MCID: MCP033
MIFTS: 38

Mucopolysaccharidoses

Categories: Bone diseases, Metabolic diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidoses

MalaCards integrated aliases for Mucopolysaccharidoses:

Name: Mucopolysaccharidoses 54 73

Classifications:



External Ids:

UMLS 73 C0026703

Summaries for Mucopolysaccharidoses

NINDS : 54 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, type vii and mucopolysaccharidosis-plus syndrome. An important gene associated with Mucopolysaccharidoses is IDUA (Iduronidase, Alpha-L-), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are craniofacial and hearing/vestibular/ear

Wikipedia : 76 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 54)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type vii 32.0 GUSB IDUA
2 mucopolysaccharidosis-plus syndrome 31.8 ARSH GUSB IDUA NAGLU
3 scheie syndrome 31.4 IDUA NAGLU
4 mucopolysaccharidosis iii 30.4 ARSH NAGLU
5 mucopolysaccharidosis, type vi 29.8 ARSH GUSB
6 lysosomal storage disease 29.7 GUSB IDUA NAGLU
7 mucopolysaccharidosis, type iiia 29.7 ARSH NAGLU
8 mucolipidosis ii alpha/beta 29.6 ARSH GUSB
9 mucopolysaccharidoses, unclassified types 12.1
10 mucopolysaccharidosis, type iiid 11.3
11 mucopolysaccharidosis iv 11.3
12 macular dystrophy, corneal 11.3
13 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.0
14 multiple sulfatase deficiency 11.0
15 hurler syndrome 11.0
16 hurler-scheie syndrome 11.0
17 mucolipidoses 10.4
18 carpal tunnel syndrome 10.3
19 mononeuropathy of the median nerve, mild 10.3
20 hydrocephalus 10.1
21 morquio syndrome 10.1
22 mucopolysaccharidosis, type ii 10.0
23 mannosidosis 10.0
24 leukodystrophy 10.0
25 mucopolysaccharidosis, type iiib 10.0
26 mucopolysaccharidosis, type iiic 10.0
27 mucopolysaccharidosis, type iva 10.0
28 mucopolysaccharidosis, type ivb 10.0
29 mucopolysaccharidosis, type ix 10.0
30 mucopolysaccharidosis type 6, slowly progressing 10.0
31 mucopolysaccharidosis type 6, rapidly progressing 10.0
32 otitis media 9.9
33 alpha-methylacetoacetic aciduria 9.9
34 galactosialidosis 9.9
35 3-methylglutaconic aciduria, type iii 9.9
36 retinitis pigmentosa 9.9
37 leber congenital amaurosis 4 9.9
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
39 hematopoietic stem cell transplantation 9.9
40 osteoarthritis 9.9
41 tracheomalacia 9.9
42 bone disease 9.9
43 heart disease 9.9
44 neuronal ceroid lipofuscinosis 9.9
45 communicating hydrocephalus 9.9
46 corneal dystrophy 9.9
47 tracheal stenosis 9.9
48 retinitis 9.9
49 aortic valve insufficiency 9.9
50 connective tissue disease 9.9

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
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 GUSB IDUA NAGLU
2 hearing/vestibular/ear MP:0005377 8.8 GUSB IDUA NAGLU

Drugs & Therapeutics for Mucopolysaccharidoses

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Antibodies Phase 4,Phase 1,Phase 2
4 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1 75607-67-9, 21679-14-1 30751
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
7
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
8 Thymoglobulin Phase 2, Phase 3,Phase 1
9 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
11 Cyclosporins Phase 2, Phase 3,Phase 1
12 lysine Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
14 Hormones Phase 2, Phase 3,Not Applicable
15 Hormone Antagonists Phase 2, Phase 3,Not Applicable
16
Adalimumab Approved Phase 1, Phase 2,Phase 2 331731-18-1 16219006
17
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
18
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
19
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6
20
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1 2921-57-5
21
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
22
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
23
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1 302-25-0
24
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
25 tannic acid Approved Phase 2
26
Mesna Approved, Investigational Phase 2 3375-50-6 598
27
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Melphalan Approved Phase 2 148-82-3 4053 460612
30
Hydroxyurea Approved Phase 2 127-07-1 3657
31
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
32
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
33
Losartan Approved Phase 2 114798-26-4 3961
34
rituximab Approved Phase 2 174722-31-7 10201696
35
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
36
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
37
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
38
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
39
Morphine Approved, Investigational Phase 2 57-27-2 5288826
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
41
Prednisolone hemisuccinate Experimental Phase 2,Phase 1 2920-86-7
42 Tocotrienol Investigational Phase 2 6829-55-6
43 Anti-Inflammatory Agents Phase 1, Phase 2,Phase 2
44 Antirheumatic Agents Phase 1, Phase 2,Phase 2
45 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
46 Dermatologic Agents Phase 1, Phase 2,Phase 2
47 Antifungal Agents Phase 1, Phase 2,Phase 2
48 Anti-Infective Agents Phase 1, Phase 2,Phase 2
49 Antimetabolites Phase 1, Phase 2,Phase 2
50 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show top 50) (show all 162)
# Name Status NCT ID Phase Drugs
1 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
2 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
3 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
4 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
5 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
6 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
7 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
8 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
9 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
10 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
11 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
12 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
13 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
14 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
15 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
16 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
17 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT02230566 Phase 3 UX003
18 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
19 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
20 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
21 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
22 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
23 Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) Recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
24 A Study of JR-141 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03568175 Phase 2, Phase 3 JR-141
25 Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
26 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
27 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
28 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
29 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
30 An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT01856218 Phase 1, Phase 2 UX003
31 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
32 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB) Completed NCT02324049 Phase 1, Phase 2 SBC-103
33 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
34 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2 BMN 110
35 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
36 To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients Completed NCT01301898 Phase 1, Phase 2 GC1111_0.5mg/kg;GC1111_1.0mg/kg;Elaprase_0.5mg/kg
37 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Completed NCT03071341 Phase 1, Phase 2 AGT-181
38 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Completed NCT03053089 Phase 1, Phase 2 AGT-181
39 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
40 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
41 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
42 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]
43 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
44 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
45 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2 Laronidase ERT
46 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
47 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
48 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 Idursulfase IT (1 mg);Idursulfase IT (10 mg);Idursulfase IT (30 mg)
49 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
50 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea

Search NIH Clinical Center for Mucopolysaccharidoses

Genetic Tests for Mucopolysaccharidoses

Anatomical Context for Mucopolysaccharidoses

MalaCards organs/tissues related to Mucopolysaccharidoses:

41
Bone, Skin, Liver, Tongue, Spleen, Brain, Testes

Publications for Mucopolysaccharidoses

Articles related to Mucopolysaccharidoses:

(show top 50) (show all 506)
# Title Authors Year
1
Mucopolysaccharidoses: overview of neuroimaging manifestations. ( 29752520 )
2018
2
Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients. ( 29687523 )
2018
3
Growth impairment in mucopolysaccharidoses. ( 29627275 )
2018
4
Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis. ( 29478001 )
2018
5
Gene therapy for Mucopolysaccharidoses. ( 29295764 )
2018
6
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. ( 29801497 )
2018
7
Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses. ( 29942826 )
2018
8
Awareness of attenuated mucopolysaccharidoses in a pediatric orthopedic clinic. ( 29396137 )
2018
9
Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique. ( 29334993 )
2018
10
Joint manifestations can provide diagnostic clues in Morquio syndrome. Comment on: "Mucopolysaccharidoses seen in adults in rheumatology" by Mitrovic et al., Joint Bone Spine 2017;84:663-70. ( 30025955 )
2018
11
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family. ( 30023302 )
2018
12
Clinical presentation and diagnosis of mucopolysaccharidoses. ( 30057281 )
2018
13
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses. ( 30061628 )
2018
14
False positive screen test for mucopolysaccharidoses in healthy female newborns. ( 30110607 )
2018
15
Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy. ( 30136169 )
2018
16
Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses. ( 30222014 )
2018
17
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses. ( 30296009 )
2018
18
Pain in Mucopolysaccharidoses: Analysis of the Problem and Possible Treatments. ( 30297617 )
2018
19
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI. ( 30409495 )
2018
20
The role of imaging in the skeletal involvement of mucopolysaccharidoses. ( 30442151 )
2018
21
Newborn screening in mucopolysaccharidoses. ( 30442156 )
2018
22
Anesthesiological risks in mucopolysaccharidoses. ( 30442160 )
2018
23
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. ( 30442161 )
2018
24
Mucopolysaccharidoses: early diagnostic signs in infants and children. ( 30442162 )
2018
25
Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. ( 30442163 )
2018
26
The new frame for Mucopolysaccharidoses. ( 30442168 )
2018
27
ENT and mucopolysaccharidoses. ( 30442170 )
2018
28
Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses. ( 30442171 )
2018
29
Orthopaedic challenges for mucopolysaccharidoses. ( 30442173 )
2018
30
Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches. ( 30442177 )
2018
31
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses. ( 30442188 )
2018
32
New treatments for the mucopolysaccharidoses: from pathophysiology to therapy. ( 30442204 )
2018
33
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses. ( 30463562 )
2018
34
Relationship Between Occlusal Features and Enzyme Replacement Therapy in Patients With Mucopolysaccharidoses. ( 29102600 )
2017
35
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach. ( 28257882 )
2017
36
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. ( 28918752 )
2017
37
The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses. ( 28473938 )
2017
38
Practical management of behavioral problems in mucopolysaccharidoses disorders. ( 29170079 )
2017
39
Quantitative neuroimaging in mucopolysaccharidoses clinical trials. ( 29111092 )
2017
40
The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care. ( 28860391 )
2017
41
Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study. ( 29046964 )
2017
42
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study. ( 28070903 )
2017
43
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. ( 28101780 )
2017
44
Phase I and II clinical trials for the mucopolysaccharidoses. ( 29065735 )
2017
45
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. ( 28428354 )
2017
46
Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. ( 29029630 )
2017
47
Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know? ( 28593554 )
2017
48
Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration. ( 28660346 )
2017
49
Epidemiology of mucopolysaccharidoses. ( 28595941 )
2017
50
Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management. ( 28590232 )
2017

Variations for Mucopolysaccharidoses

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
13.35 ARSH EXTL3 GUSB IDUA NAGLU
2
Show member pathways
12.18 GUSB IDUA NAGLU
3
Show member pathways
11.84 GUSB IDUA NAGLU
4 11.22 GUSB IDUA NAGLU
5
Show member pathways
10.1 GUSB IDUA NAGLU

GO Terms for Mucopolysaccharidoses

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.13 GUSB IDUA NAGLU
2 lysosomal lumen GO:0043202 8.8 GUSB IDUA NAGLU

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 GUSB IDUA
2 metabolic process GO:0008152 9.13 GUSB IDUA NAGLU
3 glycosaminoglycan catabolic process GO:0006027 8.8 GUSB IDUA NAGLU

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.26 ARSH GUSB IDUA NAGLU
2 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 GUSB IDUA NAGLU

Sources for Mucopolysaccharidoses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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