MCID: HRL003
MIFTS: 56

Hurler Syndrome

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

Aliases & Classifications for Hurler Syndrome

MalaCards integrated aliases for Hurler Syndrome:

Name: Hurler Syndrome 57 76 53 59 75
Mucopolysaccharidosis Type Ih 57 53 59 75
Mucopolysaccharidosis Ih 57 53 13
Mps1h 53 59 75
Alpha-L-Iduronidase Deficiency 75 73
Mucopolysaccharidosis Type 1h 53 59
Hurler Disease 53 59
Mps1-H 57 53
Mpsih 53 59
Mucopolysaccharidosis Type Ih; Mps1-H 57
Pfaundler-Hurler Syndrome 73
Mucopolysaccharidosis 1h 75
Mucopolysaccharidosis I 73
Hurler Syndrome ) 40
Hurler's Syndrome 75
Mps Ih 75
Mps-Ih 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
hurler syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hurler Syndrome

NIH Rare Diseases : 53 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 Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and tonsil, and related phenotypes are short neck and frontal bossing

OMIM : 57 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 : 75 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 : 76 Hurler syndrome is also known as mucopolysaccharidosis type IH (MPS IH), Hurler\'s disease, and formerly... more...

Related Diseases for Hurler Syndrome

Diseases related to Hurler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 scheie syndrome 31.8 GLB1 IDUA
2 hurler-scheie syndrome 11.0
3 gm1-gangliosidosis, type i 10.9
4 mucolipidosis iii alpha/beta 10.9
5 hydrocephalus, nonsyndromic, autosomal recessive 1 10.9
6 type i 10.3
7 hematopoietic stem cell transplantation 10.2
8 metachromatic leukodystrophy 10.1
9 leukodystrophy 10.1
10 adrenoleukodystrophy 10.0
11 carpal tunnel syndrome 9.7
12 mononeuropathy of the median nerve, mild 9.7
13 lissencephaly 9.7
14 sleep apnea 9.7
15 syringomyelia 9.7
16 cerebritis 9.7
17 mongolian spot 9.7
18 mucopolysaccharidosis, type vii 9.6 GLB1 IDUA
19 lysosomal storage disease 9.2 GLB1 IDUA

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



Diseases related to Hurler Syndrome

Symptoms & Phenotypes for Hurler Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

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

AbdomenSpleen:
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

Skin Nails Hair Hair:
hirsutism

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

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

Respiratory Nasopharynx:
enlarged tonsils
enlarged adenoids

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

Human phenotypes related to Hurler Syndrome:

59 32 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
4 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
5 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
6 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
7 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
10 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
11 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
12 large face 59 32 hallmark (90%) Very frequent (99-80%) HP:0100729
13 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
14 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
15 hearing impairment 59 32 occasional (7.5%) Frequent (79-30%) HP:0000365
16 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
17 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
18 recurrent respiratory infections 59 32 very rare (1%) Frequent (79-30%) HP:0002205
19 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
20 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
21 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
22 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
23 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
24 abnormal vertebral morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003468
25 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
26 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
27 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
28 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
29 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
30 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
31 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
32 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
33 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
34 hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100790
35 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
36 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
37 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
38 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
39 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
40 glaucoma 59 32 occasional (7.5%) Frequent (79-30%) HP:0000501
41 abnormality of the tonsils 59 32 hallmark (90%) Very frequent (99-80%) HP:0100765
42 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
43 chronic diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002028
44 spinal canal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003416
45 abnormality of the elbow 59 32 frequent (33%) Frequent (79-30%) HP:0009811
46 cerebral palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100021
47 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
48 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
49 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
50 abnormal diaphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000940

UMLS symptoms related to Hurler Syndrome:


joint stiffness

MGI Mouse Phenotypes related to Hurler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.13 GLB1 IDUA SLC26A1
2 renal/urinary system MP:0005367 8.8 GLB1 IDUA SLC26A1

Drugs & Therapeutics for Hurler Syndrome

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 1,Phase 2
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Pharmaceutical Solutions Phase 3,Not Applicable
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
9
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
10
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12
Mesna Approved, Investigational Phase 2 3375-50-6 598
13
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
14
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
15
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
16
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
17
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
18
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
19
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
20
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 23994
23 tannic acid Approved, Nutraceutical Phase 2
24
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
25
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
26 Alkylating Agents Phase 2
27 Antilymphocyte Serum Phase 2
28 Antineoplastic Agents, Alkylating Phase 2
29 Antirheumatic Agents Phase 2,Phase 1
30 Immunosuppressive Agents Phase 2,Phase 1
31 Methylprednisolone acetate Phase 2
32 Methylprednisolone Hemisuccinate Phase 2
33 Prednisolone acetate Phase 2
34 Prednisolone hemisuccinate Phase 2
35 Prednisolone phosphate Phase 2
36 Antifungal Agents Phase 1, Phase 2,Phase 2
37 Anti-Infective Agents Phase 1, Phase 2,Phase 2
38 Antimetabolites Phase 1, Phase 2,Phase 2
39 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
40 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
41 Cyclosporins Phase 1, Phase 2,Phase 2
42 Dermatologic Agents Phase 1, Phase 2,Phase 2
43 Anti-Bacterial Agents Phase 2
44 Antibiotics, Antitubercular Phase 2
45 Antitubercular Agents Phase 2
46 N-monoacetylcystine Phase 2
47 Thioctic Acid Phase 2
48 Tocopherols Phase 2
49 Tocotrienols Phase 2
50 Vitamins Phase 2

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
2 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
3 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
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 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
10 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
11 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
13 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
14 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
15 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)
16 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
17 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
18 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
19 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Active, not recruiting NCT03053089 Phase 1, Phase 2 AGT-181
20 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
21 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Enrolling by invitation NCT03071341 Phase 1, Phase 2 AGT-181
22 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 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
24 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Unknown status NCT01173016 Phase 1 Laronidase
25 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
26 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
27 BMT Abatacept for Non-Malignant Diseases 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 Intrathecal Enzyme Replacement for Hurler Syndrome Active, not recruiting NCT00638547 Phase 1 IRT Laronidase
30 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Active, not recruiting NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
31 Effects of Growth Hormone in Chronically Ill Children Unknown status NCT00286689 Not Applicable Growth Hormone
32 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
33 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
34 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
35 Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease Recruiting NCT02298712
36 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
37 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
38 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Active, not recruiting NCT01572636 Laronidase
39 MRS to Determine Neuroinflammation and Oxidative Stress in MPS I Not yet recruiting NCT03576729

Search NIH Clinical Center for Hurler Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Hurler Syndrome

Anatomical Context for Hurler Syndrome

MalaCards organs/tissues related to Hurler Syndrome:

41
Bone, Heart, Tonsil, Liver, Testes, Spleen, Bone Marrow

Publications for Hurler Syndrome

Articles related to Hurler Syndrome:

(show top 50) (show all 65)
# Title Authors Year
1
Total hip arthroplasty in Hurler syndrome - 8 years follow up - A case report with review of literature. ( 29657451 )
2018
2
Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome. ( 29200150 )
2018
3
Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome. ( 29751845 )
2018
4
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. ( 29843745 )
2018
5
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. ( 29517765 )
2018
6
Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis, Type I (Hurler Syndrome). ( 29409846 )
2018
7
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation. ( 29296871 )
2017
8
Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome). ( 28964381 )
2017
9
Unfavourable outcome after uneventful anaesthesia and surgery in a child with Hurler syndrome. ( 29242665 )
2017
10
Erratum: Aldenhoven M, van den Broek BTA, Wynn RF, et al. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation.<i>Blood Adv.</i>2017;1(24):2236-2242. ( 29297517 )
2017
11
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
12
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. ( 28171706 )
2017
13
Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome. ( 28218755 )
2017
14
Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]. ( 28755358 )
2017
15
Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model. ( 28585336 )
2017
16
The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison. ( 28479223 )
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
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome. ( 28983455 )
2017
20
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation. ( 27392569 )
2016
21
Laronidase desensitization during stem cell transplant in a child with Hurler syndrome. ( 26916445 )
2016
22
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
23
Sleep Apnea in Hurler Syndrome: Looking Beyond the Upper Airway. ( 27397665 )
2016
24
A novel explanation of corneal clouding in a bone marrow transplant-treated patient with Hurler syndrome. ( 27235795 )
2016
25
Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant. ( 26937401 )
2015
26
Precocious initiation of spermatogenesis in a 19-month-old boy with Hurler syndrome. ( 25780582 )
2014
27
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. ( 25116402 )
2014
28
Hip dysplasia in patients with Hurler syndrome (mucopolysaccharidosis type 1H). ( 23812141 )
2013
29
Hurler syndrome (Mucopolysaccharidosis type I). ( 23531928 )
2013
30
Inner ear changes in mucopolysaccharidosis type I/Hurler syndrome. ( 22918113 )
2012
31
Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management. ( 22672476 )
2012
32
Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome). ( 21037085 )
2011
33
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome). ( 21416193 )
2011
34
Clear cells in the atrioventricular valves of infants with severe human mucopolysaccharidosis (Hurler syndrome) are activated valvular interstitial cells. ( 20619689 )
2011
35
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients. ( 20096360 )
2010
36
Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome. ( 19903883 )
2009
37
Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. ( 18830923 )
2008
38
Mobility in Hurler syndrome. ( 18388709 )
2008
39
[Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]. ( 18162380 )
2008
40
Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). ( 18452566 )
2008
41
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. ( 18037941 )
2008
42
Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin. ( 17604658 )
2008
43
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. ( 17718826 )
2007
44
Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome. ( 16326988 )
2006
45
Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. ( 16906003 )
2006
46
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. ( 17089217 )
2006
47
Prevention of neuropathology in the mouse model of Hurler syndrome. ( 15236403 )
2004
48
Lissencephaly and mongolian spots in Hurler syndrome. ( 13679124 )
2003
49
Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). ( 12203137 )
2002
50
Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report. ( 12161377 )
2002

Variations for Hurler Syndrome

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

75 (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
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 71)
# 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_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
6 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh38 Chromosome 4, 1003418: 1003418
7 IDUA IDUA, 1-BP DEL, 1702G deletion Pathogenic
8 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh37 Chromosome 4, 981630: 981630
9 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh38 Chromosome 4, 987842: 987842
10 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh37 Chromosome 4, 995905: 995905
11 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh38 Chromosome 4, 1002117: 1002117
12 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh37 Chromosome 4, 996180: 996180
13 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh38 Chromosome 4, 1002392: 1002392
14 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh37 Chromosome 4, 998080: 998080
15 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh38 Chromosome 4, 1004292: 1004292
16 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh37 Chromosome 4, 996890: 996890
17 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh38 Chromosome 4, 1003102: 1003102
18 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh38 Chromosome 4, 1001702: 1001706
19 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
20 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
21 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh38 Chromosome 4, 987916: 987916
22 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
23 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh38 Chromosome 4, 1002333: 1002333
24 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh37 Chromosome 4, 996129: 996129
25 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh38 Chromosome 4, 1002341: 1002341
26 IDUA NM_000203.4(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh37 Chromosome 4, 996733: 996733
27 IDUA NM_000203.4(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh38 Chromosome 4, 1002945: 1002945
28 IDUA NM_000203.4(IDUA): c.1650+5G> A single nucleotide variant Pathogenic rs398123256 GRCh37 Chromosome 4, 997263: 997263
29 IDUA NM_000203.4(IDUA): c.1650+5G> A single nucleotide variant Pathogenic rs398123256 GRCh38 Chromosome 4, 1003475: 1003475
30 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh37 Chromosome 4, 997871: 997871
31 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh38 Chromosome 4, 1004083: 1004083
32 IDUA NM_000203.4(IDUA): c.299+1G> T single nucleotide variant Pathogenic rs398123259 GRCh37 Chromosome 4, 981738: 981738
33 IDUA NM_000203.4(IDUA): c.299+1G> T single nucleotide variant Pathogenic rs398123259 GRCh38 Chromosome 4, 987950: 987950
34 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh37 Chromosome 4, 980918: 980929
35 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh38 Chromosome 4, 987130: 987141
36 IDUA NM_000203.4(IDUA): c.501C> G (p.Tyr167Ter) single nucleotide variant Pathogenic rs200726100 GRCh37 Chromosome 4, 995263: 995263
37 IDUA NM_000203.4(IDUA): c.501C> G (p.Tyr167Ter) single nucleotide variant Pathogenic rs200726100 GRCh38 Chromosome 4, 1001475: 1001475
38 IDUA NM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys) single nucleotide variant Pathogenic rs587779401 GRCh37 Chromosome 4, 998093: 998093
39 IDUA NM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys) single nucleotide variant Pathogenic rs587779401 GRCh38 Chromosome 4, 1004305: 1004305
40 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh37 Chromosome 4, 996063: 996063
41 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh38 Chromosome 4, 1002275: 1002275
42 IDUA NM_000203.4(IDUA): c.164delC (p.Pro55Argfs) deletion Pathogenic rs727503966 GRCh37 Chromosome 4, 981602: 981602
43 IDUA NM_000203.4(IDUA): c.164delC (p.Pro55Argfs) deletion Pathogenic rs727503966 GRCh38 Chromosome 4, 987814: 987814
44 IDUA NM_000203.4(IDUA): c.1614delG (p.His539Thrfs) deletion Pathogenic rs727503967 GRCh37 Chromosome 4, 997222: 997222
45 IDUA NM_000203.4(IDUA): c.1614delG (p.His539Thrfs) deletion Pathogenic rs727503967 GRCh38 Chromosome 4, 1003434: 1003434
46 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh37 Chromosome 4, 981024: 981024
47 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh38 Chromosome 4, 987236: 987236
48 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs794726878 GRCh37 Chromosome 4, 980925: 980925
49 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs794726878 GRCh38 Chromosome 4, 987137: 987137
50 IDUA NM_000203.4(IDUA): c.1529C> G (p.Pro510Arg) single nucleotide variant Likely pathogenic rs794727017 GRCh37 Chromosome 4, 997137: 997137

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
11.88 GLB1 IDUA SLC26A1
2
Show member pathways
11.77 GLB1 IDUA
3 11.25 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 metabolic process GO:0008152 9.16 GLB1 IDUA
2 carbohydrate metabolic process GO:0005975 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 8.62 GLB1 IDUA

Sources for Hurler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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