MPS1S
MCID: SCH036
MIFTS: 73

Scheie Syndrome (MPS1S)

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

Aliases & Classifications for Scheie Syndrome

MalaCards integrated aliases for Scheie Syndrome:

Name: Scheie Syndrome 57 12 73 20 43 58 72 15 37
Mucopolysaccharidosis Type is 57 12 20 58 72 6
Mucopolysaccharidosis Type I 25 20 43 58 36 54
Alpha-L-Iduronidase Deficiency 25 20 58 72 70
Mucopolysaccharidosis I 12 43 15 70
Hurler-Scheie Syndrome 12 20 43 70
Mucopolysaccharidosis Type 1s 12 20 58
Mucopolysaccharidosis Type V 12 73 72
Mucopolysaccharidosis Type 1 58 29 6
Mucopolysaccharidosis is 57 20 13
Hurler Syndrome 12 20 43
Idua Deficiency 25 20 43
Mps I 25 20 43
Mps1s 20 58 72
Mucopolysaccharidosis Type V, Formerly 57 20
Mucopolysaccharidosis, Type I 39 32
Mps V, Formerly 57 20
Mps5, Formerly 57 20
Mps1-S 57 20
Mpsis 20 58
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) 20
Mucopolysaccharidosis Type is; Mps1-S 57
Mps V, Formerly; Mps5, Formerly 57
Iduronidase Deficiency Disease 12
Mucopolysaccharidosis, Type 1 12
Mucopolysaccharidosis, Mps-I 12
Pfaundler-Hurler Syndrome 70
Mucopolysaccharidosis 1s 72
Mps I - Hurler Syndrome 12
Mucopolysaccharidosis V 70
Lipochondrodystrophy 12
Attenuated Mps I 20
Syndrome, Scheie 39
Severe Mps I 20
Mps I H-S 43
Mps I H 43
Mps I S 43
Mps is 72
Mps-is 72
Mps 1 20
Mps V 72
Mpsi 58
Mps1 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
alpha-l-iduronidase activity is <1% for all forms of mps1
mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
onset of symptoms after age 5
diagnosis typically between age 10-20 years


HPO:

31
scheie syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Scheie Syndrome

MedlinePlus Genetics : 43 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.Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally begin to show other signs and symptoms of the disorder within the first year of life, while those with the attenuated form have milder features that develop later in childhood.Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).People with MPS I often develop clouding of the clear covering of the eye (cornea), which can cause significant vision loss. Affected individuals may also have hearing loss and recurrent ear infections.Some individuals with MPS I have short stature and joint deformities (contractures) that affect mobility. Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord.While both forms of MPS I can affect many different organs and tissues, people with severe MPS I experience a decline in intellectual function and a more rapid disease progression. Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress). Children with this form of the disorder usually have a shortened lifespan, sometimes living only into late childhood. Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan. Some people with the attenuated type have learning disabilities, while others have no intellectual impairments. Heart disease and airway obstruction are major causes of death in people with both types of MPS I.

MalaCards based summary : Scheie Syndrome, also known as mucopolysaccharidosis type is, is related to hurler-scheie syndrome and gm1-gangliosidosis, type i, and has symptoms including joint stiffness and thick skin. An important gene associated with Scheie Syndrome is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Triamcinolone and Dydrogesterone have been mentioned in the context of this disorder. Affiliated tissues include Bone, eye and bone marrow, and related phenotypes are scoliosis and coarse facial features

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

GARD : 20 Mucopolysaccharidosis type 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. Hurler syndrome is characterized by coarse faces, hydrocephalus, dysostosis multiplex, cardiac valve disease, airway obstruction, and mental retardation. Scheie syndrome is a milder form.

UniProtKB/Swiss-Prot : 72 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 : 73 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 265)
# Related Disease Score Top Affiliating Genes
1 hurler-scheie syndrome 32.6 SUMF1 SLC26A1 SGSH NAGLU IDUA GALNS
2 gm1-gangliosidosis, type i 31.7 NPC2 GLB1 GALC
3 mucolipidosis iii alpha/beta 31.4 NAGLU GUSB FUCA2 FUCA1 ARSB ARSA
4 hurler syndrome 31.0 SUMF1 SLC26A1 NAGLU IDUA IDS GUSB
5 mucopolysaccharidoses 30.5 SLC26A1 SGSH NAGLU IDUA HGSNAT GUSB
6 leukodystrophy 30.4 SUMF1 IDUA GALC ARSB ARSA
7 lysosomal disease 30.1 GBA GALC
8 gingival hypertrophy 30.1 IDUA GLB1 ARSA
9 mucolipidosis ii alpha/beta 30.0 NAGLU IDUA GUSB GALNS FUCA1
10 fabry disease 29.9 GUSB GLA GBA FUCA1 ARSA
11 inherited metabolic disorder 29.8 NPC2 IDUA GLA GBA CLN3
12 metachromatic leukodystrophy 29.8 SUMF1 SGSH NPC2 IDUA IDS GLA
13 gm2 gangliosidosis 29.7 NPC2 GLB1 GLA GBA CLN3 ARSA
14 gaucher's disease 29.5 NPC2 IDUA GUSB GLA GBA GALC
15 krabbe disease 29.4 SGSH NPC2 IDUA IDS GLB1 GLA
16 mucolipidosis 29.4 SUMF1 NPC2 IDUA GLB1 GALNS CLN3
17 mucopolysaccharidosis, type iiia 28.9 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
18 mucopolysaccharidosis-plus syndrome 28.8 SUMF1 SGSH NPC2 NAGLU IDUA IDS
19 mucopolysaccharidosis, type vi 28.6 SUMF1 NAGLU IDUA IDS HGSNAT GUSB
20 mucopolysaccharidosis, type ii 28.4 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
21 mucopolysaccharidosis iii 28.1 SUMF1 SGSH NPC2 NAGLU IDUA IDS
22 lysosomal storage disease 27.8 SUMF1 SGSH NPC2 NAGLU IDUA IDS
23 malignant migrating partial seizures of infancy 11.1
24 dravet syndrome 11.0
25 polyposis syndrome, hereditary mixed, 1 10.3
26 mongolian spot 10.3 NAGLU IDUA GLB1
27 gm1-gangliosidosis, type ii 10.3 IDS GLB1
28 kluver-bucy syndrome 10.3 SGSH NAGLU HGSNAT
29 galactosialidosis 10.3 IDUA GLB1 GALNS
30 nephrolithiasis, calcium oxalate 10.3 SLC26A1 NAGLU IDUA
31 morquio syndrome 10.3 GUSB GLB1 GALNS
32 glioblastoma 10.3
33 immune hydrops fetalis 10.3 GUSB GBA
34 charcot-marie-tooth disease, axonal, type 2v 10.3 NAGLU GBA
35 graft-versus-host disease 10.2
36 dysostosis 10.2
37 acute graft versus host disease 10.2
38 progressive myoclonus epilepsy 4 10.2 NAGLU GBA
39 carpal tunnel syndrome 10.2
40 lysosomal storage disease with skeletal involvement 10.2
41 laryngotracheitis 10.2 GLB1 FUCA2 FUCA1
42 combined saposin deficiency 10.2 GALC ARSA
43 ceroid lipofuscinosis, neuronal, 7 10.2 SGSH CLN3
44 skin hemangioma 10.2 GLA FUCA2 FUCA1
45 angiokeratoma 10.2 GLA FUCA2 FUCA1
46 alacrima, achalasia, and mental retardation syndrome 10.2
47 odontochondrodysplasia 10.2 SLC26A1 IDUA GUSB GALNS
48 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.2 IDUA CLN3
49 c syndrome 10.1 NPC2 HGSNAT GBA
50 adrenoleukodystrophy 10.1

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



Diseases related to Scheie Syndrome

Symptoms & Phenotypes for Scheie Syndrome

Human phenotypes related to Scheie Syndrome:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000280
3 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001744
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
5 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
6 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
7 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001387
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 mucopolysacchariduria 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008155
10 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
11 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
12 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
13 glaucoma 58 31 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000501
14 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
15 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
16 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
17 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
18 cerebral palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100021
19 aortic regurgitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001659
20 abnormal nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0040129
21 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
22 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
23 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
24 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
25 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
26 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
27 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
28 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
29 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
30 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
31 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000407
32 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
33 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
34 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
35 thick nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0009928
36 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000232
37 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
38 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
39 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
40 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
41 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
42 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
43 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
44 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
45 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
46 abnormality of the tonsils 58 31 frequent (33%) Frequent (79-30%) HP:0100765
47 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
48 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
49 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
50 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Skeletal Limbs:
genu valgum

Cardiovascular Heart:
aortic regurgitation
aortic stenosis
abnormal mitral valve

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)

Head And Neck Face:
full cheeks
broad face
mandibular prognathism

Skeletal Feet:
pes cavus

Respiratory:
obstructive sleep apnea

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 (Updated 05-Apr-2021)

UMLS symptoms related to Scheie Syndrome:


joint stiffness; thick skin

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.81 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.81 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.81 GALNS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.81 SLC26A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.81 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.81 ARSB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.81 IDS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.81 SLC26A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.81 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.81 IDS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.81 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.81 SLC26A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.81 GALNS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.81 IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.81 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.81 ARSB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.81 SLC26A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.81 SLC26A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.81 ARSB SLC26A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.81 IDS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.81 IDS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.81 SLC26A1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.81 SLC26A1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.81 SLC26A1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.81 GALNS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.81 GALNS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.81 GALNS IDS SLC26A1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.81 IDS

MGI Mouse Phenotypes related to Scheie Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.49 ARSA ARSB CLN3 FUCA1 GALC GBA
2 cellular MP:0005384 10.49 ARSB CLN3 FUCA1 GALC GALNS GBA
3 homeostasis/metabolism MP:0005376 10.36 ARSA ARSB CLN3 FUCA1 GALC GALNS
4 hematopoietic system MP:0005397 10.35 ARSA ARSB CLN3 GALC GBA GLB1
5 growth/size/body region MP:0005378 10.32 ARSB CLN3 GALC GBA GLA GLB1
6 immune system MP:0005387 10.31 ARSA CLN3 GALC GBA GLA GLB1
7 cardiovascular system MP:0005385 10.29 ARSB FUCA1 GALC GBA GLA HGSNAT
8 liver/biliary system MP:0005370 10.18 CLN3 GALC GBA GLA GLB1 HGSNAT
9 mortality/aging MP:0010768 10.17 CLN3 GALC GBA GLA GLB1 GNS
10 nervous system MP:0003631 10.16 ARSA ARSB CLN3 FUCA1 GALC GBA
11 craniofacial MP:0005382 10.13 ARSB GALC GUSB IDS IDUA NAGLU
12 hearing/vestibular/ear MP:0005377 10.04 ARSA ARSB FUCA1 GUSB IDS IDUA
13 limbs/digits/tail MP:0005371 10.01 ARSB GALC GUSB HGSNAT IDS IDUA
14 renal/urinary system MP:0005367 10 ARSB CLN3 FUCA1 GALC GALNS GLA
15 skeleton MP:0005390 9.73 ARSB GALC GALNS GBA GLB1 GUSB
16 vision/eye MP:0005391 9.28 ARSB CLN3 GALC GALNS GLA IDS

Drugs & Therapeutics for Scheie Syndrome

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

(show top 50) (show all 302)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
8
Melphalan Approved Phase 4 148-82-3 4053 460612
9
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
12
Ceftibuten Approved, Investigational Phase 4 97519-39-6 5282241 5282242
13
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
14
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
15
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
16
Bortezomib Approved, Investigational Phase 4 179324-69-7 93860 387447
17
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
18
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
19
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
20
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
21
Azelastine Approved Phase 4 58581-89-8 2267
22
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
23
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
24
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
25
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
26
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
27
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
28
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
29
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
30
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
31
Mycophenolic acid Approved Phase 4 24280-93-1 446541
32
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
33
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
34
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
35
Infliximab Approved Phase 4 170277-31-3
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
37
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
38 Triamcinolone diacetate Phase 4
39 Triamcinolone hexacetonide Phase 4
40 triamcinolone acetonide Phase 4
41 Estrogens Phase 4
42 Estrogens, Conjugated (USP) Phase 4
43 Cathartics Phase 4
44 Laxatives Phase 4
45 Cystatins Phase 4
46 Insulin, Globin Zinc Phase 4
47 Hypoglycemic Agents Phase 4
48 insulin Phase 4
49 Liver Extracts Phase 4
50 Amoxicillin-Potassium Clavulanate Combination Phase 4

Interventional clinical trials:

(show top 50) (show all 410)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Unknown status NCT00418821 Phase 4
2 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
3 An Open-label Randomized Controlled Clinical Trial to Assess the Efficacy and Safety of the Conversion to Everolimus 3 Months After Kidney Transplantation. Unknown status NCT01608412 Phase 4 Tacrolimus;Everolimus
4 The Effect and Risk of Conjugated Estrogens Combined With Different Types of Progestin in the Treatment of Menopause Syndrome During Window Phase Unknown status NCT03436303 Phase 4 CEE 0.625 mg/MP 100mg;CEE 0.3 mg/MP 100mg;CEE 0.625mg/dydrogesterone
5 A Single Centre, Prospective, Open-Label, Parallel Group, Randomized Study to Compare the Gastrointestinal Tolerability of Mycophenolate Mofetil (MMF, CellCept) and Enteric-Coated Mycophenolate Sodium (EC-MPS, Myfortic) in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4 MMF;EC-MPS
6 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
7 Efficacy and Safety of Certican® in Combination With Myfortic® in Adult Renal Allograft Recipients Following Calcineurin Inhibitor Withdrawal at Week 16 Compared to Patients Who Are Maintained on Tacrolimus and Myfortic® Unknown status NCT01399242 Phase 4 Certican
8 An Exploratory Evaluation of Early Use of Everolimus (EVE) on Tacrolimus (TAC)-Based Immunosuppressive Regiment vs. Mycophenolate Sodium (MPS) on Cytomegalovirus (CMV) Infection in Renal Transplant Recipients. Unknown status NCT01927588 Phase 4 Everolimus+Tacrolimus+Prednisone;Mycophenolate+Tacrolimus+Prednisone
9 Patient Reported Outcomes in Renal Transplant Patients Tolerating GI Symptoms Converted to Myfortic (EC-MPS). Unknown status NCT00676221 Phase 4 Myfortic
10 A Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients With Mucopolysaccharidosis I (MPS I) Being Treated With Aldurazyme® (Laronidase). Completed NCT00144768 Phase 4 laronidase
11 Efficacy and Tolerability of Systemic Methylprednisolone in Children and Adolescents With Chronic Rhinosinusitis Completed NCT01205984 Phase 4 methylprednisolone
12 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
13 An Open, Single Centre, Randomised, Parallel Group Study to Investigate Three Different Immunosuppressive Regimens for de Novo Renal Transplant Recipients: A Comparison of a Sirolimus / EC-MPS (Myfortic) / Tacrolimus Regimen, an Everolimus / EC-MPS / Tacrolimus Regimen and a EC-MPS / Tacrolimus Prednisone Regimen Completed NCT01183247 Phase 4 Rapamycin;Everolimus;Prednisone
14 A Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00144781 Phase 4
15 A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI) Completed NCT00299000 Phase 4 Naglazyme
16 An Exploratory, Open-Label, Single Center Study to Assess the Efficacy and Dose Titration of Enteric-Coated Mycophenolate Sodium (EC-MPS) in Reducing Donor Specific Antibody (DSA) Strength in Maintenance Kidney Transplant Recipients Completed NCT01044303 Phase 4 Myfortic Escalation
17 Multicenter, Randomized, Open-label Study to Assess Whether Treatment With Mycophenolate Sodium (MPS) Allows Higher Dose Optimization Versus Mycophenolate Mofetil (MMF) Leading to a Dose Reduction of Tacrolimus. Maximiza Study. Completed NCT01056822 Phase 4 1;2
18 Efficacy and Safety of Two Immunosuppressive Regimens Mycophenolate Sodium (EC-MPS) With Short-term Steroid Use or Free of Steroids Compared With a Regimen of EC-MPS With Standard Steroids in de Novo Kidney Recipients Completed NCT00240955 Phase 4 Enteric-coated Mycophenolate sodium (EC-MPS)
19 A Prospective, Open-label, Controlled Multicenter Trial to Assess the Efficacy and Safety of an Induction Regimen of Cyclosporine Micro Emulsion, Enteric-coated Mycophenolate Sodium (EC-MPS) and Corticosteroids, Followed by Administration of Everolimus and Enteric-coated Mycophenolate Sodium (EC-MPS), With Either the Withdrawal of Cyclosporine Micro Emulsion or Corticosteroids in de Novo Kidney Transplant Recipients Completed NCT00371826 Phase 4 Everolimus (RAD001);Cyclosporine (Calcineurin Inhibitor (CNI));Methylprednisone/prednisone;Mycophenolate sodium (MPA)
20 Multi-center, Open-label, Prospective, Randomized, Parallel Group Study Investigating a CNI-free Regimen With Enteric-Coated Mycophenolate Sodium (EC-MPS) and Everolimus in Comparison to Standard Therapy With Enteric-Coated Mycophenolate Sodium (EC-MPS) and Cyclosporine Microemulsion in de Novo Renal Transplant Patients Completed NCT00154310 Phase 4 Everolimus;Cyclosporine;Enteric-coated mycophenolate sodium;Corticosteroids
21 A Single-site, Open-Label Prospective Evaluation of Biocompatibility and Corneal Staining Associated With Use of Bausch & Lomb (B+L) BioTrue Contact Lens Multi-purpose Solution (MPS) and B+L PureVision Contact Lenses. Completed NCT01268306 Phase 4
22 REPLACE: Safety and Efficacy of Basiliximab in Calcineurin Inhibitor Intolerant Long-term Kidney Transplant Recipients Treated With Mycophenolic Acid and Steroids Completed NCT00284947 Phase 4 basiliximab;MMF/EC-MPS;Corticosteroids
23 Organ Function Preservation by the Combination Treatment of the optImuM Dose of calcineUrin Inhibitor and Mycophenolate Sodium in Kidney Recipients: OPTIMUM Study Completed NCT01159080 Phase 4 routine dose tacrolimus and less myfortic;reduced dose tacrolimus and conventional myfortic
24 Effect of Topical Dexamethasone on Histologic Response of Human Dental Pulp Completed NCT02574468 Phase 4 Dexamethasone applied on pulp or Dexamethasone did not applied on pulp
25 A 12-week Multicenter, Randomized, Open Study to Evaluate the Effects of Enteric-coated Mycophenolate Sodium (EC-MPS) in Terms of Quality of Life in Patients With Gastrointestinal (GI) Symptoms Treated With MMF (Mycophenolate Mofetil) After Kidney Transplant. Completed NCT00400647 Phase 4 Enteric-coated Mycophenolate sodium (EC-MPS);Mycophenolate mofetil
26 A 4-week, Multicenter, Double-blind, Double-dummy, Randomized, Parallel Group Study to Compare the Gastrointestinal Safety and Tolerability of EC-MPS & MMF When Administered in Combination With Calcineurin Inhibitors in Renal Transplant Recipients Experiencing Gastrointestinal Intolerance Completed NCT00400400 Phase 4 Enteric-coated mycophenolate sodium (EC-MPS);Mycophenolate mofetil;Placebo to mycophenolate sodium;Placebo to mycophenolate mofetil
27 Efficacy and Safety of Certican® (Everolimus) in Combination With Myfortic® (EC-MPS, Enteric-coated Mycophenolate Sodium) After Early CNI Elimination Versus Myfortic® in Combination With Prograf® in Renal Transplant Recipients Completed NCT00965094 Phase 4 Everolimus;Tacrolimus (FK506);Basiliximab;Enteric Coated Mycophenolate Sodium (EC-MPS);Corticosteroids
28 Phase IV Study of Efficacy and Safety of Enteric-Coated Mycophenolate Sodium (EC-MPS) in Combination With Cyclosporine Microemulsion (CsA-ME) in Kidney Transplant Patients Completed NCT00239083 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
29 A 6-month, 1-arm, Open-label Study to Investigate the Tolerability and Safety of Converting Stable Renal Transplant Recipients Who Receive Tacrolimus With or Without Corticosteroids From Mycophenolate Mofetil (MMF) to Enteric-coated Mycophenolate Sodium (EC-MPS) Completed NCT00238979 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
30 A Prospective, Open Label Protocol to Assess the Efficacy and Safety of Enteric-coated Mycophenolate Sodium (EC-MPS) in de Novo Kidney Transplant Recipients Completed NCT00238953 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
31 A Six-month, Prospective, Multicenter, Open Label, Parallel, Randomized Study of the Safety, Tolerability and Efficacy of EC-MPS With Basiliximab, Corticosteroids and Two Different Levels of Tacrolimus in de Novo Renal Transplant Recipients Completed NCT00229138 Phase 4 EC-MPS, Tacrolimus
32 A One-year, Open Label Study to Investigate the Safety and the Effect of Enteric-coated Mycophenolate Sodium (EC-MPS) in Combination With Cyclosporine Microemulsion in de Novo Kidney Transplant Recipients. Completed NCT00154245 Phase 4 Enteric-Coated Mycophenolate sodium (EC-MPS)
33 Conversion Trial From Mycophenolate Mofetil (MMF) to Enteric-Coated Mycophenolate Sodium (EC-MPS) in Stable Transplanted Patients Suffering From GI Adverse Events While on Mycophenolate Mofetil Therapy Completed NCT00149942 Phase 4 Enteric-coated Mycophenolate sodium (EC-MPS)
34 A Prospective Study to Investigate Mycophenolic Acid (MPA) Exposure Through Area Under the Curve (AUC) in Renal Transplants Recipients Treated With Mycophenolate Mofetil (MMF) and After Conversion to Mycophenolate Sodium (EC-MPS) Completed NCT01822483 Phase 4 Mycophenolate sodium;Mycophenolate mofetil
35 Clinical Trial to Assess Onset of Action of Azelastine Hydrochloride and Fluticasone Propionate Nasal Spray Delivered in a Single Spray (MP-AzeFlu) in the Treatment of Allergen-Induced Allergic Rhinitis Symptoms in Comparison to Placebo and Free Combination of Fluticasone Propionate Nasal Spray and Oral Loratadine Completed NCT03004131 Phase 4 Azelastine hydrochloride + fluticasone propionate nasal spray;Placebos;fluticasone propionate nasal spray + loratadine
36 A Prospective, Open Label, Multicenter Study to Assess the Efficacy and Safety of Enteric-coated Mycophenolate Sodium (EC-MPS) in de Novo Kidney Transplant Recipients Completed NCT00312143 Phase 4 Enteric-coated Mycophenolate sodium (EC-MPS)
37 A Study of the Effect of Conversion to Enteric-Coated Mycophenolate Sodium (EC-MPS) on Quality of Life in Patients With Gastrointestinal (GI) Symptoms Related to Mycophenolate Mofetil Therapy After Kidney Transplantation (MYQOL) Completed NCT00239005 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS);Mycophenolate Mofetil (MMF)
38 A One Arm, Open-label Study to Investigate the Tolerability and Safety of Enteric-coated Mycophenolate Sodium (EC-MPS) in Renal Transplant Recipients Who Received Mycophenolate Mofetil (MMF) Completed NCT00238966 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
39 A Prospective, Open-label, Multicenter, International Follow-up Study on the Safety and Efficacy of Enteric-coated Mycophenolate Sodium (EC-MPS) in Kidney Transplant Recipients Completed NCT00241059 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
40 A 3 Month, Multicenter, Open-label Study to Evaluate the Impact of the Immunosuppressive Combination of Enteric-Coated Mycophenolate Sodium (EC- MPS), Basiliximab and Cyclosporine for Microemulsion With C2 Monitoring, on Efficacy and Safety Outcomes in de Novo Kidney Transplant Recipients at Potential High Risk of DGF. Completed NCT00154232 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
41 A Multicenter, Open, Single Arm, Pilot Study to Evaluate Efficacy, Tolerability and Safety of Enteric-Coated Mycophenolate Sodium (EC-MPS) in Combination With Cyclosporine Microemulsion and Steroids in Pediatric de Novo Renal Transplant Patients Completed NCT00154206 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
42 Thalidomide-Cyclophosphamide-Dexamethasone in Patients < 75 Years or Velcade-Melfalan-Prednisone (V-MP)/Thalidomide-Cyclophosphamide-Dexamethasone in Patients >75 Years, in Refractary or Relapsed Multiple Myeloma Completed NCT00652041 Phase 4 Bortezomib;Thalidomide;Bortezomib
43 A Phase IV Study of Teneligliptin (MP-513) in Combination With Insulin in Japanese Patients With Type 2 Diabetes Mellitus Completed NCT02081599 Phase 4 Teneli (Teneligliptin);Placebo;Insulin
44 Efficacy and Safety of Enteric-coated Mycophenolate Sodium (EC-MPS) in Cyclosporine Microemulsion Based Regimen in de Novo Living Donor Kidney Transplant Recipients ; A Prospective, Open Label, Multi-center Study Completed NCT00537862 Phase 4 Enteric-Coated Mycophenolate Sodium (EC-MPS)
45 Comfort Evaluation of a New MPS vs. Replenish in Contact Lens Patients Completed NCT00518700 Phase 4
46 A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
47 Randomized Controlled Trial Evaluating Combination Rupatadine and Fluticasone Propionate Compared to Azelastine Hydrochloride and Fluticasone Propionate in Treating Allergic Rhinitis Not yet recruiting NCT04601324 Phase 4 Fluticasone Propionate;Azelastine hydrochloride and fluticasone propionate;Rupatadine
48 Pre-emptive Scalp Infiltration With Ropivacaine Plus Methylprednisolone vs Ropivacaine Alone for Relief of Postoperative Pain After Craniotomy in Children (RP/MP vs RP) Not yet recruiting NCT03636165 Phase 4 Methylprednisolone;Ropivacaine
49 Optimum Immunosuppression in Renal Transplant Recipients at High Risk of Developing New Onset Diabetes After Transplantation: A Multicenter, Prospective, Controlled and Randomized Trial. Terminated NCT01002339 Phase 4 Tacrolimus with rapid steroid withdrawal;Tacrolimus with steroids minimization;CsA with steroid minimization
50 Phase 4, Open Label Multicenter Randomized Controlled Trial. Comparison of 2 Immunomodulator Withdrawal Schemes for Infliximab Monotherapy in Active Pediatric Crohn's Disease After Immunomodulator Failure Terminated NCT01802593 Phase 4 AZATHIOPRINE or METHOTREXATE;AZATHIOPRINE or METHOTREXATE

Search NIH Clinical Center for Scheie Syndrome

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


Laronidase

Cell-based therapeutics:


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

Genetic Tests for Scheie Syndrome

Genetic tests related to Scheie Syndrome:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type 1 29

Anatomical Context for Scheie Syndrome

MalaCards organs/tissues related to Scheie Syndrome:

40
Eye, Bone Marrow, Heart, Prostate, Liver, Bone, Spleen
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 341)
# Title Authors PMID Year
1
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 57 25 6 54
8664897 1996
2
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. 25 6 54 61
19396826 2009
3
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. 6 25 61 54
9787109 1998
4
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. 61 54 6 25
1550122 1992
5
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 6 57
11735025 2001
6
Mutations among Italian mucopolysaccharidosis type I patients. 54 6 25
9427149 1997
7
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. 61 25 6
9391892 1997
8
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 6 57
7550242 1995
9
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. 6 57
4112371 1972
10
The genetic mucopolysaccharidoses. 57 6
4221470 1965
11
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. 25 6
31194252 2019
12
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. 25 6
28752568 2017
13
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 25 6
23786846 2013
14
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 6 25
21394825 2011
15
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). 6 54 61
17606547 2007
16
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation. 6 61 54
14559116 2003
17
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. 6 61 54
12189649 2002
18
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 6 54 61
10466419 1999
19
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 61 54 6
8680403 1995
20
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 54 61 6
7550232 1995
21
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 6 25
7951228 1994
22
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. 6 25
8019563 1994
23
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. 61 6
29282708 2018
24
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. 6 61
29843745 2018
25
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years. 6 61
29705972 2018
26
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. 61 6
27146977 2016
27
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series. 61 6
27196898 2016
28
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 6 61
24368159 2014
29
Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms. 54 6
19839758 2009
30
A homology model for human alpha-l-iduronidase: insights into human disease. 54 6
15862278 2005
31
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. 54 6
16435195 2005
32
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. 54 6
15300847 2004
33
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene. 54 6
12509712 2002
34
Mucopolysaccharidosis Type I 61 6
20301341 2002
35
Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). 57 61
10220555 1999
36
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online. 61 6
10215409 1998
37
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. 6 61
8213840 1993
38
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele. 6 61
8318992 1993
39
Structure and sequence of the human alpha-L-iduronidase gene. 6 54
1505961 1992
40
Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein. 6 54
1627351 1992
41
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. 54 57
2220820 1990
42
Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients. 57 61
6421718 1984
43
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses. 6
30903511 2019
44
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. 6
30809705 2019
45
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
46
Newborn screening in mucopolysaccharidoses. 6
30442156 2018
47
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. 6
30083803 2018
48
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. 6
29906569 2018
49
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial. 6
29976218 2018
50
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. 6
29801497 2018

Variations for Scheie Syndrome

ClinVar genetic disease variations for Scheie Syndrome:

6 (show top 50) (show all 289)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDUA , SLC26A1 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) SNV Benign, other 195038 rs58037052 GRCh37: 4:981673-981673
GRCh38: 4:987885-987885
2 IDUA , SLC26A1 NM_000203.5(IDUA):c.246C>G (p.His82Gln) SNV Uncertain significance, other 92637 rs148775298 GRCh37: 4:981684-981684
GRCh38: 4:987896-987896
3 IDUA NM_000203.5(IDUA):c.965T>A (p.Val322Glu) SNV Benign, other 222992 rs76722191 GRCh37: 4:995942-995942
GRCh38: 4:1002154-1002154
4 IDUA NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) SNV other 426817 rs183347428 GRCh37: 4:995544-995544
GRCh38: 4:1001756-1001756
5 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
6 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
7 IDUA NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) SNV Pathogenic 11917 rs121965025 GRCh37: 4:998080-998080
GRCh38: 4:1004292-1004292
8 IDUA NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) SNV Pathogenic 280976 rs121965031 GRCh37: 4:998074-998074
GRCh38: 4:1004286-1004286
9 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
10 IDUA NM_000203.5(IDUA):c.876del (p.Asp292fs) Deletion Pathogenic 456720 rs1553917209 GRCh37: 4:995853-995853
GRCh38: 4:1002065-1002065
11 IDUA NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) SNV Pathogenic 11925 rs121965032 GRCh37: 4:996175-996175
GRCh38: 4:1002387-1002387
12 IDUA NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) Deletion Pathogenic 92636 rs398123258 GRCh37: 4:997871-997871
GRCh38: 4:1004083-1004083
13 IDUA , SLC26A1 NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) SNV Pathogenic 222993 rs758452450 GRCh37: 4:981661-981661
GRCh38: 4:987873-987873
14 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
15 IDUA NM_000203.5(IDUA):c.386-2A>G SNV Pathogenic 222994 rs777295041 GRCh37: 4:994668-994668
GRCh38: 4:1000880-1000880
16 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) Duplication Pathogenic 11921 rs786200915 GRCh37: 4:995488-995489
GRCh38: 4:1001700-1001701
17 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
18 IDUA NM_000203.5(IDUA):c.1728-2A>G SNV Pathogenic 557744 rs1553917699 GRCh37: 4:997798-997798
GRCh38: 4:1004010-1004010
19 IDUA NM_000203.5(IDUA):c.1190-10_*10del Deletion Pathogenic 973582 GRCh37: 4:996510-998191
GRCh38: 4:1002722-1004403
20 IDUA NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) SNV Pathogenic 987878 GRCh37: 4:995872-995872
GRCh38: 4:1002084-1002084
21 IDUA NM_000203.5(IDUA):c.590-7G>A SNV Pathogenic 222996 rs762411583 GRCh37: 4:995460-995460
GRCh38: 4:1001672-1001672
22 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
23 IDUA NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) SNV Pathogenic 222997 rs764196171 GRCh37: 4:996113-996113
GRCh38: 4:1002325-1002325
24 IDUA NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) SNV Pathogenic 222995 rs869025584 GRCh37: 4:995530-995530
GRCh38: 4:1001742-1001742
25 IDUA , SLC26A1 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) SNV Pathogenic 193061 rs794726877 GRCh37: 4:981024-981024
GRCh38: 4:987236-987236
26 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
27 IDUA , SLC26A1 NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV Pathogenic 11922 rs121965029 GRCh37: 4:981704-981704
GRCh38: 4:987916-987916
28 IDUA , SLC26A1 NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) Deletion Pathogenic 92643 rs398123260 GRCh37: 4:980907-980918
GRCh38: 4:987119-987130
29 IDUA NM_000203.5(IDUA):c.590-7G>A SNV Pathogenic 222996 rs762411583 GRCh37: 4:995460-995460
GRCh38: 4:1001672-1001672
30 IDUA NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) SNV Pathogenic 11920 rs387906504 GRCh37: 4:998179-998179
GRCh38: 4:1004391-1004391
31 IDUA NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) SNV Pathogenic 265418 rs148789453 GRCh37: 4:995590-995590
GRCh38: 4:1001802-1001802
32 IDUA NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) SNV Pathogenic 855322 GRCh37: 4:995913-995913
GRCh38: 4:1002125-1002125
33 IDUA , SLC26A1 NM_000203.5(IDUA):c.164dup (p.Leu56fs) Duplication Pathogenic 855487 GRCh37: 4:981596-981597
GRCh38: 4:987808-987809
34 IDUA NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) SNV Pathogenic 11919 rs121965027 GRCh37: 4:996890-996890
GRCh38: 4:1003102-1003102
35 IDUA NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) SNV Pathogenic 496834 rs794727896 GRCh37: 4:996247-996247
GRCh38: 4:1002459-1002459
36 IDUA NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) SNV Pathogenic 11927 rs121965033 GRCh37: 4:996121-996121
GRCh38: 4:1002333-1002333
37 IDUA NM_000203.5(IDUA):c.1614del (p.His539fs) Deletion Pathogenic 167191 rs727503967 GRCh37: 4:997222-997222
GRCh38: 4:1003434-1003434
38 IDUA NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) SNV Pathogenic 567566 rs781136336 GRCh37: 4:997185-997185
GRCh38: 4:1003397-1003397
39 IDUA , SLC26A1 NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) SNV Pathogenic 580286 rs754966840 GRCh37: 4:981703-981703
GRCh38: 4:987915-987915
40 IDUA NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) SNV Pathogenic 11918 rs121965026 GRCh37: 4:996896-996896
GRCh38: 4:1003108-1003108
41 IDUA NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) SNV Pathogenic 552095 rs1340421020 GRCh37: 4:996540-996540
GRCh38: 4:1002752-1002752
42 IDUA , SLC26A1 NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) Duplication Pathogenic 638820 rs1577508778 GRCh37: 4:981607-981608
GRCh38: 4:987819-987820
43 IDUA , SLC26A1 NM_000203.5(IDUA):c.2T>C (p.Met1Thr) SNV Pathogenic 639529 rs753767675 GRCh37: 4:980874-980874
GRCh38: 4:987086-987086
44 IDUA NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) SNV Pathogenic 651168 rs1356329915 GRCh37: 4:996877-996877
GRCh38: 4:1003089-1003089
45 IDUA NM_000203.5(IDUA):c.1402+2T>G SNV Pathogenic 553131 rs1553917428 GRCh37: 4:996734-996734
GRCh38: 4:1002946-1002946
46 IDUA NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) SNV Pathogenic 557870 rs746766617 GRCh37: 4:996128-996128
GRCh38: 4:1002340-1002340
47 IDUA NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) Duplication Pathogenic 550382 rs779762183 GRCh37: 4:995851-995852
GRCh38: 4:1002063-1002064
48 IDUA , SLC26A1 NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) SNV Pathogenic 655054 rs1577508801 GRCh37: 4:981616-981616
GRCh38: 4:987828-987828
49 IDUA NM_000203.5(IDUA):c.300-3C>G SNV Pathogenic 551563 rs1226056948 GRCh37: 4:994397-994397
GRCh38: 4:1000609-1000609
50 IDUA NM_000203.5(IDUA):c.1395dup (p.Gly466fs) Duplication Pathogenic 845547 GRCh37: 4:996719-996720
GRCh38: 4:1002931-1002932

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

72 (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

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:

36
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 NPC2 HGSNAT GUSB GNS GLB1 GLA
2
Show member pathways
13.74 SUMF1 SLC26A1 SGSH NPC2 NAGLU IDUA
3
Show member pathways
12.66 SLC26A1 SGSH NAGLU IDUA IDS GUSB
4
Show member pathways
12.46 SGSH NAGLU IDUA IDS GUSB GLB1
5
Show member pathways
12.27 SUMF1 GLB1 GLA GBA GALC ARSB
6 11.71 SUMF1 SGSH NPC2 NAGLU IDUA IDS
7
Show member pathways
11.67 SUMF1 ARSB ARSA
8
Show member pathways
10.96 SGSH NAGLU IDUA IDS HGSNAT GUSB
9 10.92 GLB1 GBA FUCA2 FUCA1

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 10.1 SGSH NPC2 NAGLU IDUA GUSB GNS
2 extracellular region GO:0005576 10.07 NPC2 GUSB GNS GLB1 GLA GALNS
3 azurophil granule lumen GO:0035578 9.85 NPC2 GUSB GNS GLB1 GLA GALNS
4 lysosomal lumen GO:0043202 9.83 SGSH NPC2 NAGLU IDUA IDS GUSB
5 endoplasmic reticulum lumen GO:0005788 9.71 SUMF1 FUCA2 ARSB ARSA
6 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
7 lysosome GO:0005764 9.58 SGSH NPC2 NAGLU IDUA IDS HGSNAT
8 vacuole GO:0005773 9.43 GLB1 CLN3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.9 NPC2 HGSNAT GUSB GNS GLB1 GLA
2 carbohydrate metabolic process GO:0005975 9.85 IDUA GUSB GLB1 GLA FUCA2 FUCA1
3 central nervous system development GO:0007417 9.74 GBA ARSB ARSA
4 glycosphingolipid metabolic process GO:0006687 9.73 SUMF1 GLB1 GLA GBA GALC ARSA
5 response to estrogen GO:0043627 9.71 GBA ARSB ARSA
6 lysosome organization GO:0007040 9.71 NAGLU GBA CLN3 ARSB
7 chondroitin sulfate catabolic process GO:0030207 9.65 IDUA IDS ARSB
8 keratan sulfate catabolic process GO:0042340 9.63 GNS GLB1 GALNS
9 response to pH GO:0009268 9.61 GBA ARSB ARSA
10 metabolic process GO:0008152 9.61 NAGLU IDUA GUSB GLB1 GLA GBA
11 lysosomal transport GO:0007041 9.56 HGSNAT ARSB
12 glycosaminoglycan metabolic process GO:0030203 9.55 SGSH GNS
13 fucose metabolic process GO:0006004 9.52 FUCA2 FUCA1
14 response to methylmercury GO:0051597 9.51 ARSB ARSA
15 glycoside catabolic process GO:0016139 9.5 GLA FUCA2 FUCA1
16 glycolipid transport GO:0046836 9.49 NPC2 CLN3
17 glycosaminoglycan catabolic process GO:0006027 9.28 SGSH NAGLU IDUA IDS HGSNAT GUSB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.03 SGSH NAGLU IDUA IDS GUSB GNS
2 catalytic activity GO:0003824 9.86 SGSH IDS GNS GLA GALNS GALC
3 signaling receptor binding GO:0005102 9.8 IDUA GUSB GLA GBA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.62 IDUA GUSB GLB1 GLA
5 arylsulfatase activity GO:0004065 9.54 GALNS ARSB ARSA
6 galactoside binding GO:0016936 9.48 GLB1 GLA
7 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.46 SGSH GNS
8 alpha-L-fucosidase activity GO:0004560 9.43 FUCA2 FUCA1
9 sulfuric ester hydrolase activity GO:0008484 9.43 SGSH IDS GNS GALNS ARSB ARSA
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
11 hydrolase activity, acting on glycosyl bonds GO:0016798 9.28 NAGLU IDUA GUSB GLB1 GLA GBA

Sources for Scheie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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