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 58 54 60 76 56 74
Mucopolysaccharidosis Type Ih/s 58 54 60 76
Mucopolysaccharidosis Ih/s 58 54 13
Mps1h/s 54 60 76
Mucopolysaccharidosis Type 1h/s 54 60
Alpha-L-Iduronidase Deficiency 76 74
Mps1-Hs 58 54
Mpsih/s 54 60
Mucopolysaccharidosis Type Ih/s; Mps1-Hs 58
Mucopolysaccharidosis 1h/s 76
Hurler-Scheie Syndrome ) 41
Mucopolysaccharidosis I 74
Mps-Ih/s 76


Orphanet epidemiological data:

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;


autosomal recessive

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


hurler-scheie syndrome:
Inheritance autosomal recessive inheritance


Summaries for Hurler-Scheie 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: 93476Disease definitionHurler-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.EpidemiologyThe 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 descriptionPatients 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.EtiologyHurler-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 methodsEarly 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 diagnosisDifferential 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 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 is recommended.Management and treatmentManagement 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.PrognosisLife expectancy for Hurler-Scheie syndrome may be reduced, with death occurring before adolescence due to serious cardiovascular and respiratory complications.Visit the Orphanet disease page for more resources.

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

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; 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)

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 scheie syndrome 12.6
2 hurler syndrome 11.6
3 mucopolysaccharidosis-plus syndrome 10.7
4 craniosynostosis 10.3
5 gaucher's disease 10.3

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
2 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
4 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
5 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007957
6 abnormal vertebral morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003468
7 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
8 hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100790
9 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
10 abnormality of the tonsils 60 33 hallmark (90%) Very frequent (99-80%) HP:0100765
11 rhinitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012384
12 abnormal heart valve morphology 33 hallmark (90%) HP:0001654
13 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
14 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
15 spinal canal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0003416
16 abnormal nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0040129
17 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
18 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
19 scoliosis 33 HP:0002650
20 kyphosis 33 HP:0002808
21 recurrent respiratory infections 33 HP:0002205
22 depressed nasal bridge 33 HP:0005280
23 joint stiffness 33 HP:0001387
24 umbilical hernia 33 HP:0001537
25 thick vermilion border 33 HP:0012471
26 dysostosis multiplex 33 HP:0000943
27 micrognathia 33 HP:0000347
28 pulmonary arterial hypertension 33 HP:0002092
29 abnormality of the heart valves 60 Very frequent (99-80%)
30 mitral regurgitation 33 HP:0001653
31 tracheal stenosis 33 HP:0002777
32 obstructive sleep apnea 33 HP:0002870
33 aortic regurgitation 33 HP:0001659
34 hirsutism 33 HP:0001007

Symptoms via clinical synopsis from OMIM:

Skeletal Spine:
progressive lumbar gibbus

recurrent respiratory infections
obstructive sleep apnea

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:

Abdomen Liver:

Abdomen External Features:
umbilical hernia

Head And Neck Face:

Skin Nails Hair Hair:

Head And Neck Nose:
low nasal bridge

Cardiovascular Heart:
mitral valve regurgitation
aortic valve regurgitation
dilated left atrium
dilated left ventricle
aortic valve thickening
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:


UMLS symptoms related to Hurler-Scheie Syndrome:

joint stiffness, thick skin

Drugs & Therapeutics for Hurler-Scheie Syndrome

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Immunoglobulins Phase 4
3 Antibodies Phase 4
4 Pharmaceutical Solutions Phase 3,Not Applicable
Zinc Approved, Investigational Phase 1 7440-66-6 32051
6 Trace Elements Phase 1
7 Micronutrients Phase 1
8 Nutrients Phase 1

Interventional clinical trials:

(show all 17)
# 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 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
9 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
10 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1 laronidase
11 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
12 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
13 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
14 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
15 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
16 MRS to Determine Neuroinflammation and Oxidative Stress in MPS I Recruiting NCT03576729
17 Biomarker for Hurler Disease (BioHurler) Recruiting NCT02298712

Search NIH Clinical Center for Hurler-Scheie Syndrome

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

Genetic Tests for Hurler-Scheie Syndrome

Anatomical Context for Hurler-Scheie Syndrome

MalaCards organs/tissues related to Hurler-Scheie Syndrome:

Tonsil, Bone, Lung, Testes, Bone Marrow, Heart, Eye

Publications for Hurler-Scheie Syndrome

Articles related to Hurler-Scheie Syndrome:

(show all 29)
# Title Authors Year
Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis. ( 29791186 )
Deep Anterior Lamellar Keratoplasty in a Case of Hurler-Scheie Syndrome Undergoing Enzyme Replacement Therapy. ( 30575621 )
Hurler-Scheie syndrome in Niger: a case series. ( 31018863 )
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. ( 29705972 )
Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome. ( 26546621 )
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. ( 24368159 )
Deep anterior lamellar keratoplasty in case of Hurler-Scheie syndrome. ( 24706723 )
Growth hormone treatment in a patient with Hurler-Scheie syndrome. ( 24825081 )
Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters. ( 27326280 )
Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report. ( 22114460 )
Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome. ( 19412486 )
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). ( 15604908 )
Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations. ( 15521993 )
Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome. ( 11131359 )
Transient hyperreninemic hypertension and thalamic infarcts in infant with Hurler-Scheie syndrome. ( 17322739 )
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. ( 10735634 )
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. ( 10466419 )
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. ( 9391892 )
Grouped papules in Hurler-Scheie syndrome. ( 8912609 )
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. ( 8664897 )
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). ( 7550232 )
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. ( 8328452 )
Sinus complications in mucopolysaccharidosis IH/S (Hurler-Scheie syndrome). ( 8444549 )
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. ( 8213840 )
Management of a difficult airway in a patient with Hurler-Scheie syndrome during cardiac surgery. ( 1416140 )
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency). ( 2115154 )
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). ( 3114705 )
Anaesthetic problems in Hurler-Scheie syndrome. Report of two cases. ( 3096067 )
Postmortem findings in the Hurler-Scheie syndrome (mucopolysaccharidosis I-H/S). ( 6814547 )

Variations for Hurler-Scheie Syndrome

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

76 (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

ClinVar genetic disease variations for Hurler-Scheie Syndrome:

6 (show all 24)
# 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.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh37 Chromosome 4, 996890: 996890
8 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh38 Chromosome 4, 1003102: 1003102
9 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh37 Chromosome 4, 998179: 998179
10 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh38 Chromosome 4, 1004391: 1004391
11 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
12 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh38 Chromosome 4, 987916: 987916
13 IDUA NM_000203.4(IDUA): c.1855C> G (p.Arg619Gly) single nucleotide variant Uncertain significance rs121965031 GRCh37 Chromosome 4, 998074: 998074
14 IDUA NM_000203.4(IDUA): c.1855C> G (p.Arg619Gly) single nucleotide variant Uncertain significance rs121965031 GRCh38 Chromosome 4, 1004286: 1004286
15 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh37 Chromosome 4, 996175: 996175
16 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh38 Chromosome 4, 1002387: 1002387
17 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
18 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh38 Chromosome 4, 1002333: 1002333
19 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic/Likely pathogenic rs794726878 GRCh37 Chromosome 4, 980925: 980925
20 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic/Likely pathogenic rs794726878 GRCh38 Chromosome 4, 987137: 987137
21 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs794727896 GRCh37 Chromosome 4, 996247: 996247
22 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs794727896 GRCh38 Chromosome 4, 1002459: 1002459
23 IDUA NM_000203.4(IDUA): c.300-3C> G single nucleotide variant Uncertain significance rs1226056948 GRCh37 Chromosome 4, 994397: 994397
24 IDUA NM_000203.4(IDUA): c.300-3C> G single nucleotide variant Uncertain significance rs1226056948 GRCh38 Chromosome 4, 1000609: 1000609

Expression for Hurler-Scheie Syndrome

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

Pathways for Hurler-Scheie Syndrome

GO Terms for Hurler-Scheie Syndrome

Sources for Hurler-Scheie Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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