MCID: MCP033
MIFTS: 44

Mucopolysaccharidoses

Categories: Bone diseases, Metabolic diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidoses

MalaCards integrated aliases for Mucopolysaccharidoses:

Name: Mucopolysaccharidoses 53 6 70

Classifications:



External Ids:

UMLS 70 C0026703

Summaries for Mucopolysaccharidoses

NINDS : 53 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 multiple sulfatase deficiency and mucopolysaccharidosis, type iiid. An important gene associated with Mucopolysaccharidoses is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include spleen, tongue and bone marrow, and related phenotypes are cellular and cardiovascular system

Wikipedia : 73 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 178)
# Related Disease Score Top Affiliating Genes
1 multiple sulfatase deficiency 31.1 ARSH ARSB
2 mucopolysaccharidosis, type iiid 30.8 SGSH NAGLU IDUA HGSNAT
3 morquio syndrome 30.7 GUSB ARSH
4 hurler syndrome 30.6 SLC26A1 NAGLU IDUA GUSB ARSB
5 hurler-scheie syndrome 30.2 SLC26A1 SGSH NAGLU IDUA ARSB
6 mucopolysaccharidosis iv 29.9 SGSH NAGLU IDUA HGSNAT GUSB ARSB
7 mucopolysaccharidosis-plus syndrome 29.9 SGSH NAGLU IDUA HGSNAT GUSB CARD14
8 mucolipidosis 29.9 IDUA ARSH ARSB
9 scheie syndrome 29.8 SLC26A1 SGSH NAGLU IDUA HGSNAT GUSB
10 mucolipidosis ii alpha/beta 29.8 NAGLU IDUA GUSB ARSH
11 mannosidosis, alpha b, lysosomal 29.6 SGSH IDUA GUSB
12 leukodystrophy 29.4 IDUA ARSH ARSB
13 mucolipidosis iii alpha/beta 29.4 NAGLU GUSB ARSB
14 umbilical hernia 29.3 IDUA ARSB
15 mucopolysaccharidosis, type iva 29.2 SGSH NAGLU IDUA GUSB ARSH ARSB
16 mucopolysaccharidosis, type vi 29.2 NAGLU IDUA HGSNAT GUSB ARSH ARSB
17 fucosidosis 29.2 NAGLU IDUA ARSB
18 tay-sachs disease 29.1 SGSH IDUA
19 mucopolysaccharidosis, type vii 29.0 SGSH NAGLU IDUA HGSNAT GUSB ARSB
20 lysosomal storage disease 29.0 SGSH NAGLU IDUA HGSNAT GUSB ARSH
21 mucopolysaccharidosis, type ii 29.0 SGSH NAGLU IDUA HGSNAT GUSB ARSH
22 gm1 gangliosidosis 28.9 SGSH NAGLU IDUA ARSB
23 mucopolysaccharidosis, type iiic 28.9 SGSH NAGLU IDUA HGSNAT ARSB
24 mucopolysaccharidosis, type ivb 28.8 SGSH NAGLU IDUA HGSNAT ARSB
25 mucopolysaccharidosis, type iiib 28.8 SGSH NAGLU IDUA HGSNAT GUSB ARSB
26 mucopolysaccharidosis iii 28.5 SGSH NAGLU IDUA HGSNAT GUSB CARD14
27 mucopolysaccharidosis, type iiia 28.3 SGSH NAGLU IDUA HGSNAT GUSB CARD14
28 mucopolysaccharidoses, unclassified types 11.0
29 macular dystrophy, corneal 10.9
30 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.9
31 mucolipidoses 10.4
32 carpal tunnel syndrome 10.3
33 dysostosis 10.3
34 lysosomal storage disease with skeletal involvement 10.3
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
36 hydrocephalus 10.2
37 inherited metabolic disorder 10.2
38 otitis media 10.2
39 3-methylglutaconic aciduria, type iii 10.1
40 mongolian spot 10.1 NAGLU IDUA
41 heart valve disease 10.1
42 ocular hypertension 10.1
43 retinal degeneration 10.1
44 macroglossia 10.0
45 bone disease 10.0
46 respiratory failure 10.0
47 gangliosidosis 10.0
48 sleep apnea 10.0
49 tracheomalacia 10.0
50 sensorineural hearing loss 10.0

Graphical network of the top 20 diseases related to Mucopolysaccharidoses:



Diseases related to Mucopolysaccharidoses

Symptoms & Phenotypes for Mucopolysaccharidoses

MGI Mouse Phenotypes related to Mucopolysaccharidoses:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ARSB CARD14 DPP4 GUSB HGSNAT IDUA
2 cardiovascular system MP:0005385 10.02 ARSB CARD14 DPP4 HGSNAT IDUA NAGLU
3 hematopoietic system MP:0005397 9.97 ARSB CARD14 DPP4 GUSB HGSNAT IDUA
4 adipose tissue MP:0005375 9.89 ARSB GUSB HGSNAT IDUA SGSH
5 immune system MP:0005387 9.87 CARD14 DPP4 HGSNAT IDUA NAGLU SGSH
6 craniofacial MP:0005382 9.83 ARSB GUSB IDUA NAGLU SGSH
7 hearing/vestibular/ear MP:0005377 9.8 ARSB DPP4 GUSB IDUA NAGLU
8 limbs/digits/tail MP:0005371 9.65 ARSB GUSB HGSNAT IDUA SGSH
9 liver/biliary system MP:0005370 9.55 HGSNAT IDUA NAGLU SGSH SLC26A1
10 renal/urinary system MP:0005367 9.5 ARSB GUSB HGSNAT IDUA NAGLU SGSH
11 skeleton MP:0005390 9.1 ARSB GUSB HGSNAT IDUA NAGLU SGSH

Drugs & Therapeutics for Mucopolysaccharidoses

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3
Lysine Approved, Nutraceutical Phase 2, Phase 3 56-87-1 5962
4 Pharmaceutical Solutions Phase 3
5 Antirheumatic Agents Phase 2, Phase 3
6 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
7 Hormones Phase 2, Phase 3
8
Mesna Approved, Investigational Phase 2 3375-50-6 598
9
tannic acid Approved Phase 2 1401-55-4
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
14
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
15
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
16
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
17
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
18
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
19
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
20
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
21
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
22
Losartan Approved Phase 2 114798-26-4 3961
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Busulfan Approved, Investigational Phase 2 55-98-1 2478
25
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
26
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1 16219006
27
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
28
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
29
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
30
Tocopherol Approved, Investigational Phase 2 1406-66-2
31
rituximab Approved Phase 2 174722-31-7 10201696
32
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
33
Morphine Approved, Investigational Phase 2 57-27-2 5288826
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
35
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
36 Tocotrienol Investigational Phase 2 6829-55-6
37 Antibodies, Monoclonal Phase 1, Phase 2
38 Antibiotics, Antitubercular Phase 2
39 Immunosuppressive Agents Phase 2
40 Antineoplastic Agents, Immunological Phase 2
41 Cyclosporins Phase 1, Phase 2
42 Anti-Infective Agents Phase 2
43 Alkylating Agents Phase 2
44 Anti-Bacterial Agents Phase 2
45 Antitubercular Agents Phase 2
46 Dermatologic Agents Phase 2
47 Antifungal Agents Phase 2
48 Calcineurin Inhibitors Phase 2
49 Thymoglobulin Phase 2
50 Methylprednisolone Acetate Phase 2

Interventional clinical trials:

(show top 50) (show all 140)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Unknown status NCT00418821 Phase 4
2 A 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
3 A Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00144781 Phase 4
4 A 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
5 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
6 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
7 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
8 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
9 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
10 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
11 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
12 A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03568175 Phase 2, Phase 3 JR-141
13 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
14 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
15 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
16 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
17 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
18 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
19 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
20 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
21 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
22 An Extension Study of JR-141-301 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT04348136 Phase 2, Phase 3 JR-141
23 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
24 A Phase Ⅲ Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT04573023 Phase 3 JR-141;Idursulfase;JR-141 or Idursulfase
25 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)
26 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
27 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
28 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
29 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
30 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
31 A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01155778 Phase 1, Phase 2
32 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141;JR-141;JR-141
33 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
34 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
35 Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI Completed NCT00048711 Phase 2 N-acetylgalactosamine 4-sulfatase
36 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
37 A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
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 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
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 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
42 An Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. Completed NCT01474343 Phase 1, Phase 2
43 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
44 Randomized, Single-blind, Active-controlled, Phase 1/2 Study to Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Completed NCT01301898 Phase 1, Phase 2 GC1111_0.5mg/kg;GC1111_1.0mg/kg;Elaprase_0.5mg/kg
45 A Phase 1/2, Multicenter, Open-label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Completed NCT00884949 Phase 1, Phase 2 BMN 110
46 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)
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 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
49 A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
50 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

Search NIH Clinical Center for Mucopolysaccharidoses

Genetic Tests for Mucopolysaccharidoses

Anatomical Context for Mucopolysaccharidoses

MalaCards organs/tissues related to Mucopolysaccharidoses:

40
Spleen, Tongue, Bone Marrow, Liver, Bone, Spinal Cord, Eye

Publications for Mucopolysaccharidoses

Articles related to Mucopolysaccharidoses:

(show top 50) (show all 1303)
# Title Authors PMID Year
1
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 6 61
10094189 1999
2
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). 6
27827379 2017
3
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 6
20852935 2010
4
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 6
21061399 2010
5
Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. 6
20040070 2010
6
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). 6
18407553 2008
7
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 6
18024218 2008
8
Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. 6
12490062 2002
9
Genotype-phenotype correspondence in Sanfilippo syndrome type B. 6
9443875 1998
10
The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPSVII phenotype as the single base deletion model when on the same C57BL/6J mouse background. 61
33604242 2021
11
Nutrition in adult patients with selected lysosomal storage diseases. 61
33589321 2021
12
Early Recurrent Carpal Tunnel Syndrome in Patients with Mucopolysaccharidoses. 61
33758733 2021
13
Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses. 61
32125037 2021
14
Changes in cellular processes occurring in mucopolysaccharidoses as underestimated pathomechanisms of these diseases. 61
31855304 2021
15
Network Analysis Reveals Proteins Associated with Aortic Dilatation in Mucopolysaccharidoses. 61
33475959 2021
16
Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses. 61
33803318 2021
17
Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses. 61
33653197 2021
18
Intraoperative Neurological Monitoring in Lower Limb Surgery for Patients With Mucopolysaccharidoses. 61
33323879 2021
19
Epidemiology of Mucopolysaccharidoses Update. 61
33578874 2021
20
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. 61
33130340 2021
21
Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile. 61
33632309 2021
22
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases. 61
33669444 2021
23
Integrated Intraoperative Optical Coherence Tomography for Pediatric Lamellar Corneal Transplant Surgery. 61
33621974 2021
24
Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth. 61
32895948 2021
25
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions. 61
33503199 2021
26
Failures of Endochondral Ossification in the Mucopolysaccharidoses. 61
33064251 2020
27
Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses. 61
32886284 2020
28
Has resveratrol a potential for mucopolysaccharidosis treatment? 61
32877657 2020
29
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy. 61
33374885 2020
30
Abnormal epiphyseal development in a feline model of Sandhoff disease. 61
32678923 2020
31
Rare genetic diseases affecting skeletal development and oral health disparities among children and adolescents: a pathway analysis. 61
32681533 2020
32
Altered IHH signaling contributes to reduced chondrocyte proliferation in the growth plate of MPS VII mice. 61
33117654 2020
33
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. 61
32749716 2020
34
Treatable lysosomal storage diseases in the advent of disease-specific therapy. 61
33210402 2020
35
Simultaneous Opposition Tendon Transfer with Median Nerve Decompression for Severe Bilateral Carpal Tunnel Syndrome in Adolescents with Hunter Syndrome: A Case Report. 61
33299714 2020
36
Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience. 61
33227921 2020
37
Hearing loss in patients with mucopolysaccharidoses-1 and -6 after hematopoietic cell transplantation: A longitudinal analysis. 61
32579781 2020
38
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. 61
33208168 2020
39
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). 61
33160388 2020
40
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. 61
33203019 2020
41
Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study. 61
33008435 2020
42
Lysosomal sulfatases: a growing family. 61
33120425 2020
43
Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report. 61
33124616 2020
44
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses. 61
32739280 2020
45
Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis-specific screening. 61
32357280 2020
46
Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate. 61
32856704 2020
47
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. 61
32917509 2020
48
Advanced Techniques for Securing Airway in Mucopolysaccharidoses and the Impact of New Therapeutic Approaches. 61
33110718 2020
49
Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease. 61
32775490 2020
50
Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts. 61
32786498 2020

Variations for Mucopolysaccharidoses

ClinVar genetic disease variations for Mucopolysaccharidoses:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HGSNAT NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) SNV Pathogenic 830365 GRCh37: 8:43027493-43027493
GRCh38: 8:43172350-43172350
2 HGSNAT NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) SNV Pathogenic 830366 GRCh37: 8:43052985-43052985
GRCh38: 8:43197842-43197842
3 NAGLU NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) SNV Pathogenic 830367 GRCh37: 17:40695513-40695513
GRCh38: 17:42543495-42543495
4 NAGLU NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) SNV Pathogenic 830368 GRCh37: 17:40689561-40689561
GRCh38: 17:42537543-42537543
5 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) SNV Pathogenic 252961 rs370717845 GRCh37: 8:43016605-43016605
GRCh38: 8:43161462-43161462
6 NAGLU NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) SNV Pathogenic 553204 rs749140168 GRCh37: 17:40693203-40693203
GRCh38: 17:42541185-42541185
7 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) SNV Pathogenic 1566 rs104894595 GRCh37: 17:40695586-40695586
GRCh38: 17:42543568-42543568
8 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) SNV Pathogenic 1565 rs104894594 GRCh37: 17:40695951-40695951
GRCh38: 17:42543933-42543933
9 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) SNV Pathogenic 632282 rs147036053 GRCh37: 17:40695924-40695924
GRCh38: 17:42543906-42543906
10 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV Pathogenic 279891 rs144143780 GRCh37: 17:78184621-78184621
GRCh38: 17:80210822-80210822
11 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV Pathogenic 1237 rs121908285 GRCh37: 8:43037305-43037305
GRCh38: 8:43182162-43182162
12 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) SNV Pathogenic 1562 rs104894592 GRCh37: 17:40693092-40693092
GRCh38: 17:42541074-42541074
13 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) SNV Pathogenic 522823 rs148881970 GRCh37: 17:40695858-40695858
GRCh38: 17:42543840-42543840
14 SGSH NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) SNV Pathogenic 5108 rs104894636 GRCh37: 17:78190860-78190860
GRCh38: 17:80217061-80217061
15 SGSH NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) SNV Pathogenic 5111 rs104894637 GRCh37: 17:78190883-78190883
GRCh38: 17:80217084-80217084
16 SGSH NM_000199.5(SGSH):c.1080del (p.Val361fs) Deletion Pathogenic 518268 rs770947426 GRCh37: 17:78184680-78184680
GRCh38: 17:80210881-80210881
17 CARD14 , SGSH NM_000199.5(SGSH):c.734G>A (p.Arg245His) SNV Pathogenic 5107 rs104894635 GRCh37: 17:78187614-78187614
GRCh38: 17:80213815-80213815
18 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Pathogenic 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
13.58 SLC26A1 SGSH NAGLU IDUA HGSNAT GUSB
2
Show member pathways
12.38 SLC26A1 SGSH NAGLU IDUA GUSB ARSB
3
Show member pathways
12.16 SGSH NAGLU IDUA GUSB ARSB
4 11.54 SGSH NAGLU IDUA HGSNAT GUSB ARSB
5
Show member pathways
10.4 SGSH NAGLU IDUA HGSNAT GUSB ARSB

GO Terms for Mucopolysaccharidoses

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 SGSH NAGLU IDUA GUSB DPP4 ARSB
2 lysosome GO:0005764 9.43 SGSH NAGLU IDUA HGSNAT GUSB ARSB
3 lysosomal lumen GO:0043202 9.02 SGSH NAGLU IDUA GUSB ARSB

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.43 NAGLU IDUA GUSB
2 lysosome organization GO:0007040 9.32 NAGLU ARSB
3 lysosomal transport GO:0007041 9.16 HGSNAT ARSB
4 glycosaminoglycan catabolic process GO:0006027 9.02 SGSH NAGLU IDUA HGSNAT GUSB
5 chondroitin sulfate catabolic process GO:0030207 8.96 IDUA ARSB

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.54 IDUA GUSB DPP4
2 hydrolase activity GO:0016787 9.5 SGSH NAGLU IDUA GUSB DPP4 ARSH
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.33 NAGLU IDUA GUSB
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.32 IDUA GUSB
5 arylsulfatase activity GO:0004065 9.26 ARSH ARSB
6 sulfuric ester hydrolase activity GO:0008484 8.8 SGSH ARSH ARSB

Sources for Mucopolysaccharidoses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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