MCID: MCP033
MIFTS: 44

Mucopolysaccharidoses

Categories: Bone diseases, Metabolic diseases, Oral diseases, Skin diseases
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Aliases & Classifications for Mucopolysaccharidoses

MalaCards integrated aliases for Mucopolysaccharidoses:

Name: Mucopolysaccharidoses 52 5 71 75

Classifications:



External Ids:

UMLS 71 C0026703

Summaries for Mucopolysaccharidoses

NINDS: 52 The mucopolysaccharidoses are a group of inherited metabolic diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development. Depending on the type of mucopolysaccharidosis, affected individuals may have normal intellect or may be profoundly impaired, may experience developmental delay, or have severe behavioral problems. Physical symptoms generally include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape (and other skeletal irregularities), thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth.

MalaCards based summary: Mucopolysaccharidoses is related to mucopolysaccharidosis-plus syndrome and multiple sulfatase deficiency. An important gene associated with Mucopolysaccharidoses is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Metabolism and Disease. The drugs Rituximab and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and tongue, and related phenotypes are Increased shRNA abundance (Z-score > 2) and renal/urinary system

Wikipedia: 75 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Related Diseases for Mucopolysaccharidoses

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

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis-plus syndrome 30.7 IDUA IDS GUSB GALNS ARSB
2 multiple sulfatase deficiency 30.6 IDS GALNS ARSB
3 scheie syndrome 30.5 IDUA IDS GUSB GALNS ARSB
4 hurler-scheie syndrome 30.4 IDUA IDS GALNS ARSB
5 mucopolysaccharidosis iii 30.4 IDUA IDS GUSB GALNS ARSB
6 mucopolysaccharidosis iv 30.2 IDUA IDS GUSB GALNS ARSB
7 hurler syndrome 30.2 IDUA IDS GUSB GALNS ARSB
8 mucopolysaccharidosis, type ivb 30.1 IDUA IDS GUSB GALNS ARSB
9 mucopolysaccharidosis, type iiid 30.1 IDUA IDS GUSB GALNS ARSB
10 mucolipidosis ii alpha/beta 30.0 IDUA GUSB
11 gangliosidosis 30.0 IDUA GALNS
12 mucolipidosis iii alpha/beta 29.8 GUSB ARSB
13 mucopolysaccharidosis, type ii 29.8 IDUA IDS GUSB GALNS ARSB
14 mucopolysaccharidosis, type vi 29.7 IDUA IDS GUSB GALNS ARSB
15 osteochondrodysplasia 29.6 IDUA GUSB GALNS
16 mucopolysaccharidosis, type iva 29.6 IDUA IDS GUSB GALNS ARSB
17 mucolipidosis 29.6 IDUA GALNS ARSB
18 mannosidosis, alpha b, lysosomal 29.5 IDUA GUSB ARSB
19 mucopolysaccharidosis, type vii 29.4 IDUA IDS GUSB GALNS ARSB
20 lysosomal storage disease 29.4 IDUA IDS GUSB GALNS ARSB
21 mucopolysaccharidosis, type iiic 29.4 IDUA IDS GALNS ARSB
22 galactosialidosis 29.3 IDUA GALNS
23 mucopolysaccharidosis, type iiib 29.3 IDUA IDS GUSB GALNS ARSB
24 mucopolysaccharidosis, type iiia 29.3 IDUA IDS GUSB GALNS ARSB
25 fucosidosis 29.3 IDUA GALNS
26 inguinal hernia 29.1 IDUA IDS ARSB
27 umbilical hernia 28.9 IDUA GALNS ARSB
28 gm1 gangliosidosis 28.8 IDUA IDS GALNS ARSB
29 neuronal ceroid lipofuscinosis 28.3 IDUA IDS GUSB GALNS ARSB
30 mucopolysaccharidoses, unclassified types 11.0
31 lysosomal disease 10.7
32 mucolipidoses 10.4
33 carpal tunnel syndrome 10.4
34 mucopolysaccharidosis, type ix 10.4
35 mononeuropathy of the median nerve, mild 10.4
36 dysostosis 10.3
37 lysosomal storage disease with skeletal involvement 10.3
38 otitis media 10.2
39 hydrocephalus 10.2
40 inherited metabolic disorder 10.2
41 3-methylglutaconic aciduria, type iii 10.2
42 apnea, obstructive sleep 10.2
43 hydrocephalus, congenital, 1 10.2
44 bone disease 10.2
45 spinal cord disease 10.2
46 arthropathy 10.2
47 heart valve disease 10.2
48 respiratory failure 10.1
49 ocular hypertension 10.1
50 peripheral retinal degeneration 10.1

Graphical network of the top 20 diseases related to Mucopolysaccharidoses:



Diseases related to Mucopolysaccharidoses

Symptoms & Phenotypes for Mucopolysaccharidoses

GenomeRNAi Phenotypes related to Mucopolysaccharidoses according to GeneCards Suite gene sharing:

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.64 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.64 GALNS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.64 ARSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.64 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.64 IDS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.64 IDS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.64 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.64 IDS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.64 ARSB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 ARSB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.64 IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.64 IDS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 GALNS IDS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.64 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidoses:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.8 ARSB GALNS GUSB IDS IDUA
2 limbs/digits/tail MP:0005371 9.67 ARSB GUSB IDS IDUA
3 hearing/vestibular/ear MP:0005377 9.62 ARSB GUSB IDS IDUA
4 craniofacial MP:0005382 9.56 ARSB GUSB IDS IDUA
5 cellular MP:0005384 9.55 ARSB GALNS GUSB IDS IDUA
6 skeleton MP:0005390 9.35 ARSB GALNS GUSB IDS IDUA
7 vision/eye MP:0005391 8.92 ARSB GALNS IDS IDUA

Drugs & Therapeutics for Mucopolysaccharidoses

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rituximab Approved Phase 4 174722-31-7
2
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Immunoglobulins Phase 4
6 Antibodies Phase 4
7 Immunologic Factors Phase 4
8 Antirheumatic Agents Phase 4
9 Antimetabolites Phase 4
10 Immunosuppressive Agents Phase 4
11 Dermatologic Agents Phase 4
12 Antineoplastic Agents, Immunological Phase 4
13 Folic Acid Antagonists Phase 4
14 Immunoglobulins, Intravenous Phase 4
15 Folate Phase 4
16 Vitamin B9 Phase 4
17 Vitamin B Complex Phase 4
18 Antibodies, Blocking Phase 4
19 gamma-Globulins Phase 4
20 Rho(D) Immune Globulin Phase 4
21
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
22
Lysine Approved, Nutraceutical Phase 2, Phase 3 56-87-1 5962
23 Cyclosporins Phase 2, Phase 3
24 Thymoglobulin Phase 2, Phase 3
25 Pharmaceutical Solutions Phase 3
26 Somatomedin B Phase 2, Phase 3
27 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
28 Hormones Phase 2, Phase 3
29
Losartan Approved Phase 2 114798-26-4 3961
30
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
31
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
32
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
33
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
34
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
35
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
36
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
37
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
38
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
39
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
40
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
41
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
42
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
43
Busulfan Approved, Investigational Phase 2 55-98-1 2478
44
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
45
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1
46
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
49
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
50
Tocopherol Approved, Investigational Phase 2 1406-66-2

Interventional clinical trials:

(show top 50) (show all 161)
# 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 Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00607386 Phase 4
4 A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI) Completed NCT00299000 Phase 4 Naglazyme
5 A Prospective, Multicenter, Single-arm, Open-label, Interventional Phase IV Study to Evaluate the Safety and Efficacy of Idursulfase (r-DNA Origin) (Elaprase™) in Indian Pediatric and Adult Population With Hunter Syndrome (Mucopolysaccharidosis II) Recruiting NCT05058391 Phase 4
6 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
7 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
8 An Open-label, Multicenter, Phase 4 Study to Assess the Effects of a Prophylactic Immune Tolerizing Regimen in MPS II Treatment-Naïve Patients Planned to Receive ELAPRASE Who Are at Risk of Developing Persistent Neutralizing Antibodies Not yet recruiting NCT05494593 Phase 4 ELAPRASE;Rituximab;Methotrexate;Intravenous Immunoglobulin (IVIG)
9 Phase 3, Double-blind, Randomized, Active-controlled (Part 1) and Open-labeled, Historical Placebo Controlled (Part 2) Study to Evaluate the Efficacy of Hunterase (Idursulfase-beta) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Unknown status NCT03920540 Phase 3
10 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
11 An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Completed NCT00630747 Phase 2, Phase 3
12 A Multicenter Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01966029 Phase 3 BMN 110
13 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
14 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Completed NCT02432144 Phase 3 UX003
15 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
16 A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03568175 Phase 2, Phase 3 JR-141
17 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
18 A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of Weekly and Every Other Week Dosing Regimens of Iduronate-2-Sulfatase Enzyme Replacement Therapy in Patients With MPS II Completed NCT00069641 Phase 2, Phase 3
19 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
20 A Multicenter, Multinational Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
21 A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 Completed NCT02230566 Phase 3 UX003
22 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/Week and 2.0 mg/kg/Every Other Week BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
23 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
24 A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II Recruiting NCT04573023 Phase 3 JR-141;Idursulfase;JR-141 or Idursulfase
25 Multicenter, Open-Label, Multi-cohort Study to Evaluate Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Drug Product GNR 055 (JSC "GENERIUM", Russia) in Patients With Mucopolysaccharidosis Type II Recruiting NCT05208281 Phase 2, Phase 3 GNR-055 1.0-2.0-3.0 mg/kg;GNR-055 2.0 mg/kg;GNR-055 3.0 mg/kg
26 A Phase 1/2/3 Multicenter, Open-Label Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects With MPS II (Hunter Syndrome) Recruiting NCT03566043 Phase 2, Phase 3
27 A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Recruiting NCT05371613 Phase 2, Phase 3 DNL310;Idursulfase
28 An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II Active, not recruiting NCT04348136 Phase 2, Phase 3 JR-141
29 Open-label, Single-arm, Multi-center Study of Intracerebral Administration of Adeno-associated Viral (AAV) Serotype rh.10 Carrying Human N-sulfoglucosamine Sulfohydrolase (SGSH) cDNA for Treatment of Mucopolysaccharidosis Type IIIA Active, not recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
30 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
31 An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male Subjects Not yet recruiting NCT05594992 Phase 3 JR-141
32 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
33 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)
34 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Unknown status NCT03632213 Phase 2 Losartan;Placebo
35 Phase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Unknown status NCT02663024 Phase 2
36 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
37 Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. Completed NCT02053064 Phase 1, Phase 2
38 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
39 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141
40 An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT01856218 Phase 1, Phase 2 UX003
41 Phase I/II Study of JR-171 ㏌ Patients With Mucopolysaccharidosis Type I Completed NCT04227600 Phase 1, Phase 2 JR-171
42 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT02754076 Phase 1, Phase 2 AX 250
43 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)
44 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
45 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
46 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
47 A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI Completed NCT03370653 Phase 2 Odiparcil
48 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
49 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
50 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

Search NIH Clinical Center for Mucopolysaccharidoses

Genetic Tests for Mucopolysaccharidoses

Anatomical Context for Mucopolysaccharidoses

Organs/tissues related to Mucopolysaccharidoses:

MalaCards : Bone, Liver, Tongue, Spleen, Skin, Spinal Cord, Brain

Publications for Mucopolysaccharidoses

Articles related to Mucopolysaccharidoses:

(show top 50) (show all 1404)
# Title Authors PMID Year
1
Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases. 62
36458130 2022
2
Objectively measuring anterior segment alterations in the eyes of mucopolysaccharidoses: Its utility in early diagnosis of glaucoma. 62
36453310 2022
3
Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses. 62
36356930 2022
4
Tubulin Cytoskeleton in Neurodegenerative Diseases-not Only Primary Tubulinopathies. 62
36352320 2022
5
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review. 62
36341168 2022
6
[Pulmonary phenotypes of inborn errors of metabolism]. 62
36229356 2022
7
An Infant Presenting with Interstitial Lung Disease Diagnosed Later as Hunter Syndrome: A Case Report. 62
36331899 2022
8
A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease. 62
36412587 2022
9
Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. 62
36293546 2022
10
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. 62
34916232 2022
11
Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses. 62
36233030 2022
12
[Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene]. 62
36184100 2022
13
Current and new therapies for mucopolysaccharidoses. 62
36464587 2022
14
Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis. 62
35798429 2022
15
Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis. 62
36101826 2022
16
Mucopolysaccharidoses and the blood-brain barrier. 62
36117162 2022
17
Living through liminality? Situating the transitional experience of parents of children with mucopolysaccharidoses. 62
34406667 2022
18
Cell cycle disturbances in mucopolysaccharidoses: Transcriptomic and experimental studies on cellular models. 62
36000158 2022
19
Misdiagnosis in mucopolysaccharidoses. 62
35562626 2022
20
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. 62
36292628 2022
21
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes. 62
36064607 2022
22
Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles. 62
36057729 2022
23
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. 62
36077388 2022
24
Mandibular condyle morphology among patients with mucopolysaccharidosis: An observational study of panoramic radiographs. 62
34967064 2022
25
Disease correction in Mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector. 62
35997776 2022
26
Ex Vivo and In Vivo Gene Therapy for Mucopolysaccharidoses: State of the Art. 62
35773049 2022
27
The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study. 62
36013292 2022
28
Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital. 62
36060393 2022
29
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review. 62
35804400 2022
30
Long-Term Outcomes of Big Bubble Deep Anterior Lamellar Keratoplasty in Mucopolysaccharidoses: A Retrospective Case Series and Review of the Literature. 62
35439776 2022
31
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies. 62
36158053 2022
32
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study. 62
35768874 2022
33
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk. 62
35262230 2022
34
Chest wall volumes, diaphragmatic mobility, and functional capacity in patients with mucopolysaccharidoses. 62
35695376 2022
35
Treatment of Neuronopathic Mucopolysaccharidoses with Blood-Brain Barrier-Crossing Enzymes: Clinical Application of Receptor-Mediated Transcytosis. 62
35745811 2022
36
Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells. 62
35537249 2022
37
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome. 62
35628659 2022
38
Carpal tunnel syndrome and finger deformities in children with mucopolysaccharidoses and mucolipidoses: a retrospective review of 52 patients. 62
34851776 2022
39
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion). 62
35005816 2022
40
Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory. 62
35645695 2022
41
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example. 62
35629276 2022
42
Burden of Morbidity after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A BMT Survivor Study Report. 62
34879288 2022
43
Response to Letter to the Editor: Secondary ganglioside GM2 accumulation in mucopolysaccharidoses. 62
34917476 2022
44
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes. 62
35456399 2022
45
Prenatal diagnosis of mucopolysaccharidoses type II by two-dimensional electrophoresis and mass spectrometry in amniotic fluid. 62
35026871 2022
46
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers. 62
35331284 2022
47
Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses? 62
35246201 2022
48
Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes. 62
34896230 2022
49
Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies. 62
34928474 2022
50
Innate Immunity in Mucopolysaccharide Diseases. 62
35216110 2022

Variations for Mucopolysaccharidoses

ClinVar genetic disease variations for Mucopolysaccharidoses:

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV Not Provided
1237 rs121908285 GRCh37: 8:43037305-43037305
GRCh38: 8:43182162-43182162
2 HGSNAT NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) SNV Not Provided
830365 rs1803654249 GRCh37: 8:43027493-43027493
GRCh38: 8:43172350-43172350
3 HGSNAT NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) SNV Not Provided
830366 rs1372286994 GRCh37: 8:43052985-43052985
GRCh38: 8:43197842-43197842
4 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) SNV Not Provided
252961 rs370717845 GRCh37: 8:43016605-43016605
GRCh38: 8:43161462-43161462
5 NAGLU NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) SNV Not Provided
830368 rs370523900 GRCh37: 17:40689561-40689561
GRCh38: 17:42537543-42537543
6 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV Not Provided
279891 rs144143780 GRCh37: 17:78184621-78184621
GRCh38: 17:80210822-80210822
7 SGSH NM_000199.5(SGSH):c.1080del (p.Val361fs) DEL Not Provided
518268 rs770947426 GRCh37: 17:78184680-78184680
GRCh38: 17:80210881-80210881
8 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) SNV Not Provided
1562 rs104894592 GRCh37: 17:40693092-40693092
GRCh38: 17:42541074-42541074
9 NAGLU NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) SNV Not Provided
553204 rs749140168 GRCh37: 17:40693203-40693203
GRCh38: 17:42541185-42541185
10 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) SNV Not Provided
1566 rs104894595 GRCh37: 17:40695586-40695586
GRCh38: 17:42543568-42543568
11 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) SNV Not Provided
1565 rs104894594 GRCh37: 17:40695951-40695951
GRCh38: 17:42543933-42543933
12 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) SNV Not Provided
522823 rs148881970 GRCh37: 17:40695858-40695858
GRCh38: 17:42543840-42543840
13 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) SNV Not Provided
632282 rs147036053 GRCh37: 17:40695924-40695924
GRCh38: 17:42543906-42543906
14 SGSH NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) SNV Not Provided
5111 rs104894637 GRCh37: 17:78190883-78190883
GRCh38: 17:80217084-80217084
15 NAGLU NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) SNV Not Provided
830367 rs1353058781 GRCh37: 17:40695513-40695513
GRCh38: 17:42543495-42543495
16 SGSH NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) SNV Not Provided
5108 rs104894636 GRCh37: 17:78190860-78190860
GRCh38: 17:80217061-80217061
17 CARD14, SGSH NM_000199.5(SGSH):c.734G>A (p.Arg245His) SNV Not Provided
5107 rs104894635 GRCh37: 17:78187614-78187614
GRCh38: 17:80213815-80213815
18 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Not Provided
30459 rs138504221 GRCh37: 17:78185927-78185927
GRCh38: 17:80212128-80212128

Expression for Mucopolysaccharidoses

Search GEO for disease gene expression data for Mucopolysaccharidoses.

Pathways for Mucopolysaccharidoses

Pathways related to Mucopolysaccharidoses according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 IDUA IDS GUSB GALNS ARSB
2
Show member pathways
13.2 IDUA IDS GUSB GALNS ARSB
3
Show member pathways
12.32 IDUA IDS GUSB GALNS ARSB
4
Show member pathways
12 IDUA IDS GUSB GALNS ARSB
5
Show member pathways
11.9 IDUA IDS ARSB
6
Show member pathways
11.19 IDUA IDS GUSB
7
Show member pathways
10.75 IDUA IDS GUSB GALNS ARSB

GO Terms for Mucopolysaccharidoses

Cellular components related to Mucopolysaccharidoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 azurophil granule lumen GO:0035578 9.63 GUSB GALNS ARSB
2 lysosome GO:0005764 9.5 IDUA IDS GUSB GALNS ARSB
3 lysosomal lumen GO:0043202 9.32 IDUA IDS GUSB GALNS ARSB

Biological processes related to Mucopolysaccharidoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparan sulfate proteoglycan catabolic process GO:0030200 9.56 IDS GUSB
2 chondroitin sulfate catabolic process GO:0030207 9.46 IDUA GUSB
3 metabolic process GO:0008152 9.32 IDUA GUSB
4 dermatan sulfate catabolic process GO:0030209 9.26 IDUA IDS
5 glycosaminoglycan catabolic process GO:0006027 9.1 IDUA IDS GUSB

Molecular functions related to Mucopolysaccharidoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 arylsulfatase activity GO:0004065 9.56 GALNS ARSB
2 hydrolase activity GO:0016787 9.55 IDUA IDS GUSB GALNS ARSB
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.5 IDUA GUSB
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.37 IDUA GUSB
5 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 GALNS ARSB
6 sulfuric ester hydrolase activity GO:0008484 9.02 IDS GALNS ARSB

Sources for Mucopolysaccharidoses

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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