Aliases & Classifications for Mucopolysaccharidoses

MalaCards integrated aliases for Mucopolysaccharidoses:

Name: Mucopolysaccharidoses 54 73

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 scheie syndrome. An important gene associated with Mucopolysaccharidoses is IDUA (Iduronidase, Alpha-L-), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Pharmaceutical Solutions and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are integument 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 52)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type vii 31.6 GUSB IDUA
2 scheie syndrome 30.4 IDUA NAGLU
3 mucopolysaccharidosis-plus syndrome 29.8 ARSH GUSB IDUA NAGLU
4 mucopolysaccharidosis type vi 29.2 ARSH GUSB
5 mucolipidosis ii alpha/beta 29.0 ARSH GUSB
6 mucopolysaccharidosis, type iiia 28.8 ARSH NAGLU
7 mucopolysaccharidosis iii 28.0 ARSH NAGLU
8 mucopolysaccharidoses, unclassified types 11.9
9 mucopolysaccharidosis, type iiid 11.2
10 mucopolysaccharidosis iv 11.2
11 macular dystrophy, corneal 11.2
12 multiple sulfatase deficiency 10.8
13 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.8
14 hurler syndrome 10.8
15 hurler-scheie syndrome 10.8
16 mucolipidoses 10.3
17 type i 10.3
18 carpal tunnel syndrome 9.9
19 mononeuropathy of the median nerve, mild 9.9
20 hydrocephalus 9.9
21 mucopolysaccharidosis type 6, slowly progressing 9.8
22 mucopolysaccharidosis type 6, rapidly progressing 9.8
23 mucopolysaccharidosis, type ix 9.8
24 mucopolysaccharidosis, type iiib 9.8
25 mucopolysaccharidosis, type iiic 9.8
26 mucopolysaccharidosis, type iva 9.8
27 mucopolysaccharidosis, type ivb 9.8
28 3-methylglutaconic aciduria, type iii 9.7
29 adenoiditis 9.7
30 encephalopathy 9.7
31 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7
32 tracheomalacia 9.7
33 alpha-methylacetoacetic aciduria 9.7
34 mucopolysaccharidosis, type ii 9.7
35 bone disease 9.7
36 aging 9.7
37 heart disease 9.7
38 neuronal ceroid lipofuscinosis 9.7
39 communicating hydrocephalus 9.7
40 corneal dystrophy 9.7
41 cervicitis 9.7
42 tracheal stenosis 9.7
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
44 retinitis 9.7
45 sleep disorder 9.7
46 neuronitis 9.7
47 mannosidosis 9.7
48 retinal degeneration 9.7
49 zellweger syndrome 9.7
50 galactosialidosis 9.7

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 integument MP:0010771 9.46 GUSB IDUA NAGLU SNCA
2 hearing/vestibular/ear MP:0005377 9.43 GUSB IDUA NAGLU
3 renal/urinary system MP:0005367 9.26 GUSB IDUA NAGLU SNCA
4 skeleton MP:0005390 8.92 SNCA GUSB IDUA NAGLU

Drugs & Therapeutics for Mucopolysaccharidoses

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
2 Antibodies Phase 4,Phase 1,Phase 2
3 Immunoglobulins Phase 4,Phase 1,Phase 2
4
Fludarabine Approved Phase 2, Phase 3,Phase 3 21679-14-1, 75607-67-9 30751
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7 Cyclosporins Phase 2, Phase 3,Phase 1
8 Hormone Antagonists Phase 2, Phase 3,Not Applicable
9 Hormones Phase 2, Phase 3,Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
11 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
12 Antilymphocyte Serum Phase 2, Phase 3
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
Hydroxyurea Approved Phase 2 127-07-1 3657
15
Mesna Approved, Investigational Phase 2 3375-50-6 598
16
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
17
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
18
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
21
Adalimumab Approved Phase 1, Phase 2,Phase 2 331731-18-1 16219006
22
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
23
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
24
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
25
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
26
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 23994
27
rituximab Approved Phase 2 174722-31-7 10201696
28
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
29
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
30
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
31
Morphine Approved, Investigational Phase 2 57-27-2 5288826
32 tannic acid Approved, Nutraceutical Phase 2
33
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
35 Prednisolone acetate Phase 2,Phase 1
36 Alkylating Agents Phase 2
37 Methylprednisolone acetate Phase 2,Phase 1
38 Methylprednisolone Hemisuccinate Phase 2,Phase 1
39 Dermatologic Agents Phase 1, Phase 2,Phase 2
40 Nucleic Acid Synthesis Inhibitors Phase 2
41 Anti-Bacterial Agents Phase 2
42 Antibiotics, Antitubercular Phase 2
43 Prednisolone hemisuccinate Phase 2,Phase 1
44 Prednisolone phosphate Phase 2,Phase 1
45 Anti-Infective Agents Phase 1, Phase 2,Phase 2
46 Antifungal Agents Phase 1, Phase 2,Phase 2
47 Anti-Inflammatory Agents Phase 1, Phase 2,Phase 2
48 Antitubercular Agents Phase 2
49 Antirheumatic Agents Phase 1, Phase 2,Phase 2
50 Antimetabolites Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show top 50) (show all 154)
# 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 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
21 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
22 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Active, not recruiting NCT02432144 Phase 3 UX003
23 Long-Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Patients With Hunter Syndrome That Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3 Idursulfase-IT
24 A Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT03568175 Phase 2, Phase 3 JR-141
25 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
26 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
27 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
28 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
29 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
30 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
31 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
32 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
33 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
34 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
35 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
36 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
37 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]
38 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
39 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
40 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2 Laronidase ERT
41 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
42 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
43 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
44 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)
45 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
46 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
47 Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant Recruiting NCT03488394 Phase 1, Phase 2
48 Gene Therapy in Patients With Mucopolysaccharidosis Disease Recruiting NCT03173521 Phase 1, Phase 2
49 Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
50 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250

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, Bone Marrow

Publications for Mucopolysaccharidoses

Articles related to Mucopolysaccharidoses:

(show top 50) (show all 147)
# 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
Relationship Between Occlusal Features and Enzyme Replacement Therapy in Patients With Mucopolysaccharidoses. ( 29102600 )
2017
11
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach. ( 28257882 )
2017
12
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. ( 28918752 )
2017
13
The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses. ( 28473938 )
2017
14
Practical management of behavioral problems in mucopolysaccharidoses disorders. ( 29170079 )
2017
15
Quantitative neuroimaging in mucopolysaccharidoses clinical trials. ( 29111092 )
2017
16
The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care. ( 28860391 )
2017
17
Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study. ( 29046964 )
2017
18
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study. ( 28070903 )
2017
19
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
20
Phase I and II clinical trials for the mucopolysaccharidoses. ( 29065735 )
2017
21
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. ( 28428354 )
2017
22
Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. ( 29029630 )
2017
23
Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know? ( 28593554 )
2017
24
Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration. ( 28660346 )
2017
25
Epidemiology of mucopolysaccharidoses. ( 28595941 )
2017
26
Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management. ( 28590232 )
2017
27
Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms. ( 29074036 )
2017
28
Treatment of brain disease in the mucopolysaccharidoses. ( 29153844 )
2017
29
Audiological findings in children with mucopolysaccharidoses type i-iv. ( 28223066 )
2017
30
Airway management changes in patients with mucopolysaccharidoses: the role of video laryngoscopy. ( 28593556 )
2017
31
Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses? ( 28904635 )
2017
32
Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature. ( 28506702 )
2017
33
Mucopolysaccharidoses seen in adults in rheumatology. ( 28196778 )
2017
34
Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses. ( 28964643 )
2017
35
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses. ( 29128371 )
2017
36
Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types. ( 28292383 )
2017
37
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree. ( 28649516 )
2017
38
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. ( 28501294 )
2017
39
Mucopolysaccharidoses Causing Valvular Heart Disease: Report and Review of Surgical Management. ( 28421916 )
2017
40
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses. ( 27296532 )
2016
41
Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker. ( 27342998 )
2016
42
Emerging drugs for the treatment of mucopolysaccharidoses. ( 26751109 )
2016
43
Therapeutic Potential of Hydroxypropyl-I^-Cyclodextrin-Based Extract of Medicago sativa in the Treatment of Mucopolysaccharidoses. ( 27220073 )
2016
44
Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses. ( 26672641 )
2016
45
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI. ( 26899310 )
2016
46
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses. ( 27450368 )
2016
47
UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses. ( 27566349 )
2016
48
Cutaneous Manifestations of Mucopolysaccharidoses. ( 27601403 )
2016
49
Unique medical issues in adult patients with mucopolysaccharidoses. ( 27296591 )
2016
50
Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study. ( 26592960 )
2016

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
12.18 GUSB IDUA NAGLU
2
Show member pathways
11.84 GUSB IDUA NAGLU
3 11.22 GUSB IDUA NAGLU
4
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 lysosomal lumen GO:0043202 9.13 GUSB IDUA NAGLU
2 lysosome GO:0005764 8.92 GUSB IDUA NAGLU SNCA

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.26 ARSH GUSB IDUA NAGLU
2 carbohydrate metabolic process GO:0005975 9.16 GUSB IDUA
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 9.46 ARSH GUSB IDUA NAGLU
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GUSB IDUA
3 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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