MPS1S
MCID: SCH036
MIFTS: 67

Scheie Syndrome (MPS1S)

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

Aliases & Classifications for Scheie Syndrome

MalaCards integrated aliases for Scheie Syndrome:

Name: Scheie Syndrome 58 12 77 54 26 60 76 15 39
Mucopolysaccharidosis Type I 25 54 26 60 38 30 56 6
Mucopolysaccharidosis I 39 12 26 45 15 74
Alpha-L-Iduronidase Deficiency 25 54 60 76 74
Mucopolysaccharidosis Type is 58 12 54 60 76
Hurler-Scheie Syndrome 12 54 26 74
Mucopolysaccharidosis Type 1s 12 54 60
Mucopolysaccharidosis Type V 12 77 76
Mucopolysaccharidosis is 58 54 13
Hurler Syndrome 12 54 26
Idua Deficiency 25 54 26
Mps I 25 54 26
Mps1s 54 60 76
Mucopolysaccharidosis Type V, Formerly 58 54
Mps V, Formerly 58 54
Mps5, Formerly 58 54
Mps1-S 58 54
Mpsis 54 60
Scheie Syndrome Formerly Known As Mucopoly-Saccharidosis Type V) 54
Mucopolysaccharidosis Type is; Mps1-S 58
Mps V, Formerly; Mps5, Formerly 58
Iduronidase Deficiency Disease 12
Mucopolysaccharidosis, Type 1 12
Mucopolysaccharidosis, Type I 41
Mucopolysaccharidosis, Mps-I 12
Mucopolysaccharidosis Type 1 60
Pfaundler-Hurler Syndrome 74
Mucopolysaccharidosis 1s 76
Mps I - Hurler Syndrome 12
Mucopolysaccharidosis V 74
Iduronidase, Alpha-L- 13
Lipochondrodystrophy 12
Syndrome, Scheie ) 41
Attenuated Mps I 54
Severe Mps I 54
Mps I H-S 26
Mps I H 26
Mps I S 26
Mps is 76
Mps-is 76
Mps 1 54
Mps V 76
Mpsi 60
Mps1 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
scheie syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Scheie Syndrome

NIH Rare Diseases : 54 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.

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

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

Genetics Home Reference : 26 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

OMIM : 58 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972). (607016)

UniProtKB/Swiss-Prot : 76 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 : 77 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 87)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis-plus syndrome 29.9 ARSH GALNS IDUA NAGLU
2 mucopolysaccharidosis iii 29.7 ARSH NAGLU
3 mucopolysaccharidosis, type vi 29.5 ARSH GAA GALNS
4 hurler-scheie syndrome 12.7
5 hurler syndrome 11.4
6 malignant migrating partial seizures of infancy 11.3
7 epileptic encephalopathy, early infantile, 6 11.2
8 gm1-gangliosidosis, type i 11.1
9 mucolipidosis iii alpha/beta 11.1
10 hematopoietic stem cell transplantation 10.5
11 metachromatic leukodystrophy 10.2
12 leukodystrophy 10.2
13 melanoma 10.2
14 adrenoleukodystrophy 10.2
15 mucopolysaccharidosis, type vii 10.2 GALNS IDUA
16 glioblastoma 10.1
17 arteries, anomalies of 10.1
18 coronary artery anomaly 10.1
19 fucosidosis 10.1 GAA NAGLU
20 mucopolysaccharidosis, type iva 10.1 ARSH GALNS
21 mucopolysaccharidosis iv 10.1 ARSH GALNS
22 mucopolysaccharidosis, type iiia 10.1 ARSH NAGLU
23 sleep apnea 10.0
24 breast cancer 10.0
25 colorectal cancer 10.0
26 medulloblastoma 10.0
27 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
28 polyarteritis nodosa, childhood-onset 10.0
29 pancreatic ductal adenocarcinoma 10.0
30 thyroid cancer 10.0
31 adenocarcinoma 10.0
32 benign childhood occipital epilepsy, gastaut type 10.0
33 carpal tunnel syndrome 9.9
34 pseudopapilledema 9.9
35 trigger thumb 9.9
36 macular dystrophy, corneal 9.9
37 stroke, ischemic 9.9
38 mononeuropathy of the median nerve, mild 9.9
39 arthritis 9.9
40 craniosynostosis 9.9
41 joint disorders 9.9
42 gaucher's disease 9.9
43 corneal dystrophy 9.9
44 arthropathy 9.9
45 myopathy 9.9
46 macular retinal edema 9.9
47 colobomatous microphthalmia 9.9
48 mucolipidosis iv 9.9 GALNS HHEX
49 mucopolysaccharidoses 9.9 ARSH IDUA NAGLU
50 multiple sulfatase deficiency 9.9 ARSH GALNS

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:

60 33 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
3 inguinal hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000023
4 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000280
5 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
6 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001744
7 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
8 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001387
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 mucopolysacchariduria 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008155
11 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
12 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
13 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
14 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
15 glaucoma 60 33 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000501
16 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
17 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
18 cerebral palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100021
19 aortic regurgitation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001659
20 abnormal nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0040129
21 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
22 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
23 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
24 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
25 widely spaced teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000687
26 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
27 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
28 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
29 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
30 thick vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0012471
31 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000407
32 retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0000488
33 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
34 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
35 thick lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000179
36 thick nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0009928
37 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
38 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000232
39 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
40 abnormal nasal morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005105
41 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272
42 enlarged thorax 60 33 frequent (33%) Frequent (79-30%) HP:0100625
43 apnea 60 33 frequent (33%) Frequent (79-30%) HP:0002104
44 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
45 abnormality of the tonsils 60 33 frequent (33%) Frequent (79-30%) HP:0100765
46 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
47 cough 60 33 frequent (33%) Frequent (79-30%) HP:0012735
48 joint dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001373
49 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
50 aseptic necrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0010885

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Head And Neck Face:
full cheeks
broad face
mandibular prognathism

Respiratory:
obstructive sleep apnea

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

Skeletal Hands:
carpal tunnel syndrome
claw-hand deformity

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

Skeletal:
dysostosis multiplex, mild (in some patients)

Skeletal Limbs:
genu valgum

Skeletal Feet:
pes cavus

Cardiovascular Heart:
aortic regurgitation
aortic stenosis
abnormal mitral valve

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

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

Respiratory Airways:
obstructive airway disease

Skeletal Spine:
lumbar-sacral spondylolisthesis

Clinical features from OMIM:

607016

UMLS symptoms related to Scheie Syndrome:


joint stiffness, thick skin

MGI Mouse Phenotypes related to Scheie Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 GAA GALNS GLA HHEX IDUA IGF2R
2 cardiovascular system MP:0005385 10.02 GAA GLA HHEX IDUA IGF2R NAGLU
3 growth/size/body region MP:0005378 9.95 GAA GLA HHEX IDUA IGF2R NAGLU
4 homeostasis/metabolism MP:0005376 9.91 GAA GALNS GLA HHEX IDUA IGF2R
5 craniofacial MP:0005382 9.83 HHEX IDUA IGF2R NAGLU UBR5
6 nervous system MP:0003631 9.73 GLA HHEX IDUA IGF2R NAGLU UBR5
7 liver/biliary system MP:0005370 9.72 GLA HHEX IDUA IGF2R NAGLU
8 renal/urinary system MP:0005367 9.55 GALNS GLA IDUA IGF2R NAGLU
9 skeleton MP:0005390 9.35 GAA GALNS IDUA IGF2R NAGLU
10 vision/eye MP:0005391 9.02 GALNS GLA HHEX IDUA NAGLU

Drugs & Therapeutics for Scheie Syndrome

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4,Phase 1,Phase 2
2 Antibodies Phase 4,Phase 1,Phase 2
3 Immunologic Factors Phase 4,Phase 1,Phase 2
4 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
6 Hormone Antagonists Phase 2, Phase 3,Not Applicable
7 Hormones Phase 2, Phase 3,Not Applicable
8
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
9
Adalimumab Approved Phase 1, Phase 2,Phase 2 331731-18-1 16219006
10
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
11
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
12
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
13
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
14
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
15
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
16
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
17
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
18
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
19
Melphalan Approved Phase 2 148-82-3 460612 4053
20
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
24
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
25
rituximab Approved Phase 2 174722-31-7 10201696
26
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
27
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
28
tannic acid Approved Phase 2 1401-55-4
29
Mesna Approved, Investigational Phase 2 3375-50-6 598
30
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
33 Tocotrienol Investigational Phase 2 6829-55-6
34 Insulin, Globin Zinc Phase 1, Phase 2,Phase 2
35 insulin Phase 1, Phase 2,Phase 2
36 Antibodies, Monoclonal Phase 1, Phase 2,Phase 2
37 Hypoglycemic Agents Phase 1, Phase 2
38 Antineoplastic Agents, Immunological Phase 2,Phase 1
39 Anti-Inflammatory Agents Phase 1, Phase 2,Phase 2
40 Antirheumatic Agents Phase 1, Phase 2,Phase 2
41 Antimetabolites Phase 1, Phase 2,Phase 2
42 Anti-Infective Agents Phase 1, Phase 2,Phase 2
43 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
44 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
45 Cyclosporins Phase 1, Phase 2,Phase 2
46 Antifungal Agents Phase 1, Phase 2,Phase 2
47 Dermatologic Agents Phase 1, Phase 2,Phase 2
48 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
49 Alkylating Agents Phase 2,Phase 1
50 Thymoglobulin Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
2 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
3 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
4 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
5 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
6 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
7 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
8 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
9 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
10 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
11 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
12 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Completed NCT03071341 Phase 1, Phase 2 AGT-181
13 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Completed NCT03053089 Phase 1, Phase 2 AGT-181
14 Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant Recruiting NCT03488394 Phase 1, Phase 2
15 Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and II Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
16 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
17 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2 Laronidase ERT
18 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
19 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
20 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
21 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
22 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis 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)
23 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
24 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
25 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
26 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Unknown status NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
27 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Unknown status NCT01173016 Phase 1 Laronidase
28 Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 Completed NCT02597114 Phase 1 AGT-181
29 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1 laronidase
30 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
31 RGX-111 Gene Therapy in Patients With MPS I Recruiting NCT03580083 Phase 1
32 Intrathecal Enzyme Replacement for Hurler Syndrome Completed NCT00638547 Phase 1 IRT Laronidase
33 Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I Terminated NCT00215527 Phase 1 laronidase
34 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
35 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
36 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
37 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
38 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
39 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 Not Applicable laronidase
40 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
41 MRS to Determine Neuroinflammation and Oxidative Stress in MPS I Not yet recruiting NCT03576729
42 Biomarker for Hurler Disease: BioHurler Recruiting NCT02298712
43 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015
44 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Completed NCT03161171
45 Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I Enrolling by invitation NCT02232477 Not Applicable Intrathecal recombinant human alpha iduronidase
46 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
47 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
48 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
49 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Terminated NCT01572636 Laronidase
50 Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis Completed NCT02067650

Search NIH Clinical Center for Scheie Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: mucopolysaccharidosis i

Genetic Tests for Scheie Syndrome

Genetic tests related to Scheie Syndrome:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I 30

Anatomical Context for Scheie Syndrome

MalaCards organs/tissues related to Scheie Syndrome:

42
Bone, Bone Marrow, Skin, Brain, Eye, Spinal Cord, Tonsil
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Scheie Syndrome

Articles related to Scheie Syndrome:

(show top 50) (show all 122)
# Title Authors Year
1
Deep Anterior Lamellar Keratoplasty in a Case of Hurler-Scheie Syndrome Undergoing Enzyme Replacement Therapy. ( 30575621 )
2019
2
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. ( 29654546 )
2019
3
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. ( 30658664 )
2019
4
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States. ( 30777108 )
2019
5
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. ( 30849633 )
2019
6
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12A Years. ( 29705972 )
2018
7
Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis. ( 29791186 )
2018
8
Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family. ( 30511553 )
2018
9
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207 )
2018
10
Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I. ( 28695759 )
2018
11
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I. ( 29159202 )
2018
12
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I. ( 29239447 )
2018
13
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler). ( 29240299 )
2018
14
Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. ( 29273385 )
2018
15
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. ( 29282708 )
2018
16
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases. ( 29336994 )
2018
17
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I. ( 29442294 )
2018
18
Stand-alone craniocervical decompression is feasible in children with mucopolysaccharidosis type I, IVA, and VI. ( 29649608 )
2018
19
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. ( 29797470 )
2018
20
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. ( 29906569 )
2018
21
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. ( 30242902 )
2018
22
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy. ( 30259180 )
2018
23
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights. ( 30419879 )
2018
24
A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome. ( 29600206 )
2017
25
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology. ( 27743312 )
2017
26
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity. ( 28104572 )
2017
27
Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment. ( 28150116 )
2017
28
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease. ( 28595620 )
2017
29
Open issues in Mucopolysaccharidosis type I-Hurler. ( 28619065 )
2017
30
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis. ( 28676128 )
2017
31
Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation. ( 28684085 )
2017
32
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. ( 28752568 )
2017
33
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis. ( 28859139 )
2017
34
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study. ( 28944140 )
2017
35
Clinical features of Mexican patients with Mucopolysaccharidosis type I. ( 28973713 )
2017
36
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling. ( 28982054 )
2017
37
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. ( 26935461 )
2016
38
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice. ( 26235607 )
2016
39
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres. ( 26832957 )
2016
40
Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I. ( 27033167 )
2016
41
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I. ( 27788836 )
2016
42
Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6A years of enzyme replacement therapy: Implications for early diagnosis and therapy. ( 28649551 )
2015
43
Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome. ( 26546621 )
2015
44
Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I. ( 26602600 )
2015
45
Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I. ( 25646802 )
2015
46
A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I. ( 26052536 )
2015
47
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 25467058 )
2015
48
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. ( 25599668 )
2015
49
Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man. ( 25009127 )
2014
50
Deep anterior lamellar keratoplasty in case of Hurler-Scheie syndrome. ( 24706723 )
2014

Variations for Scheie Syndrome

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

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

ClinVar genetic disease variations for Scheie Syndrome:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID Assembly Location
1 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh37 Chromosome 4, 996063: 996063
2 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh38 Chromosome 4, 1002275: 1002275
3 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh37 Chromosome 4, 981024: 981024
4 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh38 Chromosome 4, 987236: 987236
5 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic/Likely pathogenic rs794726878 GRCh37 Chromosome 4, 980925: 980925
6 IDUA NM_000203.4(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic/Likely pathogenic rs794726878 GRCh38 Chromosome 4, 987137: 987137
7 IDUA NM_000203.4(IDUA): c.235G> A (p.Ala79Thr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs58037052 GRCh37 Chromosome 4, 981673: 981673
8 IDUA NM_000203.4(IDUA): c.235G> A (p.Ala79Thr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs58037052 GRCh38 Chromosome 4, 987885: 987885
9 IDUA NM_000203.5(IDUA): c.367G> A (p.Glu123Lys) single nucleotide variant Uncertain significance rs577729544 GRCh37 Chromosome 4, 994467: 994467
10 IDUA NM_000203.5(IDUA): c.367G> A (p.Glu123Lys) single nucleotide variant Uncertain significance rs577729544 GRCh38 Chromosome 4, 1000679: 1000679
11 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs794727896 GRCh37 Chromosome 4, 996247: 996247
12 IDUA NM_000203.4(IDUA): c.1163C> A (p.Thr388Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs794727896 GRCh38 Chromosome 4, 1002459: 1002459
13 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
14 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh38 Chromosome 4, 1002747: 1002747
15 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
16 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh38 Chromosome 4, 987858: 987858
17 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
18 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh38 Chromosome 4, 1003418: 1003418
19 IDUA NM_000203.4(IDUA): c.1225G> C (p.Gly409Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11934801 GRCh37 Chromosome 4, 996555: 996555
20 IDUA NM_000203.4(IDUA): c.1225G> C (p.Gly409Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11934801 GRCh38 Chromosome 4, 1002767: 1002767
21 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh37 Chromosome 4, 996896: 996896
22 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh38 Chromosome 4, 1003108: 1003108
23 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh37 Chromosome 4, 998179: 998179
24 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh38 Chromosome 4, 1004391: 1004391
25 IDUA NM_000203.5(IDUA): c.613_617dup (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh38 Chromosome 4, 1001702: 1001706
26 IDUA NM_000203.5(IDUA): c.613_617dup (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
27 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
28 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh38 Chromosome 4, 987916: 987916
29 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh37 Chromosome 4, 996175: 996175
30 IDUA NM_000203.4(IDUA): c.1091C> T (p.Thr364Met) single nucleotide variant Pathogenic rs121965032 GRCh38 Chromosome 4, 1002387: 1002387
31 IDUA NM_000203.4(IDUA): c.1081G> A (p.Ala361Thr) single nucleotide variant Benign rs6831280 GRCh37 Chromosome 4, 996165: 996165
32 IDUA NM_000203.4(IDUA): c.1081G> A (p.Ala361Thr) single nucleotide variant Benign rs6831280 GRCh38 Chromosome 4, 1002377: 1002377
33 IDUA NM_000203.4(IDUA): c.1164G> C (p.Thr388=) single nucleotide variant Benign rs6836258 GRCh37 Chromosome 4, 996248: 996248
34 IDUA NM_000203.4(IDUA): c.1164G> C (p.Thr388=) single nucleotide variant Benign rs6836258 GRCh38 Chromosome 4, 1002460: 1002460
35 IDUA NM_000203.4(IDUA): c.1230C> G (p.Thr410=) single nucleotide variant Benign rs115790973 GRCh37 Chromosome 4, 996560: 996560
36 IDUA NM_000203.4(IDUA): c.1230C> G (p.Thr410=) single nucleotide variant Benign rs115790973 GRCh38 Chromosome 4, 1002772: 1002772
37 IDUA NM_000203.4(IDUA): c.1360G> A (p.Val454Ile) single nucleotide variant Benign rs73066479 GRCh37 Chromosome 4, 996690: 996690
38 IDUA NM_000203.4(IDUA): c.1360G> A (p.Val454Ile) single nucleotide variant Benign rs73066479 GRCh38 Chromosome 4, 1002902: 1002902
39 IDUA NM_000203.4(IDUA): c.1467C> T (p.Arg489=) single nucleotide variant Benign rs115929690 GRCh37 Chromosome 4, 996888: 996888
40 IDUA NM_000203.4(IDUA): c.1467C> T (p.Arg489=) single nucleotide variant Benign rs115929690 GRCh38 Chromosome 4, 1003100: 1003100
41 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh37 Chromosome 4, 997871: 997871
42 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh38 Chromosome 4, 1004083: 1004083
43 IDUA NM_000203.4(IDUA): c.246C> G (p.His82Gln) single nucleotide variant Benign/Likely benign, other rs148775298 GRCh37 Chromosome 4, 981684: 981684
44 IDUA NM_000203.4(IDUA): c.246C> G (p.His82Gln) single nucleotide variant Benign/Likely benign, other rs148775298 GRCh38 Chromosome 4, 987896: 987896
45 IDUA NM_000203.4(IDUA): c.24C> A (p.Ala8=) single nucleotide variant Benign rs11248061 GRCh37 Chromosome 4, 980896: 980896
46 IDUA NM_000203.4(IDUA): c.24C> A (p.Ala8=) single nucleotide variant Benign rs11248061 GRCh38 Chromosome 4, 987108: 987108
47 IDUA NM_000203.4(IDUA): c.299+6C> T single nucleotide variant Benign/Likely benign rs147498923 GRCh37 Chromosome 4, 981743: 981743
48 IDUA NM_000203.4(IDUA): c.299+6C> T single nucleotide variant Benign/Likely benign rs147498923 GRCh38 Chromosome 4, 987955: 987955
49 IDUA NM_000203.4(IDUA): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs3755955 GRCh37 Chromosome 4, 994414: 994414
50 IDUA NM_000203.4(IDUA): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs3755955 GRCh38 Chromosome 4, 1000626: 1000626

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:

38
# 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 11.19 GAA GALNS GLA IDUA IGF2R NAGLU
2
Show member pathways
10.43 GALNS IDUA NAGLU

GO Terms for Scheie Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 GAA GALNS GLA IDUA IGF2R NAGLU
2 lysosome GO:0005764 9.43 GAA GALNS GLA IDUA IGF2R NAGLU
3 azurophil granule lumen GO:0035578 9.26 GALNS GLA
4 lysosomal lumen GO:0043202 9.02 GAA GALNS GLA IDUA NAGLU

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.43 GAA GLA IDUA
2 lysosome organization GO:0007040 9.32 GAA NAGLU
3 neutrophil degranulation GO:0043312 9.26 GAA GALNS GLA IGF2R
4 glycosaminoglycan catabolic process GO:0006027 9.16 IDUA NAGLU
5 metabolic process GO:0008152 8.92 GAA GLA IDUA NAGLU

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.63 ARSH GAA GALNS GLA IDUA NAGLU
2 sulfuric ester hydrolase activity GO:0008484 9.26 ARSH GALNS
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GAA GLA IDUA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 GAA GLA IDUA NAGLU

Sources for Scheie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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