MPS1S
MCID: SCH036
MIFTS: 72

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 56 12 74 52 25 58 73 15 37
Mucopolysaccharidosis Type I 24 52 25 58 36 54
Alpha-L-Iduronidase Deficiency 24 52 58 73 71
Mucopolysaccharidosis Type is 56 12 52 58 73
Mucopolysaccharidosis I 12 25 15 71
Hurler-Scheie Syndrome 12 52 25 71
Mucopolysaccharidosis Type 1s 12 52 58
Mucopolysaccharidosis Type V 12 74 73
Mucopolysaccharidosis Type 1 58 29 6
Mucopolysaccharidosis is 56 52 13
Hurler Syndrome 12 52 25
Idua Deficiency 24 52 25
Mps I 24 52 25
Mps1s 52 58 73
Mucopolysaccharidosis Type V, Formerly 56 52
Mucopolysaccharidosis, Type I 39 32
Mps V, Formerly 56 52
Mps5, Formerly 56 52
Mps1-S 56 52
Mpsis 52 58
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) 52
Mucopolysaccharidosis Type is; Mps1-S 56
Mps V, Formerly; Mps5, Formerly 56
Iduronidase Deficiency Disease 12
Mucopolysaccharidosis, Type 1 12
Mucopolysaccharidosis, Mps-I 12
Pfaundler-Hurler Syndrome 71
Mucopolysaccharidosis 1s 73
Mps I - Hurler Syndrome 12
Mucopolysaccharidosis V 71
Lipochondrodystrophy 12
Attenuated Mps I 52
Syndrome, Scheie 39
Severe Mps I 52
Mps I H-S 25
Mps I H 25
Mps I S 25
Mps is 73
Mps-is 73
Mps 1 52
Mps V 73
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:

56
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

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. 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 i, 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 Diclofenac and Polidocanol have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone marrow and brain, and related phenotypes are coarse facial features and splenomegaly

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

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 261)
# Related Disease Score Top Affiliating Genes
1 hurler-scheie syndrome 33.5 SUMF1 SGSH NAGLU IDUA GALNS FUCA2
2 gm1-gangliosidosis, type i 32.0 GLB1 GLA ARSA
3 mucolipidosis iii alpha/beta 31.4 IGF2R GUSB FUCA2 FUCA1 BSG
4 hurler syndrome 31.1 NAGLU IGF2R IDUA IDS GLB1 GALNS
5 mucopolysaccharidoses 30.7 NAGLU IDUA GUSB ARSH ARSB
6 gangliosidosis 30.5 GLB1 GALNS
7 leukodystrophy 30.2 SUMF1 IDUA ARSH ARSB ARSA
8 hydrocephalus 29.6 SUMF1 ARSH ARSB ARSA
9 gaucher disease, type i 29.5 IDUA GLA GBA ARSH ARSA
10 krabbe disease 29.5 IGF2R IDUA GLA GBA ARSH ARSA
11 mucolipidosis ii alpha/beta 29.4 IGF2R GUSB FUCA1 BSG ARSH
12 inherited metabolic disorder 29.3 NPC2 IDUA GLA GBA GALNS
13 fabry disease 29.2 GUSB GLA GBA FUCA1 ARSA
14 mucolipidosis 28.7 SUMF1 NPC2 IGF2R GALNS BSG ARSH
15 metachromatic leukodystrophy 28.6 SUMF1 SGSH NPC2 IGF2R IDUA GLA
16 gm2 gangliosidosis 28.5 NPC2 IGF2R GLB1 GLA GBA ARSH
17 mucopolysaccharidosis, type vi 27.2 SUMF1 SGSH NAGLU IGF2R IDUA IDS
18 mucopolysaccharidosis, type iiia 27.1 SUMF1 SGSH NAGLU IGF2R IDUA IDS
19 mucopolysaccharidosis, type ii 27.0 SUMF1 SGSH NAGLU IGF2R IDUA IDS
20 mucopolysaccharidosis iii 26.5 SUMF1 SGSH NPC2 NAGLU IGF2R IDUA
21 lysosomal storage disease 25.8 SUMF1 SGSH NPC2 NAGLU IGF2R IDUA
22 mucopolysaccharidosis-plus syndrome 25.6 SUMF1 SGSH NPC2 NAGLU IGF2R IDUA
23 malignant migrating partial seizures of infancy 11.4
24 epileptic encephalopathy, early infantile, 6 11.3
25 polyposis syndrome, hereditary mixed, 1 10.5
26 colorectal cancer 10.3
27 glioblastoma multiforme 10.3
28 carpal tunnel syndrome 10.3
29 graft-versus-host disease 10.3
30 dysostosis 10.3
31 cerebral lipidosis 10.3 IGF2R GLB1
32 mongolian spot 10.3 NAGLU IDUA GLB1
33 charcot-marie-tooth disease, axonal, type 2v 10.3 NAGLU IGF2R
34 gm1-gangliosidosis, type ii 10.3 IDS GLB1 GALNS
35 acute graft versus host disease 10.2
36 lysosomal storage disease with skeletal involvement 10.2
37 kluver-bucy syndrome 10.2 SGSH NAGLU HGSNAT
38 mitral valve stenosis 10.2
39 arthropathy 10.2
40 polyposis syndrome, hereditary mixed, 2 10.2 GLA ARSB
41 hepatocellular carcinoma 10.2
42 helix syndrome 10.2
43 melanoma 10.2
44 adrenoleukodystrophy 10.2
45 adrenomyeloneuropathy 10.2
46 simple partial epilepsy 10.2 IGF2R BSG
47 aspartylglucosaminuria 10.2 IGF2R IDUA ARSA
48 galactosialidosis 10.2 IDUA GLB1 GALNS ARSH
49 refractive error 10.2
50 morquio syndrome 10.1 GUSB GLB1 GALNS ARSH

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 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000280
2 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001744
3 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
4 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
5 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
6 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
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 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
22 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
23 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
24 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
25 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
26 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
27 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
28 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
29 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
30 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000407
31 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
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 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
37 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000232
38 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
39 abnormal nasal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005105
40 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
41 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
42 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
43 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
44 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
45 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
46 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
47 abnormality of the tonsils 58 31 frequent (33%) Frequent (79-30%) HP:0100765
48 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
49 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
50 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Scheie Syndrome:


joint stiffness, thick skin

MGI Mouse Phenotypes related to Scheie Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.47 ARSB BSG FUCA1 GALNS GBA GLA
2 behavior/neurological MP:0005386 10.46 ARSA ARSB FUCA1 GBA GLA GLB1
3 growth/size/body region MP:0005378 10.39 ARSB BSG FUCA1 GBA GLA GLB1
4 hematopoietic system MP:0005397 10.37 ARSA ARSB BSG GBA GLB1 GNS
5 homeostasis/metabolism MP:0005376 10.35 ARSA ARSB BSG FUCA1 GALNS GBA
6 immune system MP:0005387 10.27 ARSA BSG GBA GLA GLB1 GNS
7 cardiovascular system MP:0005385 10.25 ARSB GBA GLA HGSNAT IDUA IGF2R
8 nervous system MP:0003631 10.22 ARSA ARSB BSG FUCA1 GBA GLA
9 mortality/aging MP:0010768 10.21 BSG GBA GLA GLB1 GNS GUSB
10 liver/biliary system MP:0005370 10.18 BSG GBA GLA GLB1 HGSNAT IDS
11 craniofacial MP:0005382 10.13 ARSB GUSB IDS IDUA IGF2R NAGLU
12 renal/urinary system MP:0005367 10.07 ARSB BSG FUCA1 GALNS GLA GLB1
13 limbs/digits/tail MP:0005371 10.03 ARSB GUSB HGSNAT IDS IDUA IGF2R
14 skeleton MP:0005390 9.77 ARSB FUCA1 GALNS GBA GLB1 GUSB
15 respiratory system MP:0005388 9.7 ARSB BSG GBA HGSNAT IDS IGF2R
16 vision/eye MP:0005391 9.23 ARSB BSG GALNS GLA IDS IDUA

Drugs & Therapeutics for Scheie Syndrome

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

(show top 50) (show all 119)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Polidocanol Approved Phase 4 9002-92-0
3 Antibodies Phase 4
4 Immunoglobulins Phase 4
5 Anti-Inflammatory Agents Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Analgesics Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Cyclooxygenase Inhibitors Phase 4
10 Sclerosing Solutions Phase 4
11
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
12
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
13
Mycophenolic acid Approved Phase 3 24280-93-1 446541
14
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
15
tannic acid Approved Phase 3 1401-55-4
16
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
17
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
18
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
19
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
20 Immunologic Factors Phase 3
21 Anti-Infective Agents Phase 3
22 Immunosuppressive Agents Phase 3
23 Antifungal Agents Phase 3
24 Calcineurin Inhibitors Phase 3
25 Hormones Phase 3
26 Antitubercular Agents Phase 3
27 Anti-Bacterial Agents Phase 3
28 Antibiotics, Antitubercular Phase 3
29 Hormone Antagonists Phase 3
30 Antineoplastic Agents, Hormonal Phase 3
31 glucocorticoids Phase 3
32 triamcinolone acetonide Phase 3
33 Triamcinolone hexacetonide Phase 3
34 Triamcinolone diacetate Phase 3
35
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
36
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
37
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
38
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
39 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
40
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
41
Mesna Approved, Investigational Phase 2 3375-50-6 598
42
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
43
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
44
Hydroxyurea Approved Phase 2 127-07-1 3657
45
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
46
Melphalan Approved Phase 2 148-82-3 460612 4053
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
49
rituximab Approved Phase 2 174722-31-7 10201696
50
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986

Interventional clinical trials:

(show top 50) (show all 99)
# 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 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
3 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
4 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)
5 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
6 MuscleCare™ Pain Relief Therapy vs. Voltaren® in the Relief of Trapezius Trigger Point Musculoskeletal Pain. Completed NCT03939884 Phase 4 MuscleCare Topical Product;Voltaren Topical;Nivea, Topical Cream
7 A Multicenter Prospective Clinical Study of Endoscopic Foam Sclerotherapy for Internal Hemorrhoids Recruiting NCT04398823 Phase 4 Sclerosing foam of Lauromacrogol;Sclersing liqiud of Lauromacrogol
8 Magnetic Resonance Diabetic Cardiac Stress Imaging : MRDIABETICS Terminated NCT00797082 Phase 4
9 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
10 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
11 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I Completed NCT00912925 Phase 3
12 A Prospective, Open-label, Multicenter Extension Study on the Efficacy and Safety of Enteric-coated Mycophenolate Sodium (EC-MPS) in Heart Transplant Recipients Completed NCT00238446 Phase 3 EC-MPS
13 Comparative Efficacy of Platelet Rich Plasma Injection and Dry Needling in Management of Trigger Points in Masseter Muscle in Myofascial Pain Syndrome Patients Recruiting NCT04286880 Phase 3
14 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
15 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
16 A Prospective, Randomized, Open-Label, Pilot Study To Compare The Effect On Carotid Atherosclerosis Of A Tacrolimus-Based Regimen With Conversion From A Tacrolimus- To A Sirolimus-Based Regimen At 3-4 Months Post-Transplant In De Novo Renal Transplant Recipients Terminated NCT00311311 Phase 3 tacrolimus;mycophenolate mofetil;prednisone;sirolimus;tacrolimus;mycophenolate mofetil;prednisone
17 An Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181 Completed NCT03071341 Phase 1, Phase 2 AGT-181
18 A Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Completed NCT03053089 Phase 1, Phase 2 AGT-181
19 A Trial of Antigen-specific Immune Tolerance Induction in Mucopolysaccharidosis I (MPS I) Patients Initiating Enzyme Replacement Therapy With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
20 A Phase II Open-Label Clinical Trial of Recombinant Human Alpha-L-iduronidase (Aldurazyme®) to Evaluate the Safety and Pharmacokinetics in Mucopolysaccharidosis I (MPS I) Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
21 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
22 Phase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH) Completed NCT00176891 Phase 2 Laronidase ERT
23 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
24 A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI Completed NCT03370653 Phase 2 Odiparcil
25 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
26 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
27 A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of Intracisternal RGX-111 in Subjects With Mucopolysaccharidosis Type I Recruiting NCT03580083 Phase 1, Phase 2
28 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I and II Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
29 Phase I/II Study Evaluating Safety and Efficacy of Autologous Hematopoietic Stem and Progenitor Cells Genetically Modified With IDUA Lentiviral Vector Encoding for the Human α-L-iduronidase Gene for the Treatment of Patients Affected by Mucopolysaccharidosis Type I, Hurler Variant Recruiting NCT03488394 Phase 1, Phase 2
30 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
31 A Phase 2, Single-arm, Open-label Study to Evaluate the Safety and Efficacy of MGTA-456 in Patients With Inherited Metabolic Disorders (IMD) Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
32 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
33 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
34 A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I) Active, not recruiting NCT02702115 Phase 1, Phase 2
35 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
36 PErsonalized TREatment of High-risk MAmmary Cancer - the PETREMAC Trial Active, not recruiting NCT02624973 Phase 2 Neoadjuvant tamoxifen + goserelin (premenopausal women);Neoadjuvant letrozole (postmenopausal women);Neoadjuvant endocrine therapy + palbociclib (if lack of response to endocrine therapy alone);Neoadjuvant docetaxel + cyclophosphamide;Neoadjuvant docetaxel;Neoadjuvant docetaxel + trastuzumab + pertuzumab;Neoadjuvant docetaxel + cyclophosphamide + trastuzumab + pertuzumab;Neoadjuvant olaparib;Neoadjuvant cyclophosphamide (after 10 weeks of olaparib alone);Adjuvant trastuzumab;Adjuvant letrozole (postmenopausal women);Adjuvant tamoxifen + goserelin (premenopausal women);Adjuvant palbociclib (if palbociclib given neoadjuvant);Adjuvant Epirubicin+ Cyclophosphamide
37 Phase I/II Trial of S 81694 Administered Intravenously in Combination With Paclitaxel to Evaluate the Safety, Pharmacokinetic and Efficacy in Metastatic Breast Cancer Active, not recruiting NCT03411161 Phase 1, Phase 2 Combination therapy (S81694 + paclitaxel) phase I;Paclitaxel;Combination therapy (S81694 + paclitaxel) phase II
38 Phase I/II Study of JR‐171 ㏌ Patients With Mucopolysaccharidosis Type I Not yet recruiting NCT04227600 Phase 1, Phase 2 JR-171
39 Sleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic Transplantation Not yet recruiting NCT04284254 Phase 1, Phase 2 Autologous Plasmablasts
40 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
41 A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs) for Transplantation in Pediatric and Adult Patients With Hematologic Malignancies and Other Indications Withdrawn NCT01479582 Phase 2 Access to unlicensed cord blood units
42 A Single-arm, Open-label, Study to Evaluate the Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Undergoing Stem Cell Transplantation After Reduced Intensity Conditioning Withdrawn NCT02715505 Phase 1, Phase 2 Umbilical cord blood transplantation with HSC835
43 A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Unknown status NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
44 Pilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler Syndrome Completed NCT01173016 Phase 1 Laronidase
45 Intrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome) Completed NCT00638547 Phase 1 IRT Laronidase
46 An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102 Completed NCT02597114 Phase 1 AGT-181
47 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
48 An Open-label Randomized Two-arm Phase I Dose-escalation Study to Characterize the Safety, Tolerability, Pharmacokinetics, and Maximum Tolerated Dose of Oral BAY 1217389 in Combination With Weekly Intravenous Paclitaxel Given in an Intermittent Dosing Schedule in Subjects With Advanced Malignancies Completed NCT02366949 Phase 1 BAY1217389;Paclitaxel
49 An Open Label, Dose Escalation, Safety, and Pharmacokinetic Study of CFI-402257 Administered Orally to Patients With Advanced Solid Tumors Recruiting NCT02792465 Phase 1 CFI-402257
50 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell

Search NIH Clinical Center for Scheie Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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
Bone, Bone Marrow, Brain, Heart, Spinal Cord, Eye, Skin
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 682)
# Title Authors PMID Year
1
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 54 61 24 56
8664897 1996
2
Structure and sequence of the human alpha-L-iduronidase gene. 61 54 6 24
1505961 1992
3
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. 6 61 54 24
1550122 1992
4
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 61 24 56
11735025 2001
5
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. 6 56
4112371 1972
6
The genetic mucopolysaccharidoses. 56 6
4221470 1965
7
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 61 6 54
7550232 1995
8
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. 56 54 61
2220820 1990
9
Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase). 61 24 54
19783188 2010
10
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. 61 54 24
19396826 2009
11
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. 54 61 24
18792977 2008
12
Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study. 54 24 61
15882450 2005
13
Laronidase treatment of mucopolysaccharidosis I. 24 54 61
15691212 2005
14
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. 61 54 24
15703491 2005
15
Mucopolysaccharidosis Type I 61 6
20301341 2002
16
Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). 56 61
10220555 1999
17
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. 54 61 24
9787109 1998
18
Mutations among Italian mucopolysaccharidosis type I patients. 61 24 54
9427149 1997
19
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. 61 54 24
8554071 1996
20
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 24 54 61
8680403 1995
21
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 61 56
7550242 1995
22
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. 6 61
8213840 1993
23
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele. 61 6
8318992 1993
24
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. 61 6
1301196 1992
25
Human alpha-L-iduronidase: cDNA isolation and expression. 24 54 61
1946389 1991
26
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities. 61 56
3121676 1988
27
Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients. 61 56
6421718 1984
28
Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I. 61 24
26484358 2015
29
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I. 24 61
26260077 2015
30
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. 24 61
25624320 2015
31
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 24 61
23786846 2013
32
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. 61 24
21394825 2011
33
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. 24 61
20532982 2010
34
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase. 61 24
20106688 2010
35
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. 61 24
20217237 2010
36
Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. 61 24
19955999 2009
37
Mucopolysaccharidosis I: management and treatment guidelines. 61 24
19117856 2009
38
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. 54 24
19117887 2009
39
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. 54 24
17011223 2007
40
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. 61 24
16762159 2006
41
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. 24 61
16188808 2005
42
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. 24 61
15128896 2004
43
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. 24 61
12865757 2003
44
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. 54 24
12747881 2003
45
Enzyme-replacement therapy in mucopolysaccharidosis I. 54 24
11172140 2001
46
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. 24 61
9391892 1997
47
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. 61 24
9068295 1997
48
The mucopolysaccharidoses: a clinical review and guide to management. 56
7741581 1995
49
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. 61 24
7951228 1994
50
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). 6
8477267 1993

Variations for Scheie Syndrome

ClinVar genetic disease variations for Scheie Syndrome:

6 (show top 50) (show all 191) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IDUA NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)SNV Uncertain significance, other 426817 rs183347428 4:995544-995544 4:1001756-1001756
2 IDUA NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)SNV Benign/Likely benign, other 195038 rs58037052 4:981673-981673 4:987885-987885
3 IDUA NM_000203.5(IDUA):c.965T>A (p.Val322Glu)SNV Benign/Likely benign, other 222992 rs76722191 4:995942-995942 4:1002154-1002154
4 IDUA NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)SNV Pathogenic 222997 rs764196171 4:996113-996113 4:1002325-1002325
5 IDUA NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)SNV Pathogenic 222993 rs758452450 4:981661-981661 4:987873-987873
6 IDUA NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)SNV Pathogenic 193061 rs794726877 4:981024-981024 4:987236-987236
7 IDUA NM_000203.5(IDUA):c.386-2A>GSNV Pathogenic 222994 rs777295041 4:994668-994668 4:1000880-1000880
8 IDUA NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)SNV Pathogenic 222995 rs869025584 4:995530-995530 4:1001742-1001742
9 IDUA NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)SNV Pathogenic 280976 rs121965031 4:998074-998074 4:1004286-1004286
10 IDUA NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)SNV Pathogenic 552095 rs1340421020 4:996540-996540 4:1002752-1002752
11 IDUA NM_000203.5(IDUA):c.1402+2T>GSNV Pathogenic 553131 rs1553917428 4:996734-996734 4:1002946-1002946
12 IDUA NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)SNV Pathogenic 580286 rs754966840 4:981703-981703 4:987915-987915
13 IDUA NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)duplication Pathogenic 638820 4:981607-981608 4:987819-987820
14 IDUA NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)SNV Pathogenic 655054 4:981616-981616 4:987828-987828
15 IDUA NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)SNV Pathogenic 651168 4:996877-996877 4:1003089-1003089
16 IDUA NM_000203.5(IDUA):c.2T>C (p.Met1Thr)SNV Pathogenic 639529 4:980874-980874 4:987086-987086
17 IDUA NM_000203.5(IDUA):c.164dup (p.Leu56fs)duplication Pathogenic 855487 4:981596-981597 4:987808-987809
18 IDUA NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)SNV Pathogenic 853816 4:995492-995492 4:1001704-1001704
19 IDUA NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)SNV Pathogenic 855322 4:995913-995913 4:1002125-1002125
20 IDUA NM_000203.5(IDUA):c.1395dup (p.Gly466fs)duplication Pathogenic 845547 4:996719-996720 4:1002931-1002932
21 IDUA NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)deletion Pathogenic 860010 4:997164-997173 4:1003376-1003385
22 IDUA NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)deletion Pathogenic 862097 4:997376-997386 4:1003588-1003598
23 IDUA NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)SNV Pathogenic 846228 4:997822-997822 4:1004034-1004034
24 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)SNV Pathogenic 11908 rs121965019 4:996535-996535 4:1002747-1002747
25 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)SNV Pathogenic 11909 rs121965020 4:981646-981646 4:987858-987858
26 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)SNV Pathogenic 11910 rs121965021 4:997206-997206 4:1003418-1003418
27 IDUA NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)SNV Pathogenic 11917 rs121965025 4:998080-998080 4:1004292-1004292
28 IDUA NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)SNV Pathogenic 11918 rs121965026 4:996896-996896 4:1003108-1003108
29 IDUA NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)SNV Pathogenic 11920 rs387906504 4:998179-998179 4:1004391-1004391
30 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)duplication Pathogenic 11921 rs786200915 4:995488-995489 4:1001700-1001701
31 IDUA NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)SNV Pathogenic 11922 rs121965029 4:981704-981704 4:987916-987916
32 IDUA NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)SNV Pathogenic 11925 rs121965032 4:996175-996175 4:1002387-1002387
33 IDUA NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)deletion Pathogenic 92636 rs398123258 4:997871-997871 4:1004083-1004083
34 IDUA NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)deletion Pathogenic 92643 rs398123260 4:980907-980918 4:987119-987130
35 IDUA NM_000203.5(IDUA):c.1727+1G>ASNV Pathogenic/Likely pathogenic 638077 4:997414-997414 4:1003626-1003626
36 IDUA NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)SNV Pathogenic/Likely pathogenic 638075 4:996129-996129 4:1002341-1002341
37 IDUA NM_000203.5(IDUA):c.793-1G>ASNV Pathogenic/Likely pathogenic 557472 rs762779421 4:995769-995769 4:1001981-1001981
38 IDUA NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)duplication Pathogenic/Likely pathogenic 554471 rs761793564 4:996842-996843 4:1003054-1003055
39 IDUA NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)duplication Pathogenic/Likely pathogenic 550382 rs779762183 4:995851-995852 4:1002063-1002064
40 IDUA NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)SNV Pathogenic/Likely pathogenic 557870 rs746766617 4:996128-996128 4:1002340-1002340
41 IDUA NM_000203.5(IDUA):c.876del (p.Asp292fs)deletion Pathogenic/Likely pathogenic 456720 rs1553917209 4:995853-995853 4:1002065-1002065
42 IDUA NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)SNV Pathogenic/Likely pathogenic 496861 rs772416503 4:996908-996908 4:1003120-1003120
43 IDUA NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)SNV Pathogenic/Likely pathogenic 265418 rs148789453 4:995590-995590 4:1001802-1001802
44 IDUA NM_000203.5(IDUA):c.590-7G>ASNV Pathogenic/Likely pathogenic 222996 rs762411583 4:995460-995460 4:1001672-1001672
45 IDUA NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)SNV Pathogenic/Likely pathogenic 167190 rs199801029 4:996063-996063 4:1002275-1002275
46 IDUA NM_000203.5(IDUA):c.1893del (p.Phe632fs)deletion Likely pathogenic 495733 rs1553917754 4:998109-998109 4:1004321-1004321
47 IDUA NM_000203.5(IDUA):c.158+1G>ASNV Likely pathogenic 526835 rs1264013707 4:981031-981031 4:987243-987243
48 IDUA NM_000203.5(IDUA):c.1829-1G>ASNV Likely pathogenic 552823 rs745915863 4:998047-998047 4:1004259-1004259
49 IDUA NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)SNV Likely pathogenic 638074 4:995770-995770 4:1001982-1001982
50 IDUA NM_000203.5(IDUA):c.1403-1G>TSNV Likely pathogenic 652306 4:996823-996823 4:1003035-1003035

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

73 (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
13.83 NPC2 IGF2R HGSNAT GUSB GNS GLB1
2
Show member pathways
13.74 SUMF1 SGSH NPC2 NAGLU IDUA IDS
3
Show member pathways
12.76 SGSH NAGLU IDUA IDS GUSB GNS
4
Show member pathways
12.42 SGSH NAGLU IDUA IDS GUSB GLB1
5
Show member pathways
12.2 SUMF1 GLB1 GLA GBA ARSH ARSB
6
Show member pathways
11.77 SUMF1 ARSH ARSB ARSA
7 11.68 SUMF1 SGSH NPC2 NAGLU IGF2R IDUA
8
Show member pathways
10.96 SGSH NAGLU IDUA IDS HGSNAT GUSB
9 10.88 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 10.16 SGSH NPC2 NAGLU IGF2R IDUA GUSB
2 extracellular region GO:0005576 10.1 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 9.8 SGSH NPC2 NAGLU IDUA IDS GUSB
5 endoplasmic reticulum lumen GO:0005788 9.77 SUMF1 FUCA2 ARSH ARSB ARSA
6 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
7 lysosome GO:0005764 9.55 SGSH NPC2 NAGLU IGF2R IDUA IDS

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.85 IDUA GUSB GLB1 GLA FUCA2 FUCA1
2 metabolic process GO:0008152 9.76 NAGLU IDUA GUSB GLB1 GLA GBA
3 neutrophil degranulation GO:0043312 9.73 NPC2 IGF2R HGSNAT GUSB GNS GLB1
4 response to estrogen GO:0043627 9.7 GBA ARSB ARSA
5 lysosome organization GO:0007040 9.67 NAGLU GBA ARSB
6 lysosomal transport GO:0007041 9.65 IGF2R HGSNAT ARSB
7 glycosphingolipid metabolic process GO:0006687 9.65 SUMF1 GLB1 GLA GBA ARSA
8 chondroitin sulfate catabolic process GO:0030207 9.63 IDUA IDS ARSB
9 keratan sulfate catabolic process GO:0042340 9.61 GNS GLB1 GALNS
10 response to pH GO:0009268 9.58 GBA ARSB ARSA
11 glycosaminoglycan metabolic process GO:0030203 9.55 SGSH GNS
12 response to methylmercury GO:0051597 9.54 ARSB ARSA
13 fucose metabolic process GO:0006004 9.51 FUCA2 FUCA1
14 glycoside catabolic process GO:0016139 9.5 GLA FUCA2 FUCA1
15 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 9.92 SGSH IDS GNS GLA GALNS ARSH
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.67 IDUA GUSB GLB1 GLA
4 arylsulfatase activity GO:0004065 9.56 GALNS ARSH ARSB ARSA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.56 NAGLU IDUA GUSB GLB1 GLA GBA
6 mannose binding GO:0005537 9.49 IGF2R BSG
7 galactoside binding GO:0016936 9.48 GLB1 GLA
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.46 SGSH GNS
9 alpha-L-fucosidase activity GO:0004560 9.43 FUCA2 FUCA1
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
11 sulfuric ester hydrolase activity GO:0008484 9.17 SGSH IDS GNS GALNS ARSH ARSB

Sources for Scheie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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