatients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features (including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion. Developmental delay is usually observed between 12 and 24 months of life and is primarily in the realm of speech with progressive cognitive and sensorial deterioration. Hydrocephaly can occur after the age of two. Diffuse corneal compromise leading to corneal opacity becomes detectable from three years of age onwards. Other manifestations include organomegaly, hernias and hirsutism.EtiologyHurler syndrome is caused by mutations in the IDUAgene (4p16.3) leading to a complete deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate.Diagnostic methodsEarly diagnosis is difficult as the first clinical manifestations are not specific. Diagnosis is based on detection of increased urinary excretion of heparan and dermatan sulfate and confirmed by demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available.Differential diagnosisDifferential diagnoses include the milder form of mucopolysaccharidosis type 1, the Hurler-Scheie syndrome (see this term), although this form is associated with only slight cognitive impairment. Differential diagnoses also include mucopolysaccharidosis type 6 and type 2 and mucolipidosis type 2 (see these terms).Antenatal diagnosisAntenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.Genetic counselingTransmission is autosomal recessive. Genetic counseling and testing should be offered to couples with a positive family history.Management and treatmentManagement is multidisciplinary. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for patients with Hurler syndrome under 2.5 years of age (and in selected patients over this age limit) as it can prolong survival, preserve neurocognition, and ameliorate some somatic features. HSCT should be performed early in the disease course, before developmental deterioration begins. Enzyme replacement therapy (ERT) with laronidase is recommended for all Hurler patients and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition. Additional management of Hurler syndrome is largely supportive, and includes surgical interventions (e.g. adenotonsillectomy, hernia repair, ventriculoperitoneal shunt, cardiac valve replacement, carpal tunnel release, spinal decompression); physical, occupational, and speech therapies; respiratory support (e.g., continuous positive pressure ventilation with oxygen supplementation); hearing aids; and medications for pain and gastrointestinal disturbances.PrognosisPatients often succumb to the condition in the first decade from respiratory and cardiac complications but ERT and HSCT can improve life expectancy. The timing of diagnosis, and therefore of treatment initiation, is an important factor for the success of both HSCT and laronidase.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hurler Syndrome, also known as mucopolysaccharidosis type ih, is related to scheie syndrome and hurler-scheie syndrome, and has symptoms including joint stiffness An important gene associated with Hurler Syndrome is IDUA (Iduronidase Alpha-L-), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, tonsil and heart, and related phenotypes are short neck and frontal bossing

OMIM : 58 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH), Scheie (MPS IS; 607016), and Hurler-Scheie (MPS IH/S; 607015) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972). MPS I is more frequent than MPS II (Hunter syndrome; 309900), which has no corneal clouding and pursues a slower course. (607014)

UniProtKB/Swiss-Prot : 76 Mucopolysaccharidosis 1H: A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.

Wikipedia : 77 Hurler syndrome, also known as mucopolysaccharidosis type IH (MPS IH), Hurler''s disease and formerly... more...

Related Diseases for Hurler Syndrome

Graphical network of the top 20 diseases related to Hurler Syndrome:



Diseases related to Hurler Syndrome

Symptoms & Phenotypes for Hurler Syndrome

Human phenotypes related to Hurler Syndrome:

60 33 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 large face 60 33 hallmark (90%) Very frequent (99-80%) HP:0100729
6 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
7 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
8 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
9 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
10 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
11 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
12 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
13 abnormal vertebral morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003468
14 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
15 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
16 mucopolysacchariduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0008155
17 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293
18 hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100790
19 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
20 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
21 cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001638
22 abnormality of the tonsils 60 33 hallmark (90%) Very frequent (99-80%) HP:0100765
23 cerebral palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100021
24 rhinitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012384
25 abnormal heart valve morphology 33 hallmark (90%) HP:0001654
26 abnormality of epiphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005930
27 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
28 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
29 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
30 sleep disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0002360
31 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
32 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
33 hearing impairment 60 33 occasional (7.5%) Frequent (79-30%) HP:0000365
34 recurrent respiratory infections 60 33 very rare (1%) Frequent (79-30%) HP:0002205
35 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
36 thick vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0012471
37 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
38 retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0000488
39 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
40 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
41 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
42 glaucoma 60 33 occasional (7.5%) Frequent (79-30%) HP:0000501
43 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
44 chronic diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002028
45 abnormality of the elbow 60 33 frequent (33%) Frequent (79-30%) HP:0009811
46 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
47 abnormality of the clavicle 60 33 frequent (33%) Frequent (79-30%) HP:0000889
48 abnormal diaphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000940
49 narrow pelvis bone 60 33 frequent (33%) Frequent (79-30%) HP:0003275
50 abnormal pyramidal sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0007256

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Skeletal Skull:
hydrocephalus
j-shaped sella turcica
premature closure of the metopic suture
premature closure of the sagittal suture

Abdomen Spleen:
splenomegaly

Skeletal:
joint stiffness
dysostosis multiplex
joint contractures

Growth Height:
short stature

Skeletal Pelvis:
coxa valga
flared iliac wings

Neurologic Central Nervous System:
neurodegeneration
mental retardation
progressive mental deterioration
developmental delay evident by 12-24 months of age

Head And Neck Ears:
recurrent ear infections
hearing loss (in some patients)

Respiratory Nasopharynx:
enlarged tonsils
enlarged adenoids

Skeletal Hands:
carpal tunnel syndrome
claw-hand deformity
bullet-shaped phalanges

Head And Neck Eyes:
glaucoma (in some patients)
retinal degeneration (in some patients)
cloudy corneas

Skeletal Limbs:
small femoral heads

Cardiovascular Vascular:
narrow coronary arteries
thickened coronary arteries

Respiratory Larynx:
enlarged vocal cords

Chest Ribs Sternum Clavicles And Scapulae:
oar-shaped ribs (narrow at vertebral end, broad at sternal end)
short, thick, irregular clavicles

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen Liver:
hepatomegaly

Abdomen External Features:
umbilical hernia

Head And Neck Face:
full cheeks
coarse face

Cardiovascular Heart:
cardiomyopathy
endocardial fibroelastosis
aortic valve thickening
aortic regurgitation (in some patients)
mitral regurgitation (in some patients)
more
Head And Neck Nose:
broad nasal tip
anteverted nostrils
low nasal bridge

Skin Nails Hair Hair:
hirsutism

Head And Neck Teeth:
small teeth
misaligned teeth

Skeletal Spine:
gibbus
odontoid hypoplasia
dysplastic vertebral bodies

Head And Neck Mouth:
full lips
gum hypertrophy
enlarged tongue
hypertrophy of alveolar ridge

Skin Nails Hair Skin:
dermal melanocytosis

Respiratory:
frequent upper and lower respiratory tract infections

Respiratory Airways:
narrow trachea
thickened mainstem bronchi
chronic obstructive airway disease

Laboratory Abnormalities:
excretion of dermatan sulfate and heparan sulfate in urine

Clinical features from OMIM:

607014

UMLS symptoms related to Hurler Syndrome:


joint stiffness

Drugs & Therapeutics for Hurler Syndrome

Drugs for Hurler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4,Phase 1,Phase 2
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Antibodies Phase 4,Phase 1,Phase 2
4 Pharmaceutical Solutions Phase 3,Not Applicable
5
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
7
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
10
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
11
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
12
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
13
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
16
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
17
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
18
rituximab Approved Phase 2 174722-31-7 10201696
19
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
20
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
21
tannic acid Approved Phase 2 1401-55-4
22
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
23
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
26
Melphalan Approved Phase 2,Phase 1 148-82-3 460612 4053
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
28
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
29 Tocotrienol Investigational Phase 2 6829-55-6
30 Hypoglycemic Agents Phase 1, Phase 2
31 insulin Phase 1, Phase 2,Phase 2
32 Insulin, Globin Zinc Phase 1, Phase 2,Phase 2
33 Antibodies, Monoclonal Phase 1, Phase 2,Phase 2
34 Antineoplastic Agents, Immunological Phase 2,Phase 1
35 Methylprednisolone Acetate Phase 2
36 Prednisolone acetate Phase 2
37 Alkylating Agents Phase 2,Phase 1
38 Antineoplastic Agents, Alkylating Phase 2,Phase 1
39 Immunosuppressive Agents Phase 2,Phase 1
40 Antilymphocyte Serum Phase 2,Phase 1
41 Antirheumatic Agents Phase 2,Phase 1
42 Thymoglobulin Phase 2,Phase 1
43 Cyclosporins Phase 1, Phase 2,Phase 2
44 Antimetabolites Phase 1, Phase 2,Phase 2
45 Dermatologic Agents Phase 1, Phase 2,Phase 2
46 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
47 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
48 Anti-Infective Agents Phase 1, Phase 2,Phase 2
49 Antifungal Agents Phase 1, Phase 2,Phase 2
50 Tocopherols Phase 2

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
2 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
3 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
4 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
5 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
6 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
7 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
8 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2 Laronidase ERT
9 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Completed NCT03053089 Phase 1, Phase 2 AGT-181
10 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
11 Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant Recruiting NCT03488394 Phase 1, Phase 2
12 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Completed NCT03071341 Phase 1, Phase 2 AGT-181
13 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2 Umbilical cord blood transplantation with HSC835
14 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
15 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
16 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
17 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
18 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
19 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
20 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
23 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
24 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Unknown status NCT01173016 Phase 1 Laronidase
25 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Unknown status NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
26 Intrathecal Enzyme Replacement for Hurler Syndrome Completed NCT00638547 Phase 1 IRT Laronidase
27 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
28 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
29 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
30 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
31 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
32 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Terminated NCT01572636 Laronidase
33 Biomarker for Hurler Disease (BioHurler) Recruiting NCT02298712
34 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
35 MRS to Determine Neuroinflammation and Oxidative Stress in MPS I Recruiting NCT03576729
36 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
37 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
38 BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study Available NCT03639844 rimiducid
39 Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2) Recruiting NCT02298647
40 Effects of Growth Hormone in Chronically Ill Children Withdrawn NCT00286689 Not Applicable Growth Hormone
41 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375

Search NIH Clinical Center for Hurler Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Hurler Syndrome

Anatomical Context for Hurler Syndrome

MalaCards organs/tissues related to Hurler Syndrome:

42
Bone, Tonsil, Heart, Bone Marrow, Liver, Testes, Spleen

Publications for Hurler Syndrome

Articles related to Hurler Syndrome:

(show top 50) (show all 223)
# Title Authors Year
1
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings. ( 30755342 )
2019
2
Immune cytopenia post-cord transplant in Hurler syndrome is a forme fruste of graft rejection. ( 30787020 )
2019
3
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. ( 31019279 )
2019
4
ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome. ( 30528089 )
2019
5
Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome. ( 29200150 )
2018
6
Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome). ( 29409846 )
2018
7
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. ( 29517765 )
2018
8
Total hip arthroplasty in Hurler syndrome - 8 years follow up - A case report with review of literature. ( 29657451 )
2018
9
Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome. ( 29751845 )
2018
10
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. ( 29843745 )
2018
11
Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome. ( 30397627 )
2018
12
The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison. ( 28479223 )
2017
13
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation. ( 29296871 )
2017
14
Erratum: 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. ( 29297517 )
2017
15
Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome. ( 28218755 )
2017
16
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. ( 28171706 )
2017
17
Early disease progression of Hurler syndrome. ( 28193245 )
2017
18
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation. ( 28283844 )
2017
19
Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model. ( 28585336 )
2017
20
Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature. ( 28607814 )
2017
21
Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome). ( 28964381 )
2017
22
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome. ( 28983455 )
2017
23
Unfavourable outcome after uneventful anaesthesia and surgery in a child with Hurler syndrome. ( 29242665 )
2017
24
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
25
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation. ( 27392569 )
2016
26
Successful Use of Eltrombopag in a Child With Hurler Syndrome After Haploidentical Hematopoietic Stem Cell Transplantation. ( 26491856 )
2016
27
A Long-term Retrospective Evaluation of Functional and Radiographic Outcomes of Pediatric Hip Surgery in Hurler Syndrome. ( 26090987 )
2016
28
TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome. ( 26551775 )
2016
29
Regression of ventriculomegaly following medical management of a patient with Hurler syndrome. ( 26745646 )
2016
30
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. ( 26825088 )
2016
31
Laronidase desensitization during stem cell transplant in a child with Hurler syndrome. ( 26916445 )
2016
32
A novel explanation of corneal clouding in a bone marrow transplant-treated patient with Hurler syndrome. ( 27235795 )
2016
33
Sleep Apnea in Hurler Syndrome: Looking Beyond the Upper Airway. ( 27397665 )
2016
34
Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements. ( 25709894 )
2015
35
Hurler syndrome: orofacial, dental, and skeletal findings of a case. ( 25134498 )
2015
36
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation. ( 25614311 )
2015
37
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. ( 25624320 )
2015
38
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome. ( 26407983 )
2015
39
Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant. ( 26937401 )
2015
40
Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome. ( 29252605 )
2015
41
Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome: A Case Report. ( 29252733 )
2015
42
High-dose enzyme replacement therapy in murine Hurler syndrome. ( 24100243 )
2014
43
Platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice with Hurler syndrome. ( 24550296 )
2014
44
Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (Hurler syndrome). ( 24573070 )
2014
45
Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase. ( 25088464 )
2014
46
Early treatment is associated with improved cognition in Hurler syndrome. ( 25103575 )
2014
47
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. ( 25116402 )
2014
48
Precocious initiation of spermatogenesis in a 19-month-old boy with Hurler syndrome. ( 25780582 )
2014
49
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience. ( 22718273 )
2013
50
Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. ( 22974573 )
2013

Variations for Hurler Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hurler Syndrome:

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 IDUA p.Gly51Asp VAR_003351 rs794726877
2 IDUA p.Ala75Thr VAR_003352 rs758452450
3 IDUA p.Leu218Pro VAR_003358 rs869025584
4 IDUA p.Asp315Tyr VAR_003360
5 IDUA p.Ala327Pro VAR_003361 rs199801029
6 IDUA p.Asp349Asn VAR_003362 rs368454909
7 IDUA p.Thr366Pro VAR_003365 rs121965024
8 IDUA p.Thr388Arg VAR_003368 rs794727896
9 IDUA p.Gly409Arg VAR_003370 rs11934801
10 IDUA p.Arg489Pro VAR_003373
11 IDUA p.Pro533Arg VAR_003378 rs121965021
12 IDUA p.Met133Ile VAR_020977 rs558683362
13 IDUA p.Glu182Lys VAR_020978 rs754154200
14 IDUA p.Gly208Asp VAR_020979 rs143068187
15 IDUA p.Asp349Tyr VAR_020982
16 IDUA p.Thr103Pro VAR_066217
17 IDUA p.Pro385Arg VAR_066225
18 IDUA p.Val620Phe VAR_072368

ClinVar genetic disease variations for Hurler Syndrome:

6 (show top 50) (show all 333)
# Gene Variation Type Significance SNP ID Assembly Location
1 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
2 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh38 Chromosome 4, 1002747: 1002747
3 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
4 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh38 Chromosome 4, 987858: 987858
5 IDUA NM_000203.3(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
6 IDUA NM_000203.3(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh38 Chromosome 4, 1003418: 1003418
7 IDUA NM_000203.4(IDUA): c.1225G> C (p.Gly409Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11934801 GRCh37 Chromosome 4, 996555: 996555
8 IDUA NM_000203.4(IDUA): c.1225G> C (p.Gly409Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11934801 GRCh38 Chromosome 4, 1002767: 1002767
9 IDUA IDUA, 1-BP DEL, 1702G deletion Pathogenic
10 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh37 Chromosome 4, 981630: 981630
11 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh38 Chromosome 4, 987842: 987842
12 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh37 Chromosome 4, 995905: 995905
13 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh38 Chromosome 4, 1002117: 1002117
14 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh37 Chromosome 4, 996180: 996180
15 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh38 Chromosome 4, 1002392: 1002392
16 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh37 Chromosome 4, 998080: 998080
17 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh38 Chromosome 4, 1004292: 1004292
18 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh37 Chromosome 4, 996890: 996890
19 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh38 Chromosome 4, 1003102: 1003102
20 IDUA NM_000203.5(IDUA): c.613_617dup (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh38 Chromosome 4, 1001702: 1001706
21 IDUA NM_000203.5(IDUA): c.613_617dup (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
22 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
23 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh38 Chromosome 4, 987916: 987916
24 IDUA NM_000203.4(IDUA): c.898G> A (p.Ala300Thr) single nucleotide variant Uncertain significance rs121965030 GRCh37 Chromosome 4, 995875: 995875
25 IDUA NM_000203.4(IDUA): c.898G> A (p.Ala300Thr) single nucleotide variant Uncertain significance rs121965030 GRCh38 Chromosome 4, 1002087: 1002087
26 IDUA NM_000203.4(IDUA): c.1855C> G (p.Arg619Gly) single nucleotide variant Uncertain significance rs121965031 GRCh37 Chromosome 4, 998074: 998074
27 IDUA NM_000203.4(IDUA): c.1855C> G (p.Arg619Gly) single nucleotide variant Uncertain significance rs121965031 GRCh38 Chromosome 4, 1004286: 1004286
28 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
29 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh38 Chromosome 4, 1002333: 1002333
30 IDUA NM_000203.4(IDUA): c.1962A> T (p.Ter654Cys) single nucleotide variant no interpretation for the single variant rs199794428 GRCh37 Chromosome 4, 998181: 998181
31 IDUA NM_000203.4(IDUA): c.1962A> T (p.Ter654Cys) single nucleotide variant no interpretation for the single variant rs199794428 GRCh38 Chromosome 4, 1004393: 1004393
32 IDUA; SLC26A1 NM_000203.4(IDUA): c.199A> T (p.Ser67Cys) single nucleotide variant Uncertain significance rs370442463 GRCh37 Chromosome 4, 981637: 981637
33 IDUA; SLC26A1 NM_000203.4(IDUA): c.199A> T (p.Ser67Cys) single nucleotide variant Uncertain significance rs370442463 GRCh38 Chromosome 4, 987849: 987849
34 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1363C> T (p.Arg455Cys) single nucleotide variant Likely benign rs387907483 GRCh37 Chromosome 4, 983364: 983364
35 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1363C> T (p.Arg455Cys) single nucleotide variant Likely benign rs387907483 GRCh38 Chromosome 4, 989576: 989576
36 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1448T> A (p.Leu483Gln) single nucleotide variant Likely benign rs387907487 GRCh37 Chromosome 4, 983279: 983279
37 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1448T> A (p.Leu483Gln) single nucleotide variant Likely benign rs387907487 GRCh38 Chromosome 4, 989491: 989491
38 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1711G> A (p.Ala571Thr) single nucleotide variant Likely benign rs387907481 GRCh37 Chromosome 4, 983016: 983016
39 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1711G> A (p.Ala571Thr) single nucleotide variant Likely benign rs387907481 GRCh38 Chromosome 4, 989228: 989228
40 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1886C> T (p.Thr629Met) single nucleotide variant Likely benign rs387907484 GRCh37 Chromosome 4, 982841: 982841
41 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.1886C> T (p.Thr629Met) single nucleotide variant Likely benign rs387907484 GRCh38 Chromosome 4, 989053: 989053
42 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.356G> A (p.Arg119Gln) single nucleotide variant Likely benign rs368990025 GRCh37 Chromosome 4, 985136: 985136
43 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.356G> A (p.Arg119Gln) single nucleotide variant Likely benign rs368990025 GRCh38 Chromosome 4, 991348: 991348
44 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.433G> A (p.Gly145Ser) single nucleotide variant Likely benign rs387907486 GRCh37 Chromosome 4, 985059: 985059
45 IDUA; SLC26A1 NM_022042.3(SLC26A1): c.433G> A (p.Gly145Ser) single nucleotide variant Likely benign rs387907486 GRCh38 Chromosome 4, 991271: 991271
46 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh37 Chromosome 4, 996129: 996129
47 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh38 Chromosome 4, 1002341: 1002341
48 IDUA NM_000203.5(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh37 Chromosome 4, 996733: 996733
49 IDUA NM_000203.5(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh38 Chromosome 4, 1002945: 1002945
50 IDUA NM_000203.5(IDUA): c.1650+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123256 GRCh37 Chromosome 4, 997263: 997263

Expression for Hurler Syndrome

Search GEO for disease gene expression data for Hurler Syndrome.

Pathways for Hurler Syndrome

Pathways related to Hurler Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 GLB1 IDUA
2
Show member pathways
11.66 GLB1 IDUA
3 11.05 GLB1 IDUA
4
Show member pathways
9.92 GLB1 IDUA

GO Terms for Hurler Syndrome

Cellular components related to Hurler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 GLB1 IDUA
2 lysosomal lumen GO:0043202 8.62 GLB1 IDUA

Biological processes related to Hurler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 GLB1 IDUA
2 metabolic process GO:0008152 8.96 GLB1 IDUA
3 glycosaminoglycan catabolic process GO:0006027 8.62 GLB1 IDUA

Molecular functions related to Hurler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.96 GLB1 IDUA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.32 IDUA

Sources for Hurler Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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38 KEGG
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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