MPS1S
MCID: SCH036
MIFTS: 69

Scheie Syndrome (MPS1S)

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

Aliases & Classifications for Scheie Syndrome

MalaCards integrated aliases for Scheie Syndrome:

Name: Scheie Syndrome 57 12 76 53 25 59 75 15 38
Mucopolysaccharidosis Type I 24 53 25 59 37 29 55 6
Mucopolysaccharidosis I 38 12 25 44 15 73
Alpha-L-Iduronidase Deficiency 24 53 59 75 73
Mucopolysaccharidosis Type is 57 12 53 59 75
Hurler-Scheie Syndrome 12 53 25 73
Mucopolysaccharidosis Type 1s 12 53 59
Mucopolysaccharidosis Type V 12 76 75
Mucopolysaccharidosis is 57 53 13
Hurler Syndrome 12 53 25
Idua Deficiency 24 53 25
Mps I 24 53 25
Mps1s 53 59 75
Mucopolysaccharidosis Type V, Formerly 57 53
Mps V, Formerly 57 53
Mps5, Formerly 57 53
Mps1-S 57 53
Mpsis 53 59
Scheie Syndrome Formerly Known As Mucopoly-Saccharidosis Type V) 53
Mucopolysaccharidosis Type is; Mps1-S 57
Mps V, Formerly; Mps5, Formerly 57
Iduronidase Deficiency Disease 12
Mucopolysaccharidosis, Type 1 12
Mucopolysaccharidosis, Type I 40
Mucopolysaccharidosis, Mps-I 12
Mucopolysaccharidosis Type 1 59
Pfaundler-Hurler Syndrome 73
Mucopolysaccharidosis 1s 75
Mps I - Hurler Syndrome 12
Mucopolysaccharidosis V 73
Iduronidase, Alpha-L- 13
Lipochondrodystrophy 12
Syndrome, Scheie ) 40
Attenuated Mps I 53
Severe Mps I 53
Mps I H-S 25
Mps I H 25
Mps I S 25
Mps is 75
Mps-is 75
Mps 1 53
Mps V 75
Mpsi 59
Mps1 59

Characteristics:

Orphanet epidemiological data:

59
scheie syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada),<1/1000000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;
mucopolysaccharidosis type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Germany),1-9/100000 (Portugal),1-9/100000 (Netherlands),1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Norway),1-5/10000 (Norway),1-9/1000000 (Denmark),1-9/100000 (Denmark),1-9/1000000 (Ireland),1-9/100000 (United Kingdom),1-9/1000000 (Tunisia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Canada),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (Poland); Age of onset: All ages; Age of death: adolescent,late childhood;

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 after age 5
diagnosis typically between age 10-20 years


HPO:

32
scheie syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Scheie Syndrome

NIH Rare Diseases : 53 Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition.  MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.

MalaCards based summary : Scheie Syndrome, also known as mucopolysaccharidosis type i, is related to hurler syndrome and mucopolysaccharidosis, type vi, and has symptoms including joint stiffness and thick skin. An important gene associated with Scheie Syndrome is IDUA (Iduronidase, Alpha-L-), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and bone marrow, and related phenotypes are macrocephaly and joint dislocation

Disease Ontology : 12 A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.

Genetics Home Reference : 25 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

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), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) 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). (607016)

UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis 1S: A mild 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 MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.

Wikipedia : 76 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

GeneReviews: NBK1162

Related Diseases for Scheie Syndrome

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

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 hurler syndrome 32.2 GLB1 IDUA
2 mucopolysaccharidosis, type vi 29.9 GAA GALNS
3 mucopolysaccharidosis-plus syndrome 29.9 GALNS HEXA IDUA NAGLU
4 hurler-scheie syndrome 12.7
5 malignant migrating partial seizures of infancy 11.2
6 epileptic encephalopathy, early infantile, 6 11.1
7 gm1-gangliosidosis, type i 11.0
8 mucolipidosis iii alpha/beta 11.0
9 hematopoietic stem cell transplantation 10.4
10 melanoma 10.2
11 metachromatic leukodystrophy 10.2
12 leukodystrophy 10.2
13 adrenoleukodystrophy 10.2
14 glioblastoma 10.1
15 mucopolysaccharidoses 10.1 IDUA NAGLU
16 arteries, anomalies of 10.1
17 coronary artery anomaly 10.1
18 morquio syndrome 10.0 GALNS GLB1
19 cerebral lipidosis 10.0 GLB1 HEXA
20 mucopolysaccharidosis, type ii 10.0 GAA GALNS
21 sleep apnea 10.0
22 neuraminidase deficiency 10.0 CTSA GLB1
23 breast cancer 10.0
24 medulloblastoma 10.0
25 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
26 pancreatic ductal adenocarcinoma 10.0
27 thyroid cancer 10.0
28 adenocarcinoma 10.0
29 inclusion-cell disease 10.0 CTSA GLB1
30 gaucher disease, perinatal lethal 10.0 CTSA HEXA
31 galactosialidosis 10.0 CTSA GLB1
32 carpal tunnel syndrome 9.9
33 pseudopapilledema 9.9
34 trigger thumb 9.9
35 macular dystrophy, corneal 9.9
36 stroke, ischemic 9.9
37 mononeuropathy of the median nerve, mild 9.9
38 arthritis 9.9
39 craniosynostosis 9.9
40 joint disorders 9.9
41 gaucher's disease 9.9
42 corneal dystrophy 9.9
43 arthropathy 9.9
44 myopathy 9.9
45 macular retinal edema 9.9
46 hyperphenylalaninemia, bh4-deficient, a 9.9 HEXA NAGLU
47 angiokeratoma 9.9 CTSA GLA
48 mucopolysaccharidosis iv 9.9 CTSA GALNS GLB1
49 glycoproteinosis 9.9 CTSA GAA GLB1
50 mannosidosis, alpha b, lysosomal 9.9 CTSA GAA HEXA

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



Diseases related to Scheie Syndrome

Symptoms & Phenotypes for Scheie Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Face:
full cheeks
mandibular prognathism
broad face

Respiratory:
obstructive sleep apnea

Head And Neck Nose:
broad nose
flat nasal bridge
broad nares

Skeletal Hands:
carpal tunnel syndrome
claw-hand deformity

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

Skeletal:
dysostosis multiplex, mild (in some patients)

Skeletal Limbs:
genu valgum

Skeletal Feet:
pes cavus

Cardiovascular Heart:
aortic regurgitation
aortic stenosis
abnormal mitral valve

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

Head And Neck Eyes:
glaucoma (in some patients)
retinal degeneration (in some patients)
corneal clouding, progressive

Respiratory Airways:
obstructive airway disease

Skeletal Spine:
lumbar-sacral spondylolisthesis


Clinical features from OMIM:

607016

Human phenotypes related to Scheie Syndrome:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
3 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
7 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
8 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
9 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
10 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000280
11 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
12 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
13 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001744
14 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
15 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
16 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
17 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
18 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
19 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001387
20 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
21 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
22 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000407
23 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
24 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
25 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
26 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008155
27 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
28 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
29 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
30 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
31 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
32 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
33 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
34 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
35 thick nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0009928
36 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
37 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
38 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
39 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
40 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000232
41 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
42 abnormal nasal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005105
43 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
44 enlarged thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100625
45 apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002104
46 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
47 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
48 glaucoma 59 32 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000501
49 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
50 abnormality of the tonsils 59 32 frequent (33%) Frequent (79-30%) HP:0100765

UMLS symptoms related to Scheie Syndrome:


joint stiffness, thick skin

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.1 CTSA GALNS GLA HEXA IDUA UBR5

MGI Mouse Phenotypes related to Scheie Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 CTSA GAA GALNS GLA GLB1 IDUA
2 behavior/neurological MP:0005386 10.05 CTSA GAA GLA GLB1 HEXA IDUA
3 growth/size/body region MP:0005378 10.03 CTSA GAA GLA GLB1 HEXA IDUA
4 homeostasis/metabolism MP:0005376 10.01 CTSA GAA GALNS GLA GLB1 HEXA
5 cardiovascular system MP:0005385 9.97 CTSA GAA GLA IDUA NAGLU UBR5
6 mortality/aging MP:0010768 9.87 CTSA GLA GLB1 HEXA IDUA NAGLU
7 craniofacial MP:0005382 9.85 CTSA HEXA IDUA NAGLU UBR5
8 liver/biliary system MP:0005370 9.85 CTSA GLA GLB1 HEXA IDUA NAGLU
9 nervous system MP:0003631 9.73 GLA GLB1 HEXA IDUA NAGLU UBR5
10 renal/urinary system MP:0005367 9.7 CTSA GALNS GLA GLB1 HEXA IDUA
11 skeleton MP:0005390 9.43 GAA GALNS GLB1 HEXA IDUA NAGLU
12 vision/eye MP:0005391 9.02 GALNS GLA HEXA IDUA NAGLU

Drugs & Therapeutics for Scheie Syndrome

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4,Phase 1
2 Antibodies Phase 4,Phase 1
3 Immunologic Factors Phase 4,Phase 1
4 Pharmaceutical Solutions Phase 3,Not Applicable
5
Zinc Approved, Investigational Phase 1 7440-66-6
6 insulin Phase 1
7 Hypoglycemic Agents Phase 1
8 Antibodies, Monoclonal Phase 1
9 Insulin, Globin Zinc Phase 1
10 Trace Elements Phase 1
11 Micronutrients Phase 1

Interventional clinical trials:

(show all 19)
# 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 Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 Completed NCT02597114 Phase 1 AGT-181
11 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1 laronidase
12 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
13 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
14 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
15 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
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
18 Biomarker for Hurler Disease: BioHurler Recruiting NCT02298712
19 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015

Search NIH Clinical Center for Scheie Syndrome

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


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Scheie Syndrome cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: mucopolysaccharidosis i

Genetic Tests for Scheie Syndrome

Genetic tests related to Scheie Syndrome:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I 29

Anatomical Context for Scheie Syndrome

MalaCards organs/tissues related to Scheie Syndrome:

41
Bone, Bone Marrow, Skin, Heart, Brain, Eye, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Scheie Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate

Publications for Scheie Syndrome

Articles related to Scheie Syndrome:

(show top 50) (show all 125)
# 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
Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family. ( 30511553 )
2018
4
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. ( 29654546 )
2018
5
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207 )
2018
6
Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I. ( 28695759 )
2018
7
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I. ( 29159202 )
2018
8
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I. ( 29239447 )
2018
9
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler). ( 29240299 )
2018
10
Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. ( 29273385 )
2018
11
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. ( 29282708 )
2018
12
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases. ( 29336994 )
2018
13
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I. ( 29442294 )
2018
14
Stand-alone craniocervical decompression is feasible in children with mucopolysaccharidosis type I, IVA, and VI. ( 29649608 )
2018
15
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. ( 29797470 )
2018
16
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. ( 29906569 )
2018
17
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. ( 30242902 )
2018
18
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy. ( 30259180 )
2018
19
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights. ( 30419879 )
2018
20
A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome. ( 29600206 )
2017
21
Open issues in Mucopolysaccharidosis type I-Hurler. ( 28619065 )
2017
22
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis. ( 28676128 )
2017
23
Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation. ( 28684085 )
2017
24
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. ( 28752568 )
2017
25
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis. ( 28859139 )
2017
26
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study. ( 28944140 )
2017
27
Clinical features of Mexican patients with Mucopolysaccharidosis type I. ( 28973713 )
2017
28
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling. ( 28982054 )
2017
29
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology. ( 27743312 )
2017
30
Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience. ( 28054207 )
2017
31
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity. ( 28104572 )
2017
32
Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment. ( 28150116 )
2017
33
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease. ( 28595620 )
2017
34
Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease. ( 27105565 )
2016
35
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice. ( 26235607 )
2016
36
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres. ( 26832957 )
2016
37
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. ( 26935461 )
2016
38
Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I. ( 27033167 )
2016
39
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I. ( 27788836 )
2016
40
Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6A years of enzyme replacement therapy: Implications for early diagnosis and therapy. ( 28649551 )
2015
41
Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome. ( 26546621 )
2015
42
Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I. ( 26602600 )
2015
43
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 25467058 )
2015
44
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. ( 25599668 )
2015
45
Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I. ( 25646802 )
2015
46
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures. ( 25732999 )
2015
47
A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I. ( 26052536 )
2015
48
Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man. ( 25009127 )
2014
49
Deep anterior lamellar keratoplasty in case of Hurler-Scheie syndrome. ( 24706723 )
2014
50
Growth hormone treatment in a patient with Hurler-Scheie syndrome. ( 24825081 )
2014

Variations for Scheie Syndrome

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 IDUA p.Arg89Gln VAR_003354 rs121965029
2 IDUA p.Arg89Trp VAR_003355 rs754966840
3 IDUA p.Gln380Arg VAR_003366 rs762903007
4 IDUA p.Arg383His VAR_003367 rs754949360
5 IDUA p.Leu490Pro VAR_003374 rs121965027
6 IDUA p.Arg492Pro VAR_003375 rs121965026
7 IDUA p.Asn350Ile VAR_020983
8 IDUA p.Ser423Arg VAR_020985 rs931627770
9 IDUA p.Tyr76Cys VAR_066215 rs780165694
10 IDUA p.Gly219Glu VAR_066220 rs123023460
11 IDUA p.Glu276Lys VAR_066222
12 IDUA p.Trp306Leu VAR_066223
13 IDUA p.Asn348Lys VAR_066224 rs746766617
14 IDUA p.Leu18Pro VAR_072367 rs794726878

ClinVar genetic disease variations for Scheie Syndrome:

6 (show top 50) (show all 157)
# Gene Variation Type Significance SNP ID Assembly Location
1 IDUA IDUA, IVS5AS, G-A, -7 single nucleotide variant Pathogenic
2 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
3 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh38 Chromosome 4, 1002747: 1002747
4 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
5 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh38 Chromosome 4, 987858: 987858
6 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
7 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh38 Chromosome 4, 1003418: 1003418
8 IDUA NM_000203.4(IDUA): c.1225G> C (p.Gly409Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11934801 GRCh37 Chromosome 4, 996555: 996555
9 IDUA NM_000203.4(IDUA): c.1225G> C (p.Gly409Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11934801 GRCh38 Chromosome 4, 1002767: 1002767
10 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh37 Chromosome 4, 996896: 996896
11 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh38 Chromosome 4, 1003108: 1003108
12 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh37 Chromosome 4, 998179: 998179
13 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh38 Chromosome 4, 1004391: 1004391
14 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh38 Chromosome 4, 1001702: 1001706
15 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
16 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
17 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh38 Chromosome 4, 987916: 987916
18 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh37 Chromosome 4, 996175: 996175
19 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh38 Chromosome 4, 1002387: 1002387
20 IDUA NM_000203.4(IDUA): c.1081G> A (p.Ala361Thr) single nucleotide variant Benign rs6831280 GRCh37 Chromosome 4, 996165: 996165
21 IDUA NM_000203.4(IDUA): c.1081G> A (p.Ala361Thr) single nucleotide variant Benign rs6831280 GRCh38 Chromosome 4, 1002377: 1002377
22 IDUA NM_000203.4(IDUA): c.1164G> C (p.Thr388=) single nucleotide variant Benign rs6836258 GRCh37 Chromosome 4, 996248: 996248
23 IDUA NM_000203.4(IDUA): c.1164G> C (p.Thr388=) single nucleotide variant Benign rs6836258 GRCh38 Chromosome 4, 1002460: 1002460
24 IDUA NM_000203.4(IDUA): c.1230C> G (p.Thr410=) single nucleotide variant Benign rs115790973 GRCh37 Chromosome 4, 996560: 996560
25 IDUA NM_000203.4(IDUA): c.1230C> G (p.Thr410=) single nucleotide variant Benign rs115790973 GRCh38 Chromosome 4, 1002772: 1002772
26 IDUA NM_000203.4(IDUA): c.1360G> A (p.Val454Ile) single nucleotide variant Benign rs73066479 GRCh37 Chromosome 4, 996690: 996690
27 IDUA NM_000203.4(IDUA): c.1360G> A (p.Val454Ile) single nucleotide variant Benign rs73066479 GRCh38 Chromosome 4, 1002902: 1002902
28 IDUA NM_000203.4(IDUA): c.1467C> T (p.Arg489=) single nucleotide variant Benign rs115929690 GRCh37 Chromosome 4, 996888: 996888
29 IDUA NM_000203.4(IDUA): c.1467C> T (p.Arg489=) single nucleotide variant Benign rs115929690 GRCh38 Chromosome 4, 1003100: 1003100
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.246C> G (p.His82Gln) single nucleotide variant Benign/Likely benign, other rs148775298 GRCh37 Chromosome 4, 981684: 981684
33 IDUA NM_000203.4(IDUA): c.246C> G (p.His82Gln) single nucleotide variant Benign/Likely benign, other rs148775298 GRCh38 Chromosome 4, 987896: 987896
34 IDUA NM_000203.4(IDUA): c.24C> A (p.Ala8=) single nucleotide variant Benign rs11248061 GRCh37 Chromosome 4, 980896: 980896
35 IDUA NM_000203.4(IDUA): c.24C> A (p.Ala8=) single nucleotide variant Benign rs11248061 GRCh38 Chromosome 4, 987108: 987108
36 IDUA NM_000203.4(IDUA): c.299+6C> T single nucleotide variant Benign/Likely benign rs147498923 GRCh37 Chromosome 4, 981743: 981743
37 IDUA NM_000203.4(IDUA): c.299+6C> T single nucleotide variant Benign/Likely benign rs147498923 GRCh38 Chromosome 4, 987955: 987955
38 IDUA NM_000203.4(IDUA): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs3755955 GRCh37 Chromosome 4, 994414: 994414
39 IDUA NM_000203.4(IDUA): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs3755955 GRCh38 Chromosome 4, 1000626: 1000626
40 IDUA NM_000203.4(IDUA): c.352C> T (p.Leu118=) single nucleotide variant Benign/Likely benign rs3755954 GRCh37 Chromosome 4, 994452: 994452
41 IDUA NM_000203.4(IDUA): c.352C> T (p.Leu118=) single nucleotide variant Benign/Likely benign rs3755954 GRCh38 Chromosome 4, 1000664: 1000664
42 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic/Likely pathogenic rs398123260 GRCh37 Chromosome 4, 980918: 980929
43 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic/Likely pathogenic rs398123260 GRCh38 Chromosome 4, 987130: 987141
44 IDUA NM_000203.4(IDUA): c.543T> C (p.Asn181=) single nucleotide variant Benign rs6815946 GRCh37 Chromosome 4, 995305: 995305
45 IDUA NM_000203.4(IDUA): c.543T> C (p.Asn181=) single nucleotide variant Benign rs6815946 GRCh38 Chromosome 4, 1001517: 1001517
46 IDUA NM_000203.4(IDUA): c.590-8C> T single nucleotide variant Benign rs6848974 GRCh37 Chromosome 4, 995459: 995459
47 IDUA NM_000203.4(IDUA): c.590-8C> T single nucleotide variant Benign rs6848974 GRCh38 Chromosome 4, 1001671: 1001671
48 IDUA NM_000203.4(IDUA): c.60G> A (p.Ala20=) single nucleotide variant Benign rs10902762 GRCh37 Chromosome 4, 980932: 980932
49 IDUA NM_000203.4(IDUA): c.60G> A (p.Ala20=) single nucleotide variant Benign rs10902762 GRCh38 Chromosome 4, 987144: 987144
50 IDUA NM_000203.4(IDUA): c.891C> T (p.Asn297=) single nucleotide variant Benign/Likely benign rs114806891 GRCh37 Chromosome 4, 995868: 995868

Expression for Scheie Syndrome

Search GEO for disease gene expression data for Scheie Syndrome.

Pathways for Scheie Syndrome

Pathways related to Scheie Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CTSA GAA GALNS GLA GLB1 HEXA
2
Show member pathways
12.3 GAA GLB1 HEXA IDUA NAGLU
3
Show member pathways
12.13 GLB1 HEXA IDUA NAGLU
4
Show member pathways
11.96 CTSA GLA GLB1 HEXA
5
Show member pathways
11.66 GAA GLA GLB1
6
Show member pathways
11.44 GLB1 HEXA
7 11.32 CTSA GAA GALNS GLA GLB1 HEXA
8
Show member pathways
11.05 GLA HEXA
9
Show member pathways
10.9 GLB1 HEXA
10 10.69 GLB1 HEXA
11
Show member pathways
10.65 GALNS GLB1 HEXA IDUA NAGLU

GO Terms for Scheie Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 CTSA GAA GALNS GLA GLB1 HEXA
2 lysosome GO:0005764 9.56 CTSA GAA GALNS GLA GLB1 HEXA
3 azurophil granule lumen GO:0035578 9.46 CTSA GALNS GLA GLB1
4 lysosomal lumen GO:0043202 9.23 CTSA GAA GALNS GLA GLB1 HEXA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 CTSA GAA GALNS GLA GLB1
2 carbohydrate metabolic process GO:0005975 9.55 GAA GLA GLB1 HEXA IDUA
3 glycosaminoglycan catabolic process GO:0006027 9.5 GLB1 IDUA NAGLU
4 lysosome organization GO:0007040 9.43 GAA NAGLU
5 keratan sulfate catabolic process GO:0042340 9.43 GALNS GLB1 HEXA
6 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA IDUA
7 glycosphingolipid metabolic process GO:0006687 9.26 CTSA GLA GLB1 HEXA
8 metabolic process GO:0008152 9.1 GAA GLA GLB1 HEXA IDUA NAGLU

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 CTSA GAA GALNS GLA GLB1 HEXA
2 exo-alpha-sialidase activity GO:0004308 9.32 CTSA GLB1
3 galactoside binding GO:0016936 9.26 GLA GLB1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GAA GLA GLB1 IDUA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 GAA GLA GLB1 HEXA IDUA NAGLU

Sources for Scheie 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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