MCID: SCH036
MIFTS: 68

Scheie Syndrome

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal 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 Antibodies and Immunoglobulins 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 all 45)
# Related Disease Score Top Affiliating Genes
1 hurler syndrome 32.2 GLB1 IDUA
2 mucopolysaccharidosis type vi 30.9 GAA GALNS
3 hurler-scheie syndrome 12.6
4 malignant migrating partial seizures of infancy 11.1
5 epileptic encephalopathy, early infantile, 6 11.0
6 mucopolysaccharidoses 10.4 IDUA NAGLU
7 type i 10.3
8 cerebral lipidosis 10.1 GLB1 HEXA
9 morquio syndrome 10.1 GALNS GLB1
10 inclusion-cell disease 10.0 CTSA GLB1
11 glycoproteinosis 10.0 CTSA GLB1
12 mucopolysaccharidosis, type ii 10.0 GAA GALNS
13 cervicitis 9.9
14 galactosialidosis 9.9 CTSA GLB1
15 aspartylglucosaminuria 9.9 CTSA GAA
16 pseudopapilledema 9.8
17 trigger thumb 9.8
18 macular dystrophy, corneal 9.8
19 stroke, ischemic 9.8
20 arthritis 9.8
21 craniosynostosis 9.8
22 gaucher's disease 9.8
23 corneal dystrophy 9.8
24 cerebritis 9.8
25 myopathy 9.8
26 macular retinal edema 9.8
27 aneurysm 9.8
28 gangliosidosis gm1 9.7 GALNS GLB1 HEXA
29 mucopolysaccharidosis iv 9.7 CTSA GALNS GLB1
30 carpal tunnel syndrome 9.7
31 mononeuropathy of the median nerve, mild 9.7
32 mannosidosis, alpha b, lysosomal 9.6 CTSA GAA HEXA
33 mannosidosis, beta a, lysosomal 9.6 CTSA GAA HEXA
34 angiokeratoma 9.5 CTSA GLA
35 tay-sachs disease 9.5 CTSA GLB1 HEXA
36 mucopolysaccharidosis-plus syndrome 9.4 GALNS HEXA IDUA NAGLU
37 mucopolysaccharidosis, type vii 9.4 GALNS GLB1 HEXA IDUA
38 fucosidosis 9.2 CTSA GAA HEXA NAGLU
39 mucolipidosis iv 9.2 CTSA GALNS GLB1 HEXA
40 gangliosidosis gm2 9.2 CTSA GAA GLB1 HEXA
41 lipid storage disease 9.1 GLA GLB1 HEXA
42 trehalase deficiency 8.8 GAA GALNS GLB1 HEXA NAGLU
43 sphingolipidosis 8.6 CTSA GLA GLB1 HEXA
44 inherited metabolic disorder 8.6 GAA GALNS GLA HEXA IDUA
45 lysosomal storage disease 6.9 CTSA GAA GALNS GLA GLB1 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 79)
# 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 IDUA UBR5 CTSA GAA GALNS GLA
5 cardiovascular system MP:0005385 9.97 GAA GLA IDUA NAGLU UBR5 CTSA
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 GLA HEXA IDUA NAGLU GALNS

Drugs & Therapeutics for Scheie Syndrome

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 1
2 Immunoglobulins Phase 4,Phase 1
3 Pharmaceutical Solutions Phase 3,Not Applicable
4
Zinc Approved, Investigational Phase 1 7440-66-6 23994
5 Antibodies, Monoclonal Phase 1
6 Hypoglycemic Agents Phase 1
7 insulin Phase 1
8 Insulin, Globin Zinc 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 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 AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 Enrolling by invitation NCT02597114 Phase 1 AGT-181
12 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1 laronidase
13 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
14 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
15 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
16 Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease Recruiting NCT02298712
17 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
18 MRS to Determine Neuroinflammation and Oxidative Stress in MPS I Not yet recruiting NCT03576729
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, Tonsil
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 all 47)
# 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
A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome. ( 29600206 )
2017
4
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
5
Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome. ( 26546621 )
2015
6
Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man. ( 25009127 )
2014
7
Deep anterior lamellar keratoplasty in case of Hurler-Scheie syndrome. ( 24706723 )
2014
8
Growth hormone treatment in a patient with Hurler-Scheie syndrome. ( 24825081 )
2014
9
Mutation c.1190-1delG/N in intron 8 and c.1708G&amp;gt;C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome. ( 25558755 )
2014
10
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the I+-L-iduronidase gene in Hurler-Scheie syndrome. ( 24368159 )
2013
11
Scheie syndrome diagnosed after cerebral infarction. ( 21167740 )
2012
12
Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up. ( 23127271 )
2012
13
Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters. ( 27326280 )
2012
14
Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report. ( 22114460 )
2011
15
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. ( 20532982 )
2010
16
Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression. ( 19894140 )
2009
17
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. ( 18796143 )
2008
18
The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. ( 18389335 )
2008
19
Legg-Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report. ( 17264973 )
2007
20
Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome. ( 19412486 )
2006
21
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. ( 16762159 )
2006
22
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). ( 15604908 )
2005
23
Scheie syndrome (MPS-IS) presented as bilateral trigger thumb. ( 12654077 )
2003
24
Scheie syndrome presenting as myopathy. ( 11414650 )
2001
25
Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome. ( 11131359 )
2000
26
Transient hyperreninemic hypertension and thalamic infarcts in infant with Hurler-Scheie syndrome. ( 17322739 )
2000
27
Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). ( 10220555 )
1999
28
Endoscopic adenoidectomy in a case of Scheie syndrome (MPS I S). ( 9725536 )
1998
29
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. ( 9391892 )
1997
30
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. ( 8664897 )
1996
31
Grouped papules in Hurler-Scheie syndrome. ( 8912609 )
1996
32
Dense peripheral corneal clouding in Scheie syndrome. ( 8033582 )
1994
33
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. ( 8213840 )
1993
34
Mutation in Scheie syndrome (MPS IS): a G--&amp;gt;A transition creates new splice site in intron 5 of one IDUA allele. ( 8318992 )
1993
35
Sinus complications in mucopolysaccharidosis IH/S (Hurler-Scheie syndrome). ( 8444549 )
1993
36
Management of a difficult airway in a patient with Hurler-Scheie syndrome during cardiac surgery. ( 1416140 )
1992
37
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. ( 1836802 )
1991
38
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency). ( 2115154 )
1990
39
Rare multivalvular involvement in a family of Scheie syndrome. ( 3136083 )
1988
40
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). ( 3114705 )
1987
41
Anaesthetic problems in Hurler-Scheie syndrome. Report of two cases. ( 3096067 )
1986
42
Postmortem findings in the Hurler-Scheie syndrome (mucopolysaccharidosis I-H/S). ( 6814547 )
1982
43
Bone cysts in mucopolysaccharidosis I S (Scheie syndrome). ( 6766518 )
1980
44
Ultrastructural aspects of corneal fibrous tissue in the Scheie syndrome. ( 205994 )
1978
45
Mucopolysaccharidosis type V. (Scheie syndrome). A postmortem study by multidisciplinary techniques with emphasis on the brain. ( 817693 )
1976
46
Mucopolysaccharidosis with special reference to Scheie syndrome. ( 15633973 )
1976
47
Scheie syndrome and macular corneal dystrophy. An ultrastructural comparison of conjunctiva and skin. ( 4253322 )
1971

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
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 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
2 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh38 Chromosome 4, 1002747: 1002747
3 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
4 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh38 Chromosome 4, 987858: 987858
5 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
6 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh38 Chromosome 4, 1003418: 1003418
7 IDUA IDUA, IVS5AS, G-A, -7 single nucleotide variant Pathogenic
8 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh37 Chromosome 4, 996896: 996896
9 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh38 Chromosome 4, 1003108: 1003108
10 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh37 Chromosome 4, 998179: 998179
11 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh38 Chromosome 4, 1004391: 1004391
12 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh38 Chromosome 4, 1001702: 1001706
13 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
14 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
15 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh38 Chromosome 4, 987916: 987916
16 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh37 Chromosome 4, 996175: 996175
17 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh38 Chromosome 4, 1002387: 1002387
18 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh37 Chromosome 4, 997871: 997871
19 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh38 Chromosome 4, 1004083: 1004083
20 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh37 Chromosome 4, 980918: 980929
21 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh38 Chromosome 4, 987130: 987141
22 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh37 Chromosome 4, 996063: 996063
23 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh38 Chromosome 4, 1002275: 1002275
24 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh37 Chromosome 4, 981024: 981024
25 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh38 Chromosome 4, 987236: 987236
26 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs794726878 GRCh37 Chromosome 4, 980925: 980925
27 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs794726878 GRCh38 Chromosome 4, 987137: 987137
28 IDUA NM_000203.4(IDUA): c.367G> A (p.Glu123Lys) single nucleotide variant Uncertain significance rs577729544 GRCh37 Chromosome 4, 994467: 994467
29 IDUA NM_000203.4(IDUA): c.367G> A (p.Glu123Lys) single nucleotide variant Uncertain significance rs577729544 GRCh38 Chromosome 4, 1000679: 1000679
30 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Likely pathogenic rs794727896 GRCh37 Chromosome 4, 996247: 996247
31 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Likely pathogenic rs794727896 GRCh38 Chromosome 4, 1002459: 1002459
32 IDUA NM_000203.4(IDUA): c.386-2A> G single nucleotide variant Pathogenic rs777295041 GRCh38 Chromosome 4, 1000880: 1000880
33 IDUA NM_000203.4(IDUA): c.386-2A> G single nucleotide variant Pathogenic rs777295041 GRCh37 Chromosome 4, 994668: 994668
34 IDUA NM_000203.4(IDUA): c.590-7G> A single nucleotide variant Pathogenic rs762411583 GRCh38 Chromosome 4, 1001672: 1001672
35 IDUA NM_000203.4(IDUA): c.590-7G> A single nucleotide variant Pathogenic rs762411583 GRCh37 Chromosome 4, 995460: 995460
36 IDUA NM_000203.4(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 GRCh38 Chromosome 4, 1001742: 1001742
37 IDUA NM_000203.4(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 GRCh37 Chromosome 4, 995530: 995530
38 IDUA NM_000203.4(IDUA): c.965T> A (p.Val322Glu) single nucleotide variant Benign rs76722191 GRCh38 Chromosome 4, 1002154: 1002154
39 IDUA NM_000203.4(IDUA): c.965T> A (p.Val322Glu) single nucleotide variant Benign rs76722191 GRCh37 Chromosome 4, 995942: 995942
40 IDUA NM_000203.4(IDUA): c.1029C> A (p.Tyr343Ter) single nucleotide variant Pathogenic rs764196171 GRCh38 Chromosome 4, 1002325: 1002325
41 IDUA NM_000203.4(IDUA): c.1029C> A (p.Tyr343Ter) single nucleotide variant Pathogenic rs764196171 GRCh37 Chromosome 4, 996113: 996113
42 IDUA NM_000203.4(IDUA): c.223G> A (p.Ala75Thr) single nucleotide variant Pathogenic rs758452450 GRCh37 Chromosome 4, 981661: 981661
43 IDUA NM_000203.4(IDUA): c.223G> A (p.Ala75Thr) single nucleotide variant Pathogenic rs758452450 GRCh38 Chromosome 4, 987873: 987873
44 IDUA NM_000203.4(IDUA): c.236C> T (p.Ala79Val) single nucleotide variant Benign rs747981483 GRCh38 Chromosome 4, 987886: 987886
45 IDUA NM_000203.4(IDUA): c.236C> T (p.Ala79Val) single nucleotide variant Benign rs747981483 GRCh37 Chromosome 4, 981674: 981674
46 IDUA NM_000203.4(IDUA): c.1403-14G> T single nucleotide variant Likely benign rs368368416 GRCh38 Chromosome 4, 1003022: 1003022
47 IDUA NM_000203.4(IDUA): c.1403-14G> T single nucleotide variant Likely benign rs368368416 GRCh37 Chromosome 4, 996810: 996810
48 IDUA NM_000203.4(IDUA): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs138932617 GRCh37 Chromosome 4, 981672: 981672
49 IDUA NM_000203.4(IDUA): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs138932617 GRCh38 Chromosome 4, 987884: 987884
50 IDUA NM_000203.4(IDUA): c.299+7G> A single nucleotide variant Benign/Likely benign rs200911718 GRCh37 Chromosome 4, 981744: 981744

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 9.65 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 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA IDUA
6 keratan sulfate catabolic process GO:0042340 9.33 GALNS GLB1 HEXA
7 glycosphingolipid metabolic process GO:0006687 9.26 CTSA GLA GLB1 HEXA
8 metabolic process GO:0008152 9.17 GAA GALNS GLA GLB1 HEXA IDUA

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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