MPS1S
MCID: MCP037
MIFTS: 64

Mucopolysaccharidosis is (MPS1S) malady

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

Aliases & Classifications for Mucopolysaccharidosis is

Aliases & Descriptions for Mucopolysaccharidosis is:

Name: Mucopolysaccharidosis is 54 50 13 38
Scheie Syndrome 54 12 50 24 25 56 66 14
Alpha-L-Iduronidase Deficiency 23 50 24 56 66 69
Mucopolysaccharidosis Type I 23 50 24 25 56 52
Mucopolysaccharidosis I 38 12 25 42 14 69
Mucopolysaccharidosis Type is 12 50 56 66
Hurler-Scheie Syndrome 12 50 25 69
Idua Deficiency 23 50 24 25
Mps I 23 50 24 25
Mucopolysaccharidosis Type 1s 12 50 56
Hurler Syndrome 12 50 25
Mps1s 50 56 66
Mucopolysaccharidosis Type V 12 66
Mucopolysaccharidosis 1s 66 29
Mps is 24 66
Mpsis 50 56
Mps1 24 56
Scheie Syndrome Formerly Known As Mucopoly-Saccharidosis Type V) 50
Mucopolysaccharidosis Type V, Formerly 50
Iduronidase Deficiency Disease 12
Mucopolysaccharidosis, Type 1 12
Mucopolysaccharidosis, Mps-I 12
Mucopolysaccharidosis Type 1 56
Pfaundler-Hurler Syndrome 69
Mps I - Hurler Syndrome 12
Mucopolysaccharidosis V 69
Iduronidase, Alpha-L- 13
Lipochondrodystrophy 12
Attenuated Mps I 50
Mps V, Formerly 50
Mps5, Formerly 50
Severe Mps I 50
Mild Mps 1 24
Mps I H-S 25
Mps I H 25
Mps I S 25
Mps1-S 50
Mps 1s 24
Mps-is 66
Mps 1 50
Mps V 66
Mpsi 56

Characteristics:

Orphanet epidemiological data:

56
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;
scheie syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada),<1/1000000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;

HPO:

32
mucopolysaccharidosis is:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607016
Disease Ontology 12 DOID:0060222 DOID:12802
ICD10 33 E76.0
MeSH 42 D008059
NCIt 47 C85053
MESH via Orphanet 43 D008059
ICD10 via Orphanet 34 E76.0
UMLS via Orphanet 70 C0023786 C2713321
MedGen 40 C0026708
UMLS 69 C0023786

Summaries for Mucopolysaccharidosis is

NIH Rare Diseases : 50 mucopolysaccharidosis i (mps i) is a condition that affects many parts of the body. it is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. mps i is caused by mutations in the idua gene. these mutations lead to reduced levels or the complete lack of the idua enzyme. without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (gags) accumulate within cells called lysosomes. this causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. this leads to the medical problems seen in the condition.  mps i was once divided into three separate syndromes: hurler syndrome, hurler-scheie syndrome, and scheie syndrome, listed from most to least severe. because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe mps i and attenuated mps i. people with severe mps i typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. although there is no cure for mps i, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition. last updated: 2/3/2016

MalaCards based summary : Mucopolysaccharidosis is, also known as scheie syndrome, is related to mucopolysaccharidosis ih/s and mucopolysaccharidosis ih, and has symptoms including arthralgia, joint stiffness and macrocephaly. An important gene associated with Mucopolysaccharidosis is is IDUA (Iduronidase, Alpha-L-), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Aldurazyme and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and bone marrow, and related phenotypes are Decreased viability in esophageal squamous lineage and cellular

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

Genetics Home Reference : 25 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

OMIM : 54 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in... (607016) more...

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1162

Related Diseases for Mucopolysaccharidosis is

Diseases in the Mucopolysaccharidosis family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis Ih Mucopolysaccharidosis is
Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Type Vi
Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Iiic
Mucopolysaccharidosis Type Iiid Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Ii
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis is via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis ih/s 12.0
2 mucopolysaccharidosis ih 11.3
3 malignant migrating partial seizures of infancy 11.0
4 dravet syndrome 10.9
5 chronic pyelonephritis 10.1 GLB1 HEXA
6 neurosarcoidosis 10.1 GALNS IDUA NAGLU
7 partial motor epilepsy 10.0 GALNS GLB1 HEXA
8 neuronopathy, distal hereditary motor, type iic 10.0 GAA GALNS
9 spina bifida occulta 10.0 CTSA GLB1
10 malignant fibrous histiocytoma of bone 10.0 CTSA GLB1
11 ectodermal dysplasia, hypohidrotic, with immune deficiency 10.0 GAA GALNS
12 nasopharyngeal carcinoma 2 9.9 CTSA GLB1
13 quadriplegia 9.9 GALNS HEXA IDUA NAGLU
14 mononeuritis of lower limb 9.9 GLA GLB1 HEXA
15 severe combined immunodeficiency due to ada deficiency 9.9 CTSA GLB1
16 aggressive systemic mastocytosis 9.9 CTSA GLA
17 myasthenia gravis 9.9 CTSA GALNS GLB1
18 charge syndrome 9.9 GALNS GLA GLB1 IDUA
19 gaucher disease, type ii 9.9 GLA HEXA
20 glioma susceptibility 4 9.9 CTSA HEXA
21 retinitis pigmentosa 29 9.8 CTSA GAA
22 purpura 9.8 CTSA GLB1 HEXA
23 spondyloenchondrodysplasia with immune dysregulation 9.8 CTSA GLB1 HEXA
24 seizures, benign familial infantile, 1 9.8 CTSA GAA HEXA
25 fucosidosis 9.7 CTSA GAA HEXA
26 megakaryocytic leukemia 9.7 CTSA GAA HEXA
27 hyperinsulinemic hypoglycemia, familial, 4 9.7 CTSA GAA HEXA
28 dysostosis 9.6 CTSA GLA GLB1 HEXA
29 posterior uveal melanoma 9.6 GAA GALNS GLA HEXA IDUA
30 mucopolysaccharidosis 9.5
31 mannosidosis 9.0 CTSA GAA GALNS GLA GLB1 HEXA
32 myopia 23, autosomal recessive 8.8 CTSA GAA GALNS GLA GLB1 HEXA

Graphical network of the top 20 diseases related to Mucopolysaccharidosis is:



Diseases related to Mucopolysaccharidosis is

Symptoms & Phenotypes for Mucopolysaccharidosis is

Symptoms by clinical synopsis from OMIM:

607016

Clinical features from OMIM:

607016

Human phenotypes related to Mucopolysaccharidosis is:

56 32 (show top 50) (show all 76)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 joint stiffness 56 32 Very frequent (99-80%),Occasional (29-5%) HP:0001387
3 macrocephaly 56 32 Frequent (79-30%) HP:0000256
4 joint dislocation 56 32 Occasional (29-5%) HP:0001373
5 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
6 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
7 intellectual disability 56 32 Frequent (79-30%) HP:0001249
8 developmental regression 56 32 Frequent (79-30%) HP:0002376
9 scoliosis 56 32 Very frequent (99-80%) HP:0002650
10 inguinal hernia 56 32 Very frequent (99-80%) HP:0000023
11 gingival overgrowth 56 32 Frequent (79-30%) HP:0000212
12 coarse facial features 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0000280
13 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
14 widely spaced teeth 56 32 Frequent (79-30%) HP:0000687
15 splenomegaly 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0001744
16 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
17 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
18 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
19 corneal opacity 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0007957
20 aseptic necrosis 56 32 Occasional (29-5%) HP:0010885
21 malabsorption 56 32 Frequent (79-30%) HP:0002024
22 thick vermilion border 56 32 Frequent (79-30%) HP:0012471
23 sensorineural hearing impairment 56 32 Frequent (79-30%),Occasional (29-5%) HP:0000407
24 visual impairment 56 32 Occasional (29-5%) HP:0000505
25 optic atrophy 56 32 Occasional (29-5%) HP:0000648
26 short stature 56 32 Very frequent (99-80%) HP:0004322
27 mucopolysacchariduria 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008155
28 retinopathy 56 32 Frequent (79-30%) HP:0000488
29 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
30 full cheeks 56 32 Frequent (79-30%) HP:0000293
31 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
32 thick lower lip vermilion 56 32 Frequent (79-30%) HP:0000179
33 sinusitis 56 32 Very frequent (99-80%) HP:0000246
34 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
35 thick nasal alae 56 32 Frequent (79-30%) HP:0009928
36 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
37 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
38 dolichocephaly 56 32 Frequent (79-30%) HP:0000268
39 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
40 everted lower lip vermilion 56 32 Frequent (79-30%),Frequent (79-30%) HP:0000232
41 microdontia 56 32 Frequent (79-30%) HP:0000691
42 abnormal nasal morphology 56 32 Frequent (79-30%) HP:0005105
43 abnormality of the aortic valve 56 32 Occasional (29-5%) HP:0001646
44 abnormality of the hip bone 56 32 Frequent (79-30%) HP:0003272
45 enlarged thorax 56 32 Frequent (79-30%) HP:0100625
46 apnea 56 32 Frequent (79-30%) HP:0002104
47 paresthesia 56 32 Frequent (79-30%) HP:0003401
48 wide mouth 56 32 Occasional (29-5%) HP:0000154
49 glaucoma 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0000501
50 abnormality of the voice 56 32 Very frequent (99-80%) HP:0001608

UMLS symptoms related to Mucopolysaccharidosis is:


joint stiffness, thick skin

GenomeRNAi Phenotypes related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.1 CTSA GALNS GLA HEXA IDUA UBR5

MGI Mouse Phenotypes related to Mucopolysaccharidosis is:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 NAGLU UBR5 CTSA GAA GALNS GLA
2 behavior/neurological MP:0005386 10.05 NAGLU CTSA GAA GLA GLB1 HEXA
3 growth/size/body region MP:0005378 10.03 CTSA GAA GLA GLB1 HEXA IDUA
4 homeostasis/metabolism MP:0005376 10.01 CTSA GAA GALNS GLA GLB1 HEXA
5 cardiovascular system MP:0005385 9.97 CTSA GAA GLA IDUA NAGLU UBR5
6 mortality/aging MP:0010768 9.87 CTSA GLA GLB1 HEXA IDUA NAGLU
7 craniofacial MP:0005382 9.85 CTSA HEXA IDUA NAGLU UBR5
8 liver/biliary system MP:0005370 9.85 CTSA GLA GLB1 HEXA IDUA NAGLU
9 nervous system MP:0003631 9.73 HEXA IDUA NAGLU UBR5 GLA GLB1
10 renal/urinary system MP:0005367 9.7 CTSA GALNS GLA GLB1 HEXA IDUA
11 skeleton MP:0005390 9.43 GAA GALNS GLB1 HEXA IDUA NAGLU
12 vision/eye MP:0005391 9.02 GALNS GLA HEXA IDUA NAGLU

Drugs & Therapeutics for Mucopolysaccharidosis is

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Aldurazyme 17 LARONIDASE Genzyme Approved May 2003

Drugs for Mucopolysaccharidosis is (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 84)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 1,Phase 2
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
4
Adalimumab Approved Phase 2, Phase 3,Phase 1 331731-18-1 16219006
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3,Phase 1
9 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
10 Olive Nutraceutical Phase 3
11 Omega 3 Fatty Acid Nutraceutical Phase 3
12
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
13
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
14
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19
alemtuzumab Approved, Investigational Phase 2 216503-57-0
20
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
21
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Melphalan Approved Phase 2 148-82-3 4053 460612
24
Acetaminophen Approved Phase 2 103-90-2 1983
25
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
26
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
27
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
28
Promethazine Approved Phase 2 60-87-7 4927
29
Thiotepa Approved Phase 2 52-24-4 5453
30
Vidarabine Approved Phase 2 24356-66-9 32326 21704
31
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
32
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
33
rituximab Approved Phase 2 174722-31-7 10201696
34
Ephedrine Approved Phase 2 299-42-3 9294
35
Pseudoephedrine Approved Phase 2 90-82-4 7028
36
Zinc Approved Phase 1, Phase 2 7440-66-6 32051 23994
37
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
38
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
39
Mesna Approved Phase 2 3375-50-6 598
40 tannic acid Approved, Nutraceutical Phase 2
41
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
42 Antifungal Agents Phase 1, Phase 2
43 Anti-Infective Agents Phase 1, Phase 2
44 Antimetabolites Phase 1, Phase 2
45 Antimetabolites, Antineoplastic Phase 1, Phase 2
46 Calcineurin Inhibitors Phase 1, Phase 2
47 Dermatologic Agents Phase 1, Phase 2
48 Immunosuppressive Agents Phase 1, Phase 2
49 Alkylating Agents Phase 2
50 Antilymphocyte Serum Phase 2

Interventional clinical trials:

(show top 50) (show all 70)
id Name Status NCT ID Phase
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
3 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
4 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
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 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
8 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
9 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
10 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Recruiting NCT02437253 Phase 2, Phase 3
11 Dry Eye Assessment and Management Study Active, not recruiting NCT02128763 Phase 3
12 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3
13 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
14 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2
15 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
16 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2
17 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
18 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
19 Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome) Completed NCT00004454 Phase 1, Phase 2
20 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
21 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
22 A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase® Completed NCT00920647 Phase 1, Phase 2
23 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
24 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
25 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
26 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
27 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Recruiting NCT03128593 Phase 1, Phase 2
28 An 8-week Study to Evaluate Safety and Efficacy of Recombinant Human Nerve Growth Factor (rhNGF) Eye Drops Solution Versus Vehicle in Patients With Dry Eye Recruiting NCT03019627 Phase 2
29 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Active, not recruiting NCT03053089 Phase 1, Phase 2
30 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
31 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
32 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2
33 A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Active, not recruiting NCT02618512 Phase 1, Phase 2
34 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Enrolling by invitation NCT03071341 Phase 1, Phase 2
35 Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and II Not yet recruiting NCT03153319 Phase 1, Phase 2
36 Gene Therapy in Patients With Mucopolysaccharidosis Disease Not yet recruiting NCT03173521 Phase 1, Phase 2
37 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
38 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
39 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
40 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
41 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Recruiting NCT03041324 Phase 1
42 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Active, not recruiting NCT02371226 Phase 1
43 Intrathecal Enzyme Replacement for Hurler Syndrome Active, not recruiting NCT00638547 Phase 1
44 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Active, not recruiting NCT01173016 Phase 1
45 Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 Enrolling by invitation NCT02597114 Phase 1
46 Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I Terminated NCT00215527 Phase 1
47 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1
48 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
49 Effects of Growth Hormone in Chronically Ill Children Unknown status NCT00286689
50 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358

Search NIH Clinical Center for Mucopolysaccharidosis is

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: mucopolysaccharidosis i

Genetic Tests for Mucopolysaccharidosis is

Genetic tests related to Mucopolysaccharidosis is:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I 29 24 IDUA
2 Scheie Syndrome 24

Anatomical Context for Mucopolysaccharidosis is

MalaCards organs/tissues related to Mucopolysaccharidosis is:

39
Bone, Bone Marrow, Heart, Skin, Eye, Brain, Tonsil
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Mucopolysaccharidosis is:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate

Publications for Mucopolysaccharidosis is

Articles related to Mucopolysaccharidosis is:

id Title Authors Year
1
Surgical Management of Progressive Thoracolumbar Kyphosis in Mucopolysaccharidosis: Is a Posterior-only Approach Safe and Effective? ( 27403916 )
2016

Variations for Mucopolysaccharidosis is

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis is:

66 (show all 14)
id 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
9 IDUA p.Tyr76Cys VAR_066215 rs780165694
10 IDUA p.Gly219Glu VAR_066220
11 IDUA p.Glu276Lys VAR_066222
12 IDUA p.Trp306Leu VAR_066223
13 IDUA p.Asn348Lys VAR_066224 rs746766617
14 IDUA p.Leu18Pro VAR_072367 rs794726878

ClinVar genetic disease variations for Mucopolysaccharidosis is:

6 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1 IDUA IDUA, IVS5AS, G-A, -7 single nucleotide variant Pathogenic
2 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
3 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
4 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
5 IDUA IDUA, 1-BP DEL, 1702G deletion Pathogenic
6 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh37 Chromosome 4, 981630: 981630
7 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh37 Chromosome 4, 995905: 995905
8 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh37 Chromosome 4, 996180: 996180
9 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh37 Chromosome 4, 998080: 998080
10 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh37 Chromosome 4, 996896: 996896
11 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh37 Chromosome 4, 996890: 996890
12 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh37 Chromosome 4, 998179: 998179
13 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
14 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
15 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
16 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh37 Chromosome 4, 996129: 996129
17 IDUA NM_000203.4(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh37 Chromosome 4, 996733: 996733
18 IDUA NM_000203.4(IDUA): c.1650+5G> A single nucleotide variant Pathogenic rs398123256 GRCh37 Chromosome 4, 997263: 997263
19 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh37 Chromosome 4, 997871: 997871
20 IDUA NM_000203.4(IDUA): c.299+1G> T single nucleotide variant Pathogenic rs398123259 GRCh37 Chromosome 4, 981738: 981738
21 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh37 Chromosome 4, 980918: 980929
22 IDUA NM_000203.4(IDUA): c.501C> G (p.Tyr167Ter) single nucleotide variant Pathogenic rs200726100 GRCh37 Chromosome 4, 995263: 995263
23 IDUA NM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys) single nucleotide variant Pathogenic rs587779401 GRCh37 Chromosome 4, 998093: 998093
24 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh37 Chromosome 4, 996063: 996063
25 IDUA NM_000203.4(IDUA): c.164delC (p.Pro55Argfs) deletion Pathogenic rs727503966 GRCh37 Chromosome 4, 981602: 981602
26 IDUA NM_000203.4(IDUA): c.1614delG (p.His539Thrfs) deletion Pathogenic rs727503967 GRCh37 Chromosome 4, 997222: 997222
27 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh37 Chromosome 4, 981024: 981024
28 IDUA NM_000203.4(IDUA): c.191_192delAC (p.Tyr64Cysfs) deletion Pathogenic rs794727240 GRCh37 Chromosome 4, 981629: 981630
29 IDUA NM_000203.4(IDUA): c.494-1G> C single nucleotide variant Pathogenic rs794727701 GRCh37 Chromosome 4, 995255: 995255
30 IDUA NM_000203.4(IDUA): c.972+1G> A single nucleotide variant Pathogenic rs794727840 GRCh37 Chromosome 4, 995950: 995950
31 IDUA NM_000203.4(IDUA): c.386-2A> G single nucleotide variant Pathogenic rs777295041 GRCh38 Chromosome 4, 1000880: 1000880
32 IDUA NM_000203.4(IDUA): c.590-7G> A single nucleotide variant Pathogenic rs762411583 GRCh38 Chromosome 4, 1001672: 1001672
33 IDUA NM_000203.4(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 GRCh38 Chromosome 4, 1001742: 1001742
34 IDUA NM_000203.4(IDUA): c.1029C> A (p.Tyr343Ter) single nucleotide variant Pathogenic rs764196171 GRCh38 Chromosome 4, 1002325: 1002325
35 IDUA NM_000203.4(IDUA): c.223G> A (p.Ala75Thr) single nucleotide variant Pathogenic rs758452450 GRCh37 Chromosome 4, 981661: 981661
36 IDUA NM_000203.4(IDUA): c.612_615dupCTGC (p.Ser206Leufs) duplication Pathogenic rs875989947 GRCh38 Chromosome 4, 1001701: 1001704
37 IDUA NM_000203.4(IDUA): c.1855C> T (p.Arg619Ter) single nucleotide variant Pathogenic rs121965031 GRCh37 Chromosome 4, 998074: 998074
38 IDUA NM_000203.4(IDUA): c.1898C> G (p.Ser633Trp) single nucleotide variant Pathogenic rs886043347 GRCh37 Chromosome 4, 998117: 998117

Expression for Mucopolysaccharidosis is

Search GEO for disease gene expression data for Mucopolysaccharidosis is.

Pathways for Mucopolysaccharidosis is

Pathways related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CTSA GAA GALNS GLA GLB1 HEXA
2
Show member pathways
12.3 GAA GLB1 HEXA IDUA NAGLU
3
Show member pathways
12.13 GLB1 HEXA IDUA NAGLU
4
Show member pathways
11.96 CTSA GLA GLB1 HEXA
5
Show member pathways
11.66 GAA GLA GLB1
6 11.32 CTSA GAA GALNS GLA GLB1 HEXA
7
Show member pathways
11.05 GLA HEXA
8
Show member pathways
10.9 GLB1 HEXA
9 10.69 GLB1 HEXA
10
Show member pathways
10.65 GALNS GLB1 HEXA IDUA NAGLU

GO Terms for Mucopolysaccharidosis is

Cellular components related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 CTSA GAA GALNS GLA GLB1 HEXA
2 lysosome GO:0005764 9.56 CTSA GAA GALNS GLA GLB1 HEXA
3 azurophil granule lumen GO:0035578 9.46 CTSA GALNS GLA GLB1
4 lysosomal lumen GO:0043202 9.23 CTSA GAA GALNS GLA GLB1 HEXA

Biological processes related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 CTSA GAA GALNS GLA GLB1
2 carbohydrate metabolic process GO:0005975 9.65 GAA GLA GLB1 HEXA IDUA
3 glycosaminoglycan catabolic process GO:0006027 9.5 GLB1 IDUA NAGLU
4 lysosome organization GO:0007040 9.43 GAA NAGLU
5 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA IDUA
6 keratan sulfate catabolic process GO:0042340 9.33 GALNS GLB1 HEXA
7 glycosphingolipid metabolic process GO:0006687 9.26 CTSA GLA GLB1 HEXA
8 metabolic process GO:0008152 9.17 GAA GALNS GLA GLB1 HEXA IDUA

Molecular functions related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 CTSA GAA GALNS GLA GLB1 HEXA
2 exo-alpha-sialidase activity GO:0004308 9.32 CTSA GLB1
3 galactoside binding GO:0016936 9.26 GLA GLB1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GAA GLA GLB1 IDUA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 GAA GLA GLB1 HEXA IDUA NAGLU

Sources for Mucopolysaccharidosis is

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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