MCID: HRL004
MIFTS: 40

Hurler-Scheie Syndrome

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

Aliases & Classifications for Hurler-Scheie Syndrome

MalaCards integrated aliases for Hurler-Scheie Syndrome:

Name: Hurler-Scheie Syndrome 57 53 59 75 55 73
Mucopolysaccharidosis Type Ih/s 57 53 59 75
Mucopolysaccharidosis Ih/s 57 53 13
Mps1h/s 53 59 75
Mucopolysaccharidosis Type 1h/s 53 59
Alpha-L-Iduronidase Deficiency 75 73
Mps1-Hs 57 53
Mpsih/s 53 59
Mucopolysaccharidosis Type Ih/s; Mps1-Hs 57
Mucopolysaccharidosis 1h/s 75
Hurler-Scheie Syndrome ) 40
Mucopolysaccharidosis I 73
Mps-Ih/s 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
hurler-scheie syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hurler-Scheie 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: 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 Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include tonsil, bone and lung, and related phenotypes are abnormal pyramidal signs and coarse facial features

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)

UniProtKB/Swiss-Prot : 75 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 12.4
2 hurler syndrome 11.4
3 type i 10.4
4 craniosynostosis 10.1
5 gaucher's disease 10.1
6 aneurysm 10.1

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



Diseases related to Hurler-Scheie Syndrome

Symptoms & Phenotypes for Hurler-Scheie Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
progressive lumbar gibbus

Respiratory:
recurrent respiratory infections
obstructive sleep apnea

Skeletal:
joint stiffness
dysostosis multiplex

Growth Height:
short stature

Respiratory Airways:
tracheal stenosis

Head And Neck Nose:
low nasal bridge

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)

AbdomenSpleen:
splenomegaly

Abdomen Liver:
hepatomegaly

Abdomen External Features:
umbilical hernia

Head And Neck Face:
micrognathia

Skin Nails Hair Hair:
hirsutism

Skin Nails Hair Skin:
thick skin

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

Human phenotypes related to Hurler-Scheie Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
2 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
3 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
7 abnormal vertebral morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003468
8 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100790
11 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
12 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
13 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
14 abnormality of the tonsils 59 32 hallmark (90%) Very frequent (99-80%) HP:0100765
15 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
16 abnormal nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0040129
17 rhinitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012384
18 scoliosis 32 HP:0002650
19 kyphosis 32 HP:0002808
20 recurrent respiratory infections 32 HP:0002205
21 depressed nasal bridge 32 HP:0005280
22 joint stiffness 32 HP:0001387
23 umbilical hernia 32 HP:0001537
24 thick vermilion border 32 HP:0012471
25 dysostosis multiplex 32 HP:0000943
26 micrognathia 32 HP:0000347
27 pulmonary arterial hypertension 32 HP:0002092
28 abnormality of the heart valves 59 Very frequent (99-80%)
29 mitral regurgitation 32 HP:0001653
30 tracheal stenosis 32 HP:0002777
31 obstructive sleep apnea 32 HP:0002870
32 aortic regurgitation 32 HP:0001659
33 hirsutism 32 HP:0001007
34 abnormal heart valve morphology 32 hallmark (90%) HP:0001654

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4
2 Immunoglobulins Phase 4
3 Pharmaceutical Solutions Phase 3,Not Applicable
4
Zinc Approved, Investigational Phase 1 7440-66-6 23994

Interventional clinical trials:

(show all 17)
# 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 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 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
11 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1 laronidase
12 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
13 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
14 Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease Recruiting NCT02298712
15 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
16 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
17 MRS to Determine Neuroinflammation and Oxidative Stress in MPS I Not yet recruiting NCT03576729

Search NIH Clinical Center for Hurler-Scheie Syndrome

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


Genetic Tests for Hurler-Scheie Syndrome

Anatomical Context for Hurler-Scheie Syndrome

MalaCards organs/tissues related to Hurler-Scheie Syndrome:

41
Tonsil, Bone, Lung, Testes, Bone Marrow, Heart, Eye

Publications for Hurler-Scheie Syndrome

Articles related to Hurler-Scheie Syndrome:

(show all 20)
# Title Authors Year
1
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 12A Years. ( 29705972 )
2018
2
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 )
2018
3
Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome. ( 26546621 )
2015
4
Deep anterior lamellar keratoplasty in case of Hurler-Scheie syndrome. ( 24706723 )
2014
5
Growth hormone treatment in a patient with Hurler-Scheie syndrome. ( 24825081 )
2014
6
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the I+-L-iduronidase gene in Hurler-Scheie syndrome. ( 24368159 )
2013
7
Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters. ( 27326280 )
2012
8
Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report. ( 22114460 )
2011
9
Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome. ( 19412486 )
2006
10
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). ( 15604908 )
2005
11
Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome. ( 11131359 )
2000
12
Transient hyperreninemic hypertension and thalamic infarcts in infant with Hurler-Scheie syndrome. ( 17322739 )
2000
13
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. ( 9391892 )
1997
14
Grouped papules in Hurler-Scheie syndrome. ( 8912609 )
1996
15
Sinus complications in mucopolysaccharidosis IH/S (Hurler-Scheie syndrome). ( 8444549 )
1993
16
Management of a difficult airway in a patient with Hurler-Scheie syndrome during cardiac surgery. ( 1416140 )
1992
17
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency). ( 2115154 )
1990
18
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). ( 3114705 )
1987
19
Anaesthetic problems in Hurler-Scheie syndrome. Report of two cases. ( 3096067 )
1986
20
Postmortem findings in the Hurler-Scheie syndrome (mucopolysaccharidosis I-H/S). ( 6814547 )
1982

Variations for Hurler-Scheie Syndrome

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

75 (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
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
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 27)
# 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 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 Pathogenic rs121965031 GRCh37 Chromosome 4, 998074: 998074
14 IDUA NM_000203.4(IDUA): c.1855C> G (p.Arg619Gly) single nucleotide variant Pathogenic 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 IDUA, IVS2AS, C-G, -3 single nucleotide variant Pathogenic
18 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
19 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh38 Chromosome 4, 1002333: 1002333
20 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs794726878 GRCh37 Chromosome 4, 980925: 980925
21 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs794726878 GRCh38 Chromosome 4, 987137: 987137
22 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Likely pathogenic rs794727896 GRCh37 Chromosome 4, 996247: 996247
23 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Likely pathogenic rs794727896 GRCh38 Chromosome 4, 1002459: 1002459
24 IDUA NM_000203.4(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 GRCh38 Chromosome 4, 1001742: 1001742
25 IDUA NM_000203.4(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 GRCh37 Chromosome 4, 995530: 995530
26 IDUA NM_000203.4(IDUA): c.1598C> T (p.Pro533Leu) single nucleotide variant Likely pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
27 IDUA NM_000203.4(IDUA): c.1598C> T (p.Pro533Leu) single nucleotide variant Likely pathogenic rs121965021 GRCh38 Chromosome 4, 1003418: 1003418

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

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74 UMLS via Orphanet
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