MPS1H/S
MCID: HRL004
MIFTS: 58

Hurler-Scheie Syndrome (MPS1H/S)

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

Aliases & Classifications for Hurler-Scheie Syndrome

MalaCards integrated aliases for Hurler-Scheie Syndrome:

Name: Hurler-Scheie Syndrome 57 20 58 72 54 6 39 70
Mucopolysaccharidosis Type Ih/s 57 20 58 72 6
Mucopolysaccharidosis Ih/s 57 12 20 13 15
Mps1h/s 12 20 58 72
Mucopolysaccharidosis Type 1h/s 12 20 58
Mpsih/s 12 20 58
Alpha-L-Iduronidase Deficiency 72 70
Mucopolysaccharidosis I 44 70
Mps1-Hs 57 20
Mucopolysaccharidosis Type Ih/s; Mps1-Hs 57
Mucopolysaccharidosis 1h/s 72
Mps-Ih/s 72

Characteristics:

Orphanet epidemiological data:

58
hurler-scheie syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: young Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
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)
onset of symptoms between ages 3-8 years of age
treatment with enzyme replacement therapy


HPO:

31
hurler-scheie syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Hurler-Scheie Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93476 Definition Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Epidemiology The prevalence of MPS I has been estimated at 1/100,000, with Hurler-Scheie syndrome accounting for 23% of cases or a prevalence of approximately 1/435,000. Clinical description Patients with Hurler-Scheie syndrome have normal or almost normal intelligence but exhibit various degrees of physical impairment. Patients present in the first years of life with musculoskeletal alterations to different degrees including short stature, multiple dysostosis, thoracic-lumbar kyphosis, progressive coarsening of the facial features to different degrees, cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion. Hydrocephaly can occur after the age of two. Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight. Other manifestations may include organomegaly, hernias and hirsutism. Etiology Hurler-Scheie syndrome is caused by mutations in the IDUA gene (4p16.3) leading to partial deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate. Diagnostic methods Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment. Diagnosis is based on detection of increased urinary secretion of heparan and dermatan sulfate through 1,9-dimethylmethylene blue (DMB) test and glycosaminoglycan (GAG) electrophoresis, and demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available. Differential diagnosis Differential diagnoses include the milder and more severe forms of mucopolysaccharidosis type 1 (Scheie syndrome and Hurler syndrome respectively), mucopolysaccharidosis typeVI and mucopolysaccharidosis type II (see these terms). Antenatal diagnosis Antenatal 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 counseling Transmission is autosomal recessive. Genetic counseling is recommended. Management and treatment Management should be carried out by a multidisciplinary team and should include physiotherapy to maintain range of movement. Bone marrow or umbilical cord blood transplant has been successful and can preserve neurocognition, improve some aspects of the somatic disease and increase survival. However it is associated with many risks and most of the positive effects occur only if the procedure is performed in the first two years of life. The enzyme substitute (laronidase) obtained EU marketing authorization as an orphan drug in 2003. Given through weekly infusions it leads to improvement of lung function and joint mobility. Enzyme replacement therapy (ERT) should be started at diagnosis and may be beneficial in patients awaiting hematopoietic stem cell transplantation (HSCT). Early treatment slows the progression of the disease. In individual patients with MPS1 of intermediate severity, HSCT may be considered if there is a suitable donor. There are however no data on the efficacy of HSCT in patients with this form of the disease. Prognosis Life expectancy for Hurler-Scheie syndrome may be reduced, with death occurring before adolescence due to serious cardiovascular and respiratory complications.

MalaCards based summary : Hurler-Scheie Syndrome, also known as mucopolysaccharidosis type ih/s, is related to hurler syndrome and scheie syndrome, and has symptoms including joint stiffness and thick skin. An important gene associated with Hurler-Scheie Syndrome is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and spinal cord, and related phenotypes are coarse facial features and splenomegaly

Disease Ontology : 12 A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has material basis in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.

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; 607014), Scheie (MPS IS; 607016), and Hurler-Scheie (MPS IH/S) 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). Roubicek et al. (1985) presented 5 patients with alpha-L-iduronidase deficiency and a phenotype atypical for both Hurler and Scheie syndromes. They felt that the genetic compound explanation was acceptable for some cases, but that others must represent different mutations. (607015) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Mucopolysaccharidosis 1H/S: A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility.

Related Diseases for Hurler-Scheie Syndrome

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 hurler syndrome 30.4 SUMF1 SLC26A1 NAGLU IDUA GALNS FUCA2
2 scheie syndrome 30.3 SUMF1 SLC26A1 SGSH SERPIND1 NAGLU IDUA
3 mucopolysaccharidoses 29.9 SLC26A1 SGSH NAGLU IDUA ARSB
4 umbilical hernia 29.6 IDUA ARSB
5 mucolipidosis 29.0 SUMF1 IDUA GALNS ARSB
6 mucopolysaccharidosis-plus syndrome 28.8 SUMF1 SGSH SERPIND1 NAGLU IDUA GALNS
7 lysosomal storage disease 28.7 SUMF1 SGSH NAGLU IDUA GALNS ARSB
8 mucopolysaccharidosis, type ii 28.4 SUMF1 SGSH NAGLU IDUA GALNS ARSB
9 nutritional deficiency disease 10.1
10 hypertelorism 10.1
11 otitis media 10.1
12 yemenite deaf-blind hypopigmentation syndrome 10.1
13 hydrocephalus 10.1
14 mitral valve stenosis 10.1
15 gaucher's disease 10.1
16 craniosynostosis 10.1
17 heart valve disease 10.1
18 paraplegia 10.1
19 splenomegaly 10.1
20 aneurysm 10.1
21 lysosomal disease 10.1
22 carpal tunnel syndrome 10.1
23 autosomal recessive disease 10.1
24 bone disease 10.1
25 dysostosis 10.1
26 lysosomal storage disease with skeletal involvement 10.1
27 odontoid hypoplasia 10.1
28 aortic disease 10.1
29 macroglossia 10.0
30 glycogen storage disease ii 10.0
31 fabry disease 10.0
32 sleep apnea 10.0
33 scoliosis 10.0
34 urticaria 10.0
35 central nervous system disease 10.0
36 eye disease 10.0
37 nervous system disease 10.0
38 leukodystrophy 10.0 SUMF1 IDUA ARSB
39 mongolian spot 10.0 NAGLU IDUA
40 kluver-bucy syndrome 9.9 SGSH NAGLU
41 sphingolipidosis 9.9 SUMF1 SGSH IDUA
42 krabbe disease 9.9 SGSH IDUA ARSB
43 mannosidosis, alpha b, lysosomal 9.9 SGSH IDUA FUCA2
44 nephrolithiasis, calcium oxalate 9.9 SLC26A1 NAGLU IDUA
45 tay-sachs disease 9.8 SGSH IDUA
46 autoimmune disease 9.8
47 fish-eye disease 9.8
48 tangier disease 9.8
49 macular dystrophy, corneal 9.8
50 endocardial fibroelastosis 9.8

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



Diseases related to Hurler-Scheie Syndrome

Symptoms & Phenotypes for Hurler-Scheie Syndrome

Human phenotypes related to Hurler-Scheie Syndrome:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
6 abnormal vertebral morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003468
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormal heart valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001654
9 hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100790
10 abnormality of the tonsils 58 31 hallmark (90%) Very frequent (99-80%) HP:0100765
11 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
12 rhinitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012384
13 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
14 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
15 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
16 abnormal nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0040129
17 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
18 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
19 scoliosis 31 HP:0002650
20 kyphosis 31 HP:0002808
21 depressed nasal bridge 31 HP:0005280
22 recurrent respiratory infections 31 HP:0002205
23 joint stiffness 31 HP:0001387
24 umbilical hernia 31 HP:0001537
25 thick vermilion border 31 HP:0012471
26 dysostosis multiplex 31 HP:0000943
27 micrognathia 31 HP:0000347
28 mitral regurgitation 31 HP:0001653
29 pulmonary arterial hypertension 31 HP:0002092
30 thickened skin 31 HP:0001072
31 tracheal stenosis 31 HP:0002777
32 aortic regurgitation 31 HP:0001659
33 hirsutism 31 HP:0001007
34 obstructive sleep apnea 31 HP:0002870

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
progressive lumbar gibbus

Abdomen Liver:
hepatomegaly

Skeletal:
joint stiffness
dysostosis multiplex

Growth Height:
short stature

Respiratory Airways:
tracheal stenosis

Skin Nails Hair Skin:
thick skin

Head And Neck Eyes:
corneal clouding

Head And Neck Mouth:
prominent lips

Respiratory Nasopharynx:
nasopharyngeal obstruction
hypertrophic tonsils

Neurologic Central Nervous System:
pachymeningitis cervicalis (cervical cord compression due to thickened dura)

Abdomen Spleen:
splenomegaly

Respiratory:
recurrent respiratory infections
obstructive sleep apnea

Abdomen External Features:
umbilical hernia

Head And Neck Face:
micrognathia

Skin Nails Hair Hair:
hirsutism

Head And Neck Nose:
low nasal bridge

Cardiovascular Heart:
mitral valve regurgitation
aortic valve regurgitation
dilated left atrium
dilated left ventricle
aortic valve thickening
more
Cardiovascular Vascular:
pulmonary hypertension, mild

Skeletal Limbs:
flat femurs with short metaphyses

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

Clinical features from OMIM®:

607015 (Updated 20-May-2021)

UMLS symptoms related to Hurler-Scheie Syndrome:


joint stiffness; thick skin

GenomeRNAi Phenotypes related to Hurler-Scheie Syndrome according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.7 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.7 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.7 GALNS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.7 SLC26A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 ARSB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 SLC26A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 GALNS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.7 SLC26A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.7 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.7 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.7 ARSB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.7 SLC26A1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.7 SLC26A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 ARSB SLC26A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.7 SLC26A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.7 SLC26A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.7 SLC26A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 GALNS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 GALNS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.7 GALNS SLC26A1

MGI Mouse Phenotypes related to Hurler-Scheie Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 ARSB GALNS IDUA NAGLU SERPIND1 SGSH
2 craniofacial MP:0005382 9.65 ARSB IDUA NAGLU SGSH SUMF1
3 liver/biliary system MP:0005370 9.55 IDUA NAGLU SGSH SLC26A1 SUMF1
4 renal/urinary system MP:0005367 9.5 ARSB GALNS IDUA NAGLU SERPIND1 SGSH
5 skeleton MP:0005390 9.17 ARSB GALNS HYAL4 IDUA NAGLU SGSH

Drugs & Therapeutics for Hurler-Scheie Syndrome

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3
Mycophenolic acid Approved Phase 2 24280-93-1 446541
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
6
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
7
tannic acid Approved Phase 2 1401-55-4
8
Mesna Approved, Investigational Phase 2 3375-50-6 598
9
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
12
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
13
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
14
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
15
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
16
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
17
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1 16219006
18
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
19
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
20
Tocopherol Approved, Investigational Phase 2 1406-66-2
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Busulfan Approved, Investigational Phase 2 55-98-1 2478
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
25
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
26
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
27 Tocotrienol Investigational Phase 2 6829-55-6
28 Cyclosporins Phase 1, Phase 2
29 insulin Phase 1, Phase 2
30 Antibodies, Monoclonal Phase 1, Phase 2
31 Insulin, Globin Zinc Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Antifungal Agents Phase 1, Phase 2
34 Calcineurin Inhibitors Phase 1, Phase 2
35 Dermatologic Agents Phase 1, Phase 2
36 Antimetabolites Phase 1, Phase 2
37 Anti-Bacterial Agents Phase 2
38 Antibiotics, Antitubercular Phase 2
39 Antitubercular Agents Phase 2
40 Methylprednisolone Acetate Phase 2
41 Antilymphocyte Serum Phase 1, Phase 2
42 Thymoglobulin Phase 1, Phase 2
43 Anti-Inflammatory Agents Phase 1, Phase 2
44 Pharmaceutical Solutions Phase 1, Phase 2
45 Alpha-lipoic Acid Phase 2
46 Tocotrienols Phase 2
47 Vitamins Phase 2
48 N-monoacetylcystine Phase 2
49 Thioctic Acid Phase 2
50 Tocopherols Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Unknown status NCT00418821 Phase 4
2 A Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00144781 Phase 4
3 A Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients With Mucopolysaccharidosis I (MPS I) Being Treated With Aldurazyme® (Laronidase). Completed NCT00144768 Phase 4 laronidase
4 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I Completed NCT00912925 Phase 3
5 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
6 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
7 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
8 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
9 A Trial of Antigen-specific Immune Tolerance Induction in Mucopolysaccharidosis I (MPS I) Patients Initiating Enzyme Replacement Therapy With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
10 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
11 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
12 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
13 A Phase II Open-Label Clinical Trial of Recombinant Human Alpha-L-iduronidase (Aldurazyme®) to Evaluate the Safety and Pharmacokinetics in Mucopolysaccharidosis I (MPS I) Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
14 Phase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH) Completed NCT00176891 Phase 2 Laronidase ERT
15 An Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181 Completed NCT03071341 Phase 1, Phase 2 AGT-181
16 A Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Completed NCT03053089 Phase 1, Phase 2 AGT-181
17 Phase I/II Study of JR-171 ㏌ Patients With Mucopolysaccharidosis Type I Recruiting NCT04227600 Phase 1, Phase 2 JR-171
18 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
19 A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of Intracisternal RGX-111 in Subjects With Mucopolysaccharidosis Type I Recruiting NCT03580083 Phase 1, Phase 2
20 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
21 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I and II Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
22 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
23 A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I) Active, not recruiting NCT02702115 Phase 1, Phase 2
24 Phase I/II Study Evaluating Safety and Efficacy of Autologous Hematopoietic Stem and Progenitor Cells Genetically Modified With IDUA Lentiviral Vector Encoding for the Human α-L-iduronidase Gene for the Treatment of Patients Affected by Mucopolysaccharidosis Type I, Hurler Variant Active, not recruiting NCT03488394 Phase 1, Phase 2
25 Sleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic Transplantation Not yet recruiting NCT04284254 Phase 1, Phase 2 Autologous Plasmablasts
26 An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I Not yet recruiting NCT04453085 Phase 1, Phase 2 JR-171
27 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
28 A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Unknown status NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
29 Intrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome) Completed NCT00638547 Phase 1 IRT Laronidase
30 Pilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler Syndrome Completed NCT01173016 Phase 1 Laronidase
31 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
32 An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102 Completed NCT02597114 Phase 1 AGT-181
33 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
34 An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00786968 Phase 1 laronidase
35 A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00215527 Phase 1 laronidase
36 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
37 Magnetic Resonance Spectroscopy (MRS) to Determine Neuroinflammation and Oxidative Stress in MPS I Completed NCT03576729
38 A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Completed NCT00852358 laronidase
39 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
40 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
41 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
42 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
43 Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products at St. Jude Children's Research Hospital Recruiting NCT00695279
44 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
45 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298712
46 Long-Term Follow-up of Subjects Who Were Treated With SB-318, SB-913, or SB-FIX, for Targeted Genome Editing Into the Albumin Gene in the Liver Enrolling by invitation NCT04628871
47 Expanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR αβ+T Cells In Pediatric Patients Affected by Hematological and Other Disorders No longer available NCT03639844 rimiducid
48 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
49 MT2011-21C Laronidase (Aldurazyme TM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH). Terminated NCT01572636 Laronidase
50 An Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Terminated NCT02232477 Intrathecal recombinant human alpha iduronidase

Search NIH Clinical Center for Hurler-Scheie Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Laronidase

Cochrane evidence based reviews: mucopolysaccharidosis i

Genetic Tests for Hurler-Scheie Syndrome

Anatomical Context for Hurler-Scheie Syndrome

MalaCards organs/tissues related to Hurler-Scheie Syndrome:

40
Eye, Bone Marrow, Spinal Cord, Heart, Liver, T Cells, Bone

Publications for Hurler-Scheie Syndrome

Articles related to Hurler-Scheie Syndrome:

(show top 50) (show all 164)
# Title Authors PMID Year
1
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 54 61 6 57
10466419 1999
2
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. 61 57 6
9391892 1997
3
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. 6 57
19748810 2009
4
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 6 57
11735025 2001
5
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 57 6
8664897 1996
6
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 6 57
7550242 1995
7
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation. 6 54 61
14559116 2003
8
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 54 6 61
7550232 1995
9
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. 6 61
29282708 2018
10
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. 6 61
29843745 2018
11
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years. 6 61
29705972 2018
12
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. 6 61
27146977 2016
13
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 6 61
24368159 2014
14
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). 61 6
17606547 2007
15
Mucopolysaccharidosis Type I 6 61
20301341 2002
16
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. 6 61
12189649 2002
17
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. 6 61
10735634 2000
18
Grouped papules in Hurler-Scheie syndrome. 61 57
8912609 1996
19
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 6 61
8680403 1995
20
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). 61 57
3114705 1987
21
Postmortem findings in the Hurler-Scheie syndrome (mucopolysaccharidosis I-H/S). 61 57
6814547 1982
22
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. 6
31194252 2019
23
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses. 6
30903511 2019
24
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. 6
30809705 2019
25
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
26
Newborn screening in mucopolysaccharidoses. 6
30442156 2018
27
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. 6
30083803 2018
28
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. 6
29906569 2018
29
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial. 6
29976218 2018
30
Worldwide distribution of common IDUA pathogenic variants. 6
29393969 2018
31
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. 6
29801497 2018
32
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. 6
28728811 2017
33
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. 6
28752568 2017
34
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis. 6
28676128 2017
35
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I. 6
27520059 2016
36
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series. 6
27196898 2016
37
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. 6
27511503 2016
38
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. 6
25256405 2015
39
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
40
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 6
24798265 2015
41
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 6
24875751 2014
42
[Hurler syndrome: early diagnosis and treatment]. 6
24698225 2014
43
Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I. 6
24480078 2014
44
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. 6
27896125 2014
45
The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood. 6
24314423 2013
46
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase. 6
24036510 2013
47
Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module. 6
23959878 2013
48
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 6
23786846 2013
49
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. 6
23837464 2013
50
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 6
22976768 2013

Variations for Hurler-Scheie Syndrome

ClinVar genetic disease variations for Hurler-Scheie Syndrome:

6 (show top 50) (show all 303)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDUA , SLC26A1 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) SNV Benign, other 195038 rs58037052 GRCh37: 4:981673-981673
GRCh38: 4:987885-987885
2 IDUA , SLC26A1 NM_000203.5(IDUA):c.246C>G (p.His82Gln) SNV Uncertain significance, other 92637 rs148775298 GRCh37: 4:981684-981684
GRCh38: 4:987896-987896
3 IDUA NM_000203.5(IDUA):c.965T>A (p.Val322Glu) SNV Benign, other 222992 rs76722191 GRCh37: 4:995942-995942
GRCh38: 4:1002154-1002154
4 IDUA NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) SNV other 426817 rs183347428 GRCh37: 4:995544-995544
GRCh38: 4:1001756-1001756
5 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
6 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
7 IDUA NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) SNV Pathogenic 11917 rs121965025 GRCh37: 4:998080-998080
GRCh38: 4:1004292-1004292
8 IDUA NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) SNV Pathogenic 280976 rs121965031 GRCh37: 4:998074-998074
GRCh38: 4:1004286-1004286
9 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
10 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
11 IDUA NM_000203.5(IDUA):c.876del (p.Asp292fs) Deletion Pathogenic 456720 rs1553917209 GRCh37: 4:995853-995853
GRCh38: 4:1002065-1002065
12 IDUA NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) SNV Pathogenic 11925 rs121965032 GRCh37: 4:996175-996175
GRCh38: 4:1002387-1002387
13 IDUA NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) Deletion Pathogenic 92636 rs398123258 GRCh37: 4:997871-997871
GRCh38: 4:1004083-1004083
14 IDUA , SLC26A1 NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) SNV Pathogenic 222993 rs758452450 GRCh37: 4:981661-981661
GRCh38: 4:987873-987873
15 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
16 IDUA NM_000203.5(IDUA):c.386-2A>G SNV Pathogenic 222994 rs777295041 GRCh37: 4:994668-994668
GRCh38: 4:1000880-1000880
17 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) Duplication Pathogenic 11921 rs786200915 GRCh37: 4:995488-995489
GRCh38: 4:1001700-1001701
18 IDUA NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) SNV Pathogenic 265418 rs148789453 GRCh37: 4:995590-995590
GRCh38: 4:1001802-1001802
19 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
20 IDUA NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) SNV Pathogenic 855322 GRCh37: 4:995913-995913
GRCh38: 4:1002125-1002125
21 IDUA , SLC26A1 NM_000203.5(IDUA):c.164dup (p.Leu56fs) Duplication Pathogenic 855487 GRCh37: 4:981596-981597
GRCh38: 4:987808-987809
22 IDUA NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) SNV Pathogenic 11919 rs121965027 GRCh37: 4:996890-996890
GRCh38: 4:1003102-1003102
23 IDUA NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) SNV Pathogenic 496834 rs794727896 GRCh37: 4:996247-996247
GRCh38: 4:1002459-1002459
24 IDUA NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) SNV Pathogenic 11927 rs121965033 GRCh37: 4:996121-996121
GRCh38: 4:1002333-1002333
25 IDUA NM_000203.5(IDUA):c.1766del (p.Gly589fs) Deletion Pathogenic 937409 GRCh37: 4:997837-997837
GRCh38: 4:1004049-1004049
26 IDUA , SLC26A1 NM_000203.5(IDUA):c.141G>A (p.Trp47Ter) SNV Pathogenic 938186 GRCh37: 4:981013-981013
GRCh38: 4:987225-987225
27 IDUA NM_000203.5(IDUA):c.1602del (p.Leu535fs) Deletion Pathogenic 552506 rs1553917566 GRCh37: 4:997210-997210
GRCh38: 4:1003422-1003422
28 IDUA NM_000203.5(IDUA):c.1728-2A>G SNV Pathogenic 557744 rs1553917699 GRCh37: 4:997798-997798
GRCh38: 4:1004010-1004010
29 IDUA NM_000203.5(IDUA):c.1614del (p.His539fs) Deletion Pathogenic 167191 rs727503967 GRCh37: 4:997222-997222
GRCh38: 4:1003434-1003434
30 IDUA NM_000203.5(IDUA):c.1190-10_*10del Deletion Pathogenic 973582 GRCh37: 4:996510-998191
GRCh38: 4:1002722-1004403
31 IDUA NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) SNV Pathogenic 987878 GRCh37: 4:995872-995872
GRCh38: 4:1002084-1002084
32 IDUA NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) SNV Pathogenic 11919 rs121965027 GRCh37: 4:996890-996890
GRCh38: 4:1003102-1003102
33 IDUA NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) SNV Pathogenic 11920 rs387906504 GRCh37: 4:998179-998179
GRCh38: 4:1004391-1004391
34 IDUA , SLC26A1 NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV Pathogenic 11922 rs121965029 GRCh37: 4:981704-981704
GRCh38: 4:987916-987916
35 IDUA NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) SNV Pathogenic 11925 rs121965032 GRCh37: 4:996175-996175
GRCh38: 4:1002387-1002387
36 IDUA NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) SNV Pathogenic 11927 rs121965033 GRCh37: 4:996121-996121
GRCh38: 4:1002333-1002333
37 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
38 IDUA NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) SNV Pathogenic 222997 rs764196171 GRCh37: 4:996113-996113
GRCh38: 4:1002325-1002325
39 IDUA NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) SNV Pathogenic 222995 rs869025584 GRCh37: 4:995530-995530
GRCh38: 4:1001742-1001742
40 IDUA , SLC26A1 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) SNV Pathogenic 193061 rs794726877 GRCh37: 4:981024-981024
GRCh38: 4:987236-987236
41 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
42 IDUA , SLC26A1 NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV Pathogenic 11922 rs121965029 GRCh37: 4:981704-981704
GRCh38: 4:987916-987916
43 IDUA , SLC26A1 NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) Deletion Pathogenic 92643 rs398123260 GRCh37: 4:980907-980918
GRCh38: 4:987119-987130
44 IDUA NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) SNV Pathogenic 11920 rs387906504 GRCh37: 4:998179-998179
GRCh38: 4:1004391-1004391
45 IDUA NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) SNV Pathogenic 567566 rs781136336 GRCh37: 4:997185-997185
GRCh38: 4:1003397-1003397
46 IDUA , SLC26A1 NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) SNV Pathogenic 580286 rs754966840 GRCh37: 4:981703-981703
GRCh38: 4:987915-987915
47 IDUA NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) SNV Pathogenic 552095 rs1340421020 GRCh37: 4:996540-996540
GRCh38: 4:1002752-1002752
48 IDUA , SLC26A1 NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) Duplication Pathogenic 638820 rs1577508778 GRCh37: 4:981607-981608
GRCh38: 4:987819-987820
49 IDUA , SLC26A1 NM_000203.5(IDUA):c.2T>C (p.Met1Thr) SNV Pathogenic 639529 rs753767675 GRCh37: 4:980874-980874
GRCh38: 4:987086-987086
50 IDUA NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) SNV Pathogenic 651168 rs1356329915 GRCh37: 4:996877-996877
GRCh38: 4:1003089-1003089

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

72 (show all 25)
# Symbol AA change Variation ID SNP ID
1 IDUA p.His82Pro VAR_003353 rs794727239
2 IDUA p.Gln380Arg VAR_003366 rs762903007
3 IDUA p.Leu490Pro VAR_003374 rs121965027
4 IDUA p.Pro496Leu VAR_003376 rs772416503
5 IDUA p.Met504Thr VAR_003377
6 IDUA p.Pro533Arg VAR_003378 rs121965021
7 IDUA p.Trp626Arg VAR_003379 rs128147554
8 IDUA p.Leu346Arg VAR_017436 rs121965033
9 IDUA p.Arg619Gly VAR_017437 rs121965031
10 IDUA p.Ala79Val VAR_020975 rs747981483
11 IDUA p.Leu238Gln VAR_020980 rs148789453
12 IDUA p.Ser260Phe VAR_020981
13 IDUA p.Arg363Cys VAR_020984 rs750496798
14 IDUA p.Ser423Arg VAR_020985 rs931627770
15 IDUA p.Phe602Ile VAR_020986
16 IDUA p.Arg628Pro VAR_020987 rs200448421
17 IDUA p.Gly84Arg VAR_066216
18 IDUA p.Glu178Lys VAR_066218 rs992336192
19 IDUA p.Phe188Leu VAR_066219
20 IDUA p.Gly265Arg VAR_066221 rs369090960
21 IDUA p.Glu276Lys VAR_066222
22 IDUA p.Leu396Pro VAR_066226
23 IDUA p.Ala436Pro VAR_066227
24 IDUA p.Pro496Arg VAR_066229 rs772416503
25 IDUA p.Leu535Phe VAR_066230

Expression for Hurler-Scheie Syndrome

Search GEO for disease gene expression data for Hurler-Scheie Syndrome.

Pathways for Hurler-Scheie Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 SUMF1 SLC26A1 SGSH NAGLU IDUA HYAL4
2
Show member pathways
12.3 SLC26A1 SGSH NAGLU IDUA ARSB
3
Show member pathways
12.07 SGSH NAGLU IDUA ARSB
4 11.33 SUMF1 SGSH NAGLU IDUA HYAL4 GALNS
5
Show member pathways
10.73 SGSH NAGLU IDUA HYAL4 GALNS ARSB

GO Terms for Hurler-Scheie Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.7 SGSH SERPIND1 NAGLU IDUA GALNS FUCA2
2 endoplasmic reticulum lumen GO:0005788 9.56 SUMF1 SERPIND1 FUCA2 ARSB
3 azurophil granule lumen GO:0035578 9.5 GALNS FUCA2 ARSB
4 lysosome GO:0005764 9.43 SGSH NAGLU IDUA GALNS FUCA2 ARSB
5 lysosomal lumen GO:0043202 9.02 SGSH NAGLU IDUA GALNS ARSB

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.54 SUMF1 SERPIND1 FUCA2
2 metabolic process GO:0008152 9.46 NAGLU IDUA HYAL4 FUCA2
3 carbohydrate metabolic process GO:0005975 9.43 IDUA HYAL4 FUCA2
4 lysosome organization GO:0007040 9.32 NAGLU ARSB
5 chondroitin sulfate catabolic process GO:0030207 9.13 IDUA HYAL4 ARSB
6 glycosaminoglycan catabolic process GO:0006027 8.92 SGSH NAGLU IDUA HYAL4

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 SGSH NAGLU IDUA HYAL4 GALNS FUCA2
2 catalytic activity GO:0003824 9.67 SGSH HYAL4 GALNS ARSB
3 arylsulfatase activity GO:0004065 9.32 GALNS ARSB
4 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 GALNS ARSB
5 sulfuric ester hydrolase activity GO:0008484 9.13 SGSH GALNS ARSB
6 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 NAGLU IDUA HYAL4 FUCA2

Sources for Hurler-Scheie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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