MPS1S
MCID: SCH036
MIFTS: 75

Scheie Syndrome (MPS1S)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Scheie Syndrome

MalaCards integrated aliases for Scheie Syndrome:

Name: Scheie Syndrome 57 11 19 42 58 75 73 14 36 38
Alpha-L-Iduronidase Deficiency 24 19 58 73 71 33
Mucopolysaccharidosis Type is 57 11 19 58 73 5
Mucopolysaccharidosis Type I 24 19 42 58 53
Mucopolysaccharidosis Type 1 58 28 5 33
Mucopolysaccharidosis I 11 42 14 71
Hurler-Scheie Syndrome 11 19 42 71
Mucopolysaccharidosis Type 1s 11 19 58
Mucopolysaccharidosis Type V 11 75 73
Mucopolysaccharidosis is 57 19 12
Hurler Syndrome 11 19 42
Idua Deficiency 24 19 42
Mps I 24 19 42
Mps1s 19 58 73
Mucopolysaccharidosis Type V, Formerly 57 19
Mucopolysaccharidosis, Type I 38 31
Lipochondrodystrophy 11 33
Mps V, Formerly 57 19
Mps5, Formerly 57 19
Mps1-S 57 19
Mpsis 19 58
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) 19
Mps1 - [mucopolysaccharidosis Type 1] 33
Iduronidase Deficiency Disease 11
Dysostosis Multiplex Syndrome 33
Mucopolysaccharidosis, Type 1 11
Mucopolysaccharidosis, Mps-I 11
Pfaundler-Hurler Syndrome 71
Mucopolysaccharidosis 1s 73
L-Iduronidase Deficiency 33
Mps I - Hurler Syndrome 11
Mucopolysaccharidosis V 71
Dysostosis Multiplex 33
Attenuated Mps I 19
Severe Mps I 19
Gargoylism 33
Mps I H-S 42
Mps I H 42
Mps I S 42
Mps is 73
Mps-is 73
Mps 1 19
Mps V 73
Mpsi 58
Mps1 58

Characteristics:


Inheritance:

Scheie Syndrome: Autosomal recessive 58 57
Mucopolysaccharidosis Type 1: Autosomal recessive 58

Prevelance:

Scheie Syndrome: 1-9/1000000 (Canada) <1/1000000 (United Kingdom) 58
Mucopolysaccharidosis Type 1: 1-9/100000 (Europe, Portugal, Netherlands, Sweden, Norway, Denmark, Ireland, United Kingdom, Australia, Saudi Arabia, Israel, Specific population) 1-9/1000000 (Germany, Sweden, Denmark, Tunisia, Taiwan, Province of China, Canada, Czech Republic, Europe, Worldwide, Poland, Japan, Switzerland, Korea, Republic of, Brazil, United States) 1-5/10000 (Norway) 58

Age Of Onset:

Scheie Syndrome: Adolescent,Adult,Childhood 58
Mucopolysaccharidosis Type 1: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

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


Summaries for Scheie Syndrome

MedlinePlus Genetics: 42 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 alpha-l-iduronidase deficiency, is related to hurler-scheie syndrome and glycoproteinosis, 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 Innate Immune System and Metabolism. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include Bone, eye and bone marrow, and related phenotypes are scoliosis and coarse facial features

OMIM®: 57 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972). (607016) (Updated 08-Dec-2022)

GARD: 19 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. MPS I is caused by genetic changes in the IDUA gene. These genetic changes 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.

Orphanet 58 Scheie syndrome: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Mucopolysaccharidosis type 1: Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology 11 Scheie syndrome: A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.

Mucopolysaccharidosis i: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.

Wikipedia: 75 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 359)
# Related Disease Score Top Affiliating Genes
1 hurler-scheie syndrome 32.8 SUMF1 SLC26A1 SGSH NAGLU IDUA IDS
2 glycoproteinosis 32.1 GLB1 FUCA1 CTSA CLN3 ARSB
3 mucolipidosis ii alpha/beta 32.1 M6PR IGF2R IDUA GUSB FUCA1
4 gm1-gangliosidosis, type i 32.0 GLB1 GALC
5 fucosidosis 32.0 SGSH NAGLU IDUA GLB1 GALNS FUCA1
6 galactosialidosis 31.9 NAGLU M6PR IGF2R IDUA GLB1 GALNS
7 multiple sulfatase deficiency 31.7 SUMF1 IDS GNS GALNS ARSB ARSA
8 mucolipidosis iii alpha/beta 31.6 NAGLU M6PR IGF2R GUSB FUCA1 ARSB
9 mannosidosis, alpha b, lysosomal 31.4 SGSH NAGLU IGF2R IDUA GUSB FUCA1
10 mucopolysaccharidosis, type vii 31.3 SGSH NAGLU M6PR IGF2R IDUA IDS
11 mucopolysaccharidoses 30.8 IDUA IDS GUSB GALNS ARSB
12 hurler syndrome 30.7 SUMF1 SLC26A1 SGSH NAGLU M6PR IGF2R
13 leukodystrophy 30.5 SUMF1 IDUA GALC ARSB ARSA
14 umbilical hernia 30.4 IDUA GALNS ARSB
15 osteochondrodysplasia 30.4 SLC26A1 IDUA GUSB GLB1 GALNS
16 glycogen storage disease ii 30.2 M6PR IGF2R IDUA CLN3
17 gingival hypertrophy 30.2 IDUA GLB1
18 gaucher disease, type i 30.2 IDUA GLA GALC
19 inguinal hernia 30.2 NAGLU IDUA IDS ARSB
20 fabry disease 30.0 M6PR GUSB GLA FUCA1 ARSA
21 ceroid lipofuscinosis, neuronal, 3 30.0 SGSH NAGLU M6PR IGF2R CLN3
22 krabbe disease 29.7 SGSH NAGLU M6PR IGF2R IDUA IDS
23 farber lipogranulomatosis 29.7 GLA GALC
24 tay-sachs disease 29.6 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
25 gm2 gangliosidosis 29.6 SGSH NAGLU IGF2R IDUA GLB1 GLA
26 metachromatic leukodystrophy 29.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
27 mucopolysaccharidosis-plus syndrome 29.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
28 mucolipidosis 29.4 NAGLU M6PR IGF2R IDUA GLB1 GALNS
29 gaucher's disease 29.4 NAGLU M6PR IGF2R IDUA IDS GUSB
30 gangliosidosis 29.4 SUMF1 SGSH NAGLU IGF2R IDUA GLB1
31 mucopolysaccharidosis, type iiib 29.1 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
32 mucopolysaccharidosis, type ii 29.1 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
33 neuronal ceroid lipofuscinosis 29.0 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
34 mucopolysaccharidosis, type iva 28.9 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
35 mucopolysaccharidosis iv 28.8 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
36 gm1 gangliosidosis 28.8 SUMF1 SGSH NAGLU IGF2R IDUA IDS
37 mucopolysaccharidosis, type ivb 28.8 SUMF1 SGSH NAGLU IGF2R IDUA IDS
38 mucopolysaccharidosis, type vi 28.8 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
39 mucopolysaccharidosis iii 28.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
40 lysosomal storage disease 28.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
41 mucopolysaccharidosis, type iiia 28.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
42 dysostosis multiplex, ain-naz type 11.6
43 mucolipidosis iii gamma 11.2
44 neuraminidase deficiency 11.2
45 dravet syndrome 11.0
46 graft-versus-host disease 10.4
47 mongolian spot 10.3 IDUA GLB1
48 polyposis syndrome, hereditary mixed, 1 10.3
49 charcot-marie-tooth disease, axonal, type 2v 10.3 NAGLU IGF2R
50 congenital disorder of glycosylation, type ib 10.3 IGF2R GLA

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 30 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002650
2 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000280
3 splenomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001744
4 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0007957
5 inguinal hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000023
6 chronic otitis media 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000389
7 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001387
8 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
9 mucopolysacchariduria 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0008155
10 sinusitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000246
11 abnormal form of the vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003312
12 glaucoma 58 30 Occasional (7.5%) Frequent (79-30%)
Very frequent (99-80%)
HP:0000501
13 abnormality of the voice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001608
14 split hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001171
15 generalized hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002230
16 cerebral palsy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100021
17 aortic regurgitation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001659
18 abnormal nerve conduction velocity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0040129
19 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
20 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
21 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
22 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
23 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002376
24 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
25 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
26 gingival overgrowth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000212
27 widely spaced teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000687
28 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
29 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
HP:0002024
30 thick vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0012471
31 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0000407
32 retinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000488
33 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
34 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000179
35 thick nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0009928
36 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000232
37 microdontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000691
38 enlarged thorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0100625
39 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002829
40 dolichocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000268
41 low anterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0000294
42 apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002104
43 paresthesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003401
44 cough 58 30 Frequent (33%) Frequent (79-30%)
HP:0012735
45 abnormality of the tonsils 58 30 Frequent (33%) Frequent (79-30%)
HP:0100765
46 abnormal hip bone morphology 30 Frequent (33%) HP:0003272
47 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
48 avascular necrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010885
49 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
50 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck

Skeletal Limbs:
genu valgum

Cardiovascular Heart:
aortic regurgitation
aortic stenosis
abnormal mitral valve

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

Skeletal Hands:
carpal tunnel syndrome
claw-hand deformity

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

Skeletal:
dysostosis multiplex, mild (in some patients)

Head And Neck Face:
full cheeks
broad face
mandibular prognathism

Skeletal Feet:
pes cavus

Respiratory:
obstructive sleep apnea

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

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

Respiratory Airways:
obstructive airway disease

Skeletal Spine:
lumbar-sacral spondylolisthesis

Clinical features from OMIM®:

607016 (Updated 08-Dec-2022)

UMLS symptoms related to Scheie Syndrome:


joint stiffness; thick skin

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

25 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.35 ARSA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.35 ARSA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.35 ARSB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.35 ARSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.35 GALNS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.35 ARSA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-117 10.35 SLC26A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.35 ARSB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.35 ARSB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.35 IDS IGF2R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.35 IGF2R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.35 SLC26A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.35 ARSA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.35 GALNS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.35 ARSA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.35 IDS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.35 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.35 ARSA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.35 SLC26A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.35 ARSA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.35 GALNS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.35 IDS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.35 IGF2R
24 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.35 GALNS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-27 10.35 ARSB
26 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.35 SLC26A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.35 SLC26A1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.35 ARSB SLC26A1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.35 IDS
30 Increased shRNA abundance (Z-score > 2) GR00366-A-48 10.35 IDS
31 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.35 IGF2R
32 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.35 SLC26A1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.35 SLC26A1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.35 ARSA
35 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.35 SLC26A1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.35 GALNS
37 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.35 GALNS
38 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.35 IDS GALNS SLC26A1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.35 IDS
40 no effect GR00402-S-1 10.13 ARSA ARSB CLN3 CTSA FUCA1 GALC
41 no effect GR00402-S-2 10.13 CLN3 CTSA FUCA1 GALC GLA GNS

MGI Mouse Phenotypes related to Scheie Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.49 ARSB CLN3 CTSA FUCA1 GALC GALNS
2 nervous system MP:0003631 10.47 ARSA ARSB CLN3 CTSA FUCA1 GALC
3 cellular MP:0005384 10.46 ARSA ARSB CLN3 CTSA FUCA1 GALC
4 homeostasis/metabolism MP:0005376 10.45 ARSA ARSB CLN3 CTSA FUCA1 GALC
5 liver/biliary system MP:0005370 10.36 CLN3 CTSA GALC GLA GLB1 HGSNAT
6 behavior/neurological MP:0005386 10.36 ARSA ARSB CLN3 CTSA FUCA1 GALC
7 growth/size/body region MP:0005378 10.34 ARSB CLN3 CTSA GALC GLA GLB1
8 limbs/digits/tail MP:0005371 10.24 ARSB CTSA GALC GUSB HGSNAT IDS
9 immune system MP:0005387 10.24 ARSA CLN3 CTSA GALC GLA GLB1
10 craniofacial MP:0005382 10.18 ARSB CTSA GALC GUSB IDS IDUA
11 cardiovascular system MP:0005385 10.17 ARSB CTSA GALC GLA HGSNAT IDUA
12 skeleton MP:0005390 10.07 ARSB GALC GALNS GLB1 GUSB HGSNAT
13 hearing/vestibular/ear MP:0005377 10.05 ARSA ARSB FUCA1 GUSB IDS IDUA
14 reproductive system MP:0005389 10.02 ARSA ARSB CLN3 CTSA GLB1 GUSB
15 vision/eye MP:0005391 9.93 ARSA ARSB CLN3 CTSA GALC GALNS
16 hematopoietic system MP:0005397 9.86 ARSA ARSB CLN3 CTSA GALC GLB1
17 mortality/aging MP:0010768 9.5 CLN3 CTSA GALC GLA GLB1 GNS

Drugs & Therapeutics for Scheie Syndrome

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
4
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
5
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
6
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
7
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
8
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
9
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
10
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
11
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
12
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
13
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
15
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1
16
Rituximab Approved Phase 2 174722-31-7
17
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
18
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
19
Tocopherol Approved, Investigational Phase 2 1406-66-2
20
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
21
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
22
Zinc cation Approved, Experimental, Investigational Phase 1, Phase 2 7440-66-6, 23713-49-7 32051
23
Busulfan Approved, Investigational Phase 2 55-98-1 2478
24
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
25
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
26
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
27
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1200-22-2 864 6112
28
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
29
Tocotrienol Investigational Phase 2 6829-55-6 9929901
30 Insulin, Globin Zinc Phase 1, Phase 2
31
Insulin Phase 1, Phase 2
32 Antibodies, Monoclonal Phase 1, Phase 2
33 Cyclosporins Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Calcineurin Inhibitors Phase 1, Phase 2
36 Antifungal Agents Phase 1, Phase 2
37 Antimetabolites Phase 1, Phase 2
38 Dermatologic Agents Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 2
40 Antitubercular Agents Phase 2
41 Antibiotics, Antitubercular Phase 2
42
Methylprednisolone Acetate Phase 2 584547
43 Pharmaceutical Solutions Phase 1, Phase 2
44 Anti-Inflammatory Agents Phase 1, Phase 2
45 Vitamins Phase 2
46 Alpha-lipoic Acid Phase 2
47 N-monoacetylcystine Phase 2
48 Tocotrienols Phase 2
49 Tocopherols Phase 2
50 Antilymphocyte Serum Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 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
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, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
4 A Phase 4, Single-arm, Open-label Safety and Efficacy Study of Aldurazyme® (Laronidase) as Enzyme Replacement Therapy in Participants With Mucopolysaccharidosis I (MPS I) in China Recruiting NCT05134571 Phase 4 Laronidase
5 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
6 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
7 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
8 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)
9 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
10 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
11 Phase I/II Study of JR-171 ㏌ Patients With Mucopolysaccharidosis Type I Completed NCT04227600 Phase 1, Phase 2 JR-171
12 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
13 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
14 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)
15 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
16 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
17 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
18 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
19 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
20 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II, and VI Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
21 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)
22 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
23 An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I Active, not recruiting NCT04453085 Phase 1, Phase 2 JR-171
24 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 Active, not recruiting NCT03488394 Phase 1, Phase 2
25 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 Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
26 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
27 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) Terminated NCT02702115 Phase 1, Phase 2
28 Sleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic Transplantation Withdrawn NCT04284254 Phase 1, Phase 2 Autologous Plasmablasts
29 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)
30 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
31 Intrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome) Completed NCT00638547 Phase 1 IRT Laronidase
32 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
33 Pilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler Syndrome Completed NCT01173016 Phase 1 Laronidase
34 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 Completed NCT01586455 Phase 1 Human Placental Derived Stem Cell
35 In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). Recruiting NCT04532047 Phase 1 Aldurazyme (laronidase)
36 An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00786968 Phase 1 laronidase
37 A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00215527 Phase 1 laronidase
38 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
39 A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Completed NCT00852358 laronidase
40 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
41 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
42 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
43 Magnetic Resonance Spectroscopy (MRS) to Determine Neuroinflammation and Oxidative Stress in MPS I Completed NCT03576729
44 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
45 Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis Completed NCT02067650
46 Longitudinal Study of Bone and Endocrine Disease in Children With MPS I, II, and VI: A Multicenter Study of the Lysosomal Disease Network. Completed NCT01521429
47 Multi-Centre, Non-Interventional, Double Cohort Study to Assess the Safety of Myozyme® and of Aldurazyme® in Real-World Home Infusion Setting Recruiting NCT05073783
48 Registry of Patients Diagnosed With Lysosomal Storage Diseases Recruiting NCT05619900
49 Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products at St. Jude Children's Research Hospital Recruiting NCT00695279
50 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794

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 28

Anatomical Context for Scheie Syndrome

Organs/tissues related to Scheie Syndrome:

MalaCards : Bone, Eye, Bone Marrow, Heart, Tongue, Liver, Spleen
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Scheie Syndrome

Articles related to Scheie Syndrome:

(show top 50) (show all 3771)
# Title Authors PMID Year
1
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 53 62 24 57 5
8664897 1996
2
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. 53 62 24 5
19396826 2009
3
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. 53 62 24 5
18792977 2008
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. 62 57 5
11735025 2001
5
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. 53 62 24 5
9787109 1998
6
Mutations among Italian mucopolysaccharidosis type I patients. 53 62 24 5
9427149 1997
7
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 62 57 5
7550242 1995
8
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. 53 62 24 5
1550122 1992
9
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. 62 24 5
31194252 2019
10
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay. 62 24 5
31319022 2019
11
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. 62 24 5
28752568 2017
12
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. 62 24 5
26825088 2016
13
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I. 62 24 5
27766162 2016
14
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I. 62 24 5
26260077 2015
15
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 62 24 5
23786846 2013
16
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. 62 24 5
21394825 2011
17
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. 62 24 5
16188808 2005
18
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. 62 24 5
9391892 1997
19
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. 62 24 5
7951228 1994
20
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. 62 24 5
8019563 1994
21
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. 57 5
4112371 1972
22
The genetic mucopolysaccharidoses. 57 5
4221470 1965
23
Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms. 53 62 5
19839758 2009
24
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). 53 62 5
17606547 2007
25
A homology model for human alpha-l-iduronidase: insights into human disease. 53 62 5
15862278 2005
26
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. 53 62 5
16435195 2005
27
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. 53 62 5
15300847 2004
28
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. 53 62 5
15081804 2004
29
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation. 53 62 5
14559116 2003
30
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene. 53 62 5
12509712 2002
31
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. 53 62 5
12189649 2002
32
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 53 62 5
10466419 1999
33
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 53 62 5
8680403 1995
34
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 53 62 5
7550232 1995
35
Structure and sequence of the human alpha-L-iduronidase gene. 53 62 5
1505961 1992
36
Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein. 53 62 5
1627351 1992
37
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. 53 62 57
2220820 1990
38
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. 62 5
34148116 2022
39
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT). 62 5
33517895 2021
40
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations. 62 5
33098355 2021
41
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I. 62 5
32432561 2020
42
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing. 62 5
32670797 2020
43
Mucopolysaccharidosis Type I. 62 5
32188113 2020
44
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. 62 5
31758674 2020
45
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. 62 5
31298590 2019
46
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings. 62 5
30755342 2019
47
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. 62 5
30093709 2019
48
Newborn screening in mucopolysaccharidoses. 62 5
30442156 2018
49
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. 62 5
30083803 2018
50
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. 62 5
29906569 2018

Variations for Scheie Syndrome

ClinVar genetic disease variations for Scheie Syndrome:

5 (show top 50) (show all 814)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDUA, SLC26A1 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) SNV Benign; Other
195038 rs58037052 GRCh37: 4:981673-981673
GRCh38: 4:987885-987885
2 IDUA, SLC26A1 NM_000203.5(IDUA):c.246C>G (p.His82Gln) SNV Uncertain Significance; Other
92637 rs148775298 GRCh37: 4:981684-981684
GRCh38: 4:987896-987896
3 IDUA NM_000203.5(IDUA):c.965T>A (p.Val322Glu) SNV Benign; Other
222992 rs76722191 GRCh37: 4:995942-995942
GRCh38: 4:1002154-1002154
4 IDUA NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) SNV Other
426817 rs183347428 GRCh37: 4:995544-995544
GRCh38: 4:1001756-1001756
5 IDUA, SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic
Pathogenic
Pathogenic
11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
6 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic
Pathogenic
11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
7 IDUA, SLC26A1 NM_000203.5(IDUA):c.2T>C (p.Met1Thr) SNV Pathogenic
639529 rs753767675 GRCh37: 4:980874-980874
GRCh38: 4:987086-987086
8 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic
Pathogenic
11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
9 IDUA NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) SNV Pathogenic
853816 rs1715086654 GRCh37: 4:995492-995492
GRCh38: 4:1001704-1001704
10 IDUA NM_000203.5(IDUA):c.719A>G (p.His240Arg) SNV Pathogenic
947028 rs1297784711 GRCh37: 4:995596-995596
GRCh38: 4:1001808-1001808
11 IDUA NM_000203.5(IDUA):c.1402+1G>T SNV Pathogenic
1323099 GRCh37: 4:996733-996733
GRCh38: 4:1002945-1002945
12 IDUA NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) SNV Pathogenic
984180 rs776305028 GRCh37: 4:995287-995287
GRCh38: 4:1001499-1001499
13 IDUA NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) SNV Pathogenic
496834 rs794727896 GRCh37: 4:996247-996247
GRCh38: 4:1002459-1002459
14 IDUA, SLC26A1 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) SNV Pathogenic
193061 rs794726877 GRCh37: 4:981024-981024
GRCh38: 4:987236-987236
15 IDUA, SLC26A1 NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV Pathogenic
11922 rs121965029 GRCh37: 4:981704-981704
GRCh38: 4:987916-987916
16 IDUA, SLC26A1 NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) DEL Pathogenic
92643 rs398123260 GRCh37: 4:980907-980918
GRCh38: 4:987119-987130
17 IDUA NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) SNV Pathogenic
11920 rs387906504 GRCh37: 4:998179-998179
GRCh38: 4:1004391-1004391
18 IDUA NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) SNV Pathogenic
1073056 GRCh37: 4:995483-995483
GRCh38: 4:1001695-1001695
19 IDUA NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) SNV Pathogenic
11925 rs121965032 GRCh37: 4:996175-996175
GRCh38: 4:1002387-1002387
20 IDUA NM_000203.5(IDUA):c.1614del (p.His539fs) DEL Pathogenic
167191 rs727503967 GRCh37: 4:997222-997222
GRCh38: 4:1003434-1003434
21 IDUA NM_000203.5(IDUA):c.590-7G>A SNV Pathogenic
Pathogenic
222996 rs762411583 GRCh37: 4:995460-995460
GRCh38: 4:1001672-1001672
22 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) DUP Pathogenic
11921 rs786200915 GRCh37: 4:995488-995489
GRCh38: 4:1001700-1001701
23 IDUA NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg) SNV Pathogenic
960079 rs387906504 GRCh37: 4:998179-998179
GRCh38: 4:1004391-1004391
24 IDUA, SLC26A1 NM_000203.5(IDUA):c.164dup (p.Leu56fs) DUP Pathogenic
855487 rs727503966 GRCh37: 4:981596-981597
GRCh38: 4:987808-987809
25 IDUA NM_000203.5(IDUA):c.386-2A>G SNV Pathogenic
222994 rs777295041 GRCh37: 4:994668-994668
GRCh38: 4:1000880-1000880
26 IDUA NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) SNV Pathogenic
550799 rs762903007 GRCh37: 4:996223-996223
GRCh38: 4:1002435-1002435
27 IDUA, SLC26A1 NM_000203.5(IDUA):c.158+1G>A SNV Pathogenic
526835 rs1264013707 GRCh37: 4:981031-981031
GRCh38: 4:987243-987243
28 IDUA, SLC26A1 NM_000203.5(IDUA):c.141G>A (p.Trp47Ter) SNV Pathogenic
938186 rs1713799895 GRCh37: 4:981013-981013
GRCh38: 4:987225-987225
29 IDUA, SLC26A1 NM_000203.5(IDUA):c.60del (p.Pro22fs) DEL Pathogenic
1068648 GRCh37: 4:980932-980932
GRCh38: 4:987144-987144
30 IDUA, SLC26A1 NM_000203.5(IDUA):c.87del (p.His30fs) DEL Pathogenic
1072941 GRCh37: 4:980959-980959
GRCh38: 4:987171-987171
31 IDUA, SLC26A1 NM_000203.5(IDUA):c.1A>C (p.Met1Leu) SNV Pathogenic
550458 rs1553914737 GRCh37: 4:980873-980873
GRCh38: 4:987085-987085
32 IDUA NM_000203.5(IDUA):c.1728-1G>C SNV Pathogenic
556064 rs1249951282 GRCh37: 4:997799-997799
GRCh38: 4:1004011-1004011
33 IDUA, SLC26A1 NM_000203.5(IDUA):c.1A>G (p.Met1Val) SNV Pathogenic
1323098 GRCh37: 4:980873-980873
GRCh38: 4:987085-987085
34 IDUA, SLC26A1 NM_000203.5(IDUA):c.47C>A (p.Ser16Ter) SNV Pathogenic
1427062 GRCh37: 4:980919-980919
GRCh38: 4:987131-987131
35 IDUA, SLC26A1 NM_000203.5(IDUA):c.132del (p.Arg45fs) DEL Pathogenic
1457071 GRCh37: 4:981003-981003
GRCh38: 4:987215-987215
36 IDUA NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) SNV Pathogenic
552095 rs1340421020 GRCh37: 4:996540-996540
GRCh38: 4:1002752-1002752
37 IDUA NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) DEL Pathogenic
92636 rs398123258 GRCh37: 4:997871-997871
GRCh38: 4:1004083-1004083
38 IDUA NM_000203.5(IDUA):c.1728-2A>G SNV Pathogenic
557744 rs1553917699 GRCh37: 4:997798-997798
GRCh38: 4:1004010-1004010
39 IDUA NC_000004.11:g.(?_996510)_(998355_?)del DEL Pathogenic
1070716 GRCh37: 4:996510-998355
GRCh38:
40 IDUA NM_000203.5(IDUA):c.1190-10_*10del DEL Pathogenic
973582 GRCh37: 4:996510-998191
GRCh38: 4:1002722-1004403
41 IDUA NM_000203.5(IDUA):c.540G>A (p.Trp180Ter) SNV Pathogenic
1321357 GRCh37: 4:995302-995302
GRCh38: 4:1001514-1001514
42 IDUA, SLC26A1 NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) SNV Pathogenic
11914 rs121965022 GRCh37: 4:981630-981630
GRCh38: 4:987842-987842
43 IDUA NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter) SNV Pathogenic
1324567 GRCh37: 4:997231-997231
GRCh38: 4:1003443-1003443
44 IDUA NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter) SNV Pathogenic
1324568 GRCh37: 4:997256-997256
GRCh38: 4:1003468-1003468
45 IDUA NM_000203.5(IDUA):c.1167del (p.Met390fs) DEL Pathogenic
1369150 GRCh37: 4:996250-996250
GRCh38: 4:1002462-1002462
46 IDUA NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) SNV Pathogenic
554590 rs1430681871 GRCh37: 4:995500-995500
GRCh38: 4:1001712-1001712
47 IDUA NM_000203.5(IDUA):c.1047dup (p.Asn350fs) DUP Pathogenic
1425548 GRCh37: 4:996130-996131
GRCh38: 4:1002342-1002343
48 IDUA NM_000203.5(IDUA):c.1815dup (p.Val606fs) DUP Pathogenic
1454082 GRCh37: 4:997884-997885
GRCh38: 4:1004096-1004097
49 SLC26A1 and overlap with 1 gene(s) NC_000004.11:g.(?_980775)_(981747_?)del DEL Pathogenic
1454673 GRCh37: 4:980775-981747
GRCh38:
50 IDUA NM_000203.5(IDUA):c.403del (p.Ser135fs) DEL Pathogenic
1455185 GRCh37: 4:994687-994687
GRCh38: 4:1000899-1000899

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 rs1230234600
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 directly related to Scheie Syndrome:

# Pathway Source
1 MPS I - Hurler syndrome Reactome 66

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 IGF2R HGSNAT GUSB GNS GLB1 GLA
2
Show member pathways
13.68 ARSA ARSB CTSA GALC GALNS GLA
3
Show member pathways
13.58 ARSB CTSA GALNS GLB1 GNS GUSB
4
Show member pathways
12.77 SLC26A1 SGSH NAGLU IDUA IDS HGSNAT
5
Show member pathways
12.34 SGSH NAGLU IDUA IDS HGSNAT GUSB
6
Show member pathways
12.19 SUMF1 GLB1 GLA GALC CTSA ARSB
7
Show member pathways
11.9 M6PR IGF2R GNS
8
Show member pathways
11.71 SUMF1 ARSB ARSA
9
Show member pathways
11.63 GNS GLB1 GALNS
10
Show member pathways
11.46 GLB1 GUSB HGSNAT IDS IDUA NAGLU
11
Show member pathways
11.05 SGSH NAGLU IDUA IDS HGSNAT GUSB
12 10.62 GLB1 GALC

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 10.37 ARSA ARSB CTSA FUCA1 GALNS GLA
2 azurophil granule lumen GO:0035578 10.11 ARSA ARSB CTSA FUCA1 GALNS GLA
3 lysosome GO:0005764 10.09 ARSA ARSB CLN3 CTSA FUCA1 GALC
4 ficolin-1-rich granule lumen GO:1904813 9.92 GUSB GNS GLB1 ARSB
5 lysosomal lumen GO:0043202 9.8 ARSA ARSB CTSA FUCA1 GALC GALNS

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 10.01 M6PR IGF2R CLN3
2 lysosome organization GO:0007040 9.99 NAGLU CLN3 ARSB
3 carbohydrate metabolic process GO:0005975 9.88 IDUA GUSB GLB1 GLA FUCA1
4 lysosomal transport GO:0007041 9.86 M6PR IGF2R HGSNAT ARSB
5 glycosphingolipid metabolic process GO:0006687 9.85 SUMF1 GLB1 GALC
6 glycoside catabolic process GO:0016139 9.78 GLA FUCA1
7 chondroitin sulfate catabolic process GO:0030207 9.76 GUSB IDUA
8 dermatan sulfate catabolic process GO:0030209 9.73 IDUA IDS
9 response to pH GO:0009268 9.7 ARSB ARSA
10 metabolic process GO:0008152 9.7 NAGLU IDUA GUSB GLB1 GLA GALC
11 response to methylmercury GO:0051597 9.67 ARSB ARSA
12 heparan sulfate proteoglycan catabolic process GO:0030200 9.65 GUSB HGSNAT IDS NAGLU SGSH
13 keratan sulfate catabolic process GO:0042340 9.62 GLB1 GNS
14 glycosaminoglycan catabolic process GO:0006027 9.53 SGSH NAGLU IDUA IDS GUSB GNS

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.83 SGSH NAGLU IDUA IDS GUSB GNS
2 arylsulfatase activity GO:0004065 9.8 GALNS ARSB ARSA
3 galactoside binding GO:0016936 9.76 GLB1 GLA
4 retromer complex binding GO:1905394 9.73 M6PR IGF2R
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.73 IDUA GUSB GLB1 GLA GALC
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.7 FUCA1 GALC GLA GLB1 GUSB IDUA
7 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.67 GALNS ARSB
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.58 SGSH GNS
9 sulfuric ester hydrolase activity GO:0008484 9.32 SGSH IDS GNS GALNS ARSB ARSA

Sources for Scheie Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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