MPSPS
MCID: MCP010
MIFTS: 60

Mucopolysaccharidosis (MPSPS) malady

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

Aliases & Classifications for Mucopolysaccharidosis

Aliases & Descriptions for Mucopolysaccharidosis:

Name: Mucopolysaccharidosis 12 71 50 52 14
Mucopolysaccharidosis-Plus Syndrome 54 66 29
Mucopolysaccharidoses 42 69
Mpsps 66
Mps 50

Classifications:



External Ids:

Disease Ontology 12 DOID:12798
ICD10 33 E76.3
ICD9CM 35 277.5
MeSH 42 D009083
NCIt 47 C61259
MedGen 40 CN239958
UMLS 69 C0026703

Summaries for Mucopolysaccharidosis

NIH Rare Diseases : 50 mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). as a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. associated signs and symptoms and the severity of the condition vary significantly by form. in general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. as the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. the underlying genetic cause varies by form. most cases are inherited in an autosomal dominant manner, although one specific form (type ii) follows an x-linked pattern of inheritance. treatment is based on the signs and symptoms present in each person. for more specific information about the various forms of mucopolysaccharidosis, please click on the links below:mucopolysaccharidosis, type imucopolysaccharidosis, type iimucopolysaccharidosis, type iiimucopolysaccharidosis, type ivmucopolysaccharidosis, type vimucopolysaccharidosis, type viimucopolysaccharidosis, type ix last updated: 5/24/2016

MalaCards based summary : Mucopolysaccharidosis, also known as mucopolysaccharidosis-plus syndrome, is related to mannosidosis and mucopolysaccharidosis is. An important gene associated with Mucopolysaccharidosis is VPS33A (VPS33A, CORVET/HOPS Core Subunit), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Aldurazyme and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

UniProtKB/Swiss-Prot : 66 Mucopolysaccharidosis-plus syndrome: A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

Wikipedia : 71 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Related Diseases for Mucopolysaccharidosis

Diseases in the Mucopolysaccharidosis family:

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

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

(show top 50) (show all 126)
id Related Disease Score Top Affiliating Genes
1 mannosidosis 28.1 ARSB GALNS GUSB HEXA HGSNAT IDS
2 mucopolysaccharidosis is 12.5
3 mucopolysaccharidosis ii 12.4
4 mucopolysaccharidosis iii 12.4
5 mucopolysaccharidosis vii 12.3
6 mucopolysaccharidosis iv 12.3
7 mucopolysaccharidosis type vi 12.3
8 mucopolysaccharidosis ih 12.3
9 mucopolysaccharidosis ih/s 12.3
10 mucopolysaccharidosis type iiib 12.3
11 mucopolysaccharidosis iva 12.2
12 mucopolysaccharidosis type ivb 12.2
13 mucopolysaccharidosis type iiic 12.2
14 mucopolysaccharidosis type iiid 12.2
15 mucopolysaccharidosis type ix 12.2
16 mucopolysaccharidosis type 2, attenuated form 11.9
17 mucopolysaccharidosis type 2, severe form 11.9
18 mucopolysaccharidosis type 6, slowly progressing 11.7
19 mucopolysaccharidosis type 6, rapidly progressing 11.7
20 mucopolysaccharidisis type iiia 11.7
21 multiple sulfatase deficiency 10.9
22 winchester syndrome 10.7
23 metachromatic leukodystrophy 10.7
24 hydrops fetalis, nonimmune 10.7
25 mucopolysaccharidoses 10.7
26 osteochondrodysplasia 10.7
27 mccallum macadam johnston syndrome 10.7
28 spondyloepiphyseal dysplasia tarda 10.7
29 spondyloepiphyseal dysplasia with congenital joint dislocations 10.7
30 mental retardation, autosomal recessive 43 10.2 GALNS GUSB
31 charge syndrome 10.1 GALNS GUSB IDUA
32 langer mesomelic dwarfism 10.1 ARSH GALNS
33 hematopoietic stem cell transplantation 10.1
34 ectodermal dysplasia, hypohidrotic, with immune deficiency 10.1 ARSH GALNS IDS
35 intracranial structure hemangioma 10.1 HGSNAT NAGLU SGSH
36 neuronopathy, distal hereditary motor, type iic 10.1 ARSB ARSH GALNS
37 lipid pneumonia 10.1 ARSB ARSH IDUA
38 mitochondrial dna depletion syndrome 6 10.0 APRT NAGLU
39 neuronitis 10.0
40 partial motor epilepsy 10.0 GALNS HEXA
41 huntington disease-like 2 10.0 APRT ARSH GALNS
42 hydrops fetalis 10.0
43 myasthenia gravis 10.0 APRT ARSH GALNS
44 retinitis 9.9
45 lysosomal storage disease 9.9
46 multifocal motor neuropathy 9.9 HEXA HYAL1
47 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 ARSH GUSB
48 cervicitis 9.9
49 posterior uveal melanoma 9.9 GALNS HEXA IDUA
50 thiamine metabolism dysfunction syndrome 4 9.9 ARSH HGSNAT NAGLU SGSH

Graphical network of the top 20 diseases related to Mucopolysaccharidosis:



Diseases related to Mucopolysaccharidosis

Symptoms & Phenotypes for Mucopolysaccharidosis

Clinical features from OMIM:

617303

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.66 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.66 IDS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.66 ARSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 ARSB IDS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.66 GALNS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.66 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.66 GALNS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.66 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.66 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.66 IDS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 ARSB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 ARSB IDS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.66 IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.66 GALNS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.66 ARSB GALNS IDS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.66 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 APRT ARSB GUSB HEXA HGSNAT IDS
2 cellular MP:0005384 10.1 ARSB GALNS GUSB HGSNAT IDS IDUA
3 homeostasis/metabolism MP:0005376 10.06 APRT ARSB GALNS GUSB HEXA HGSNAT
4 hematopoietic system MP:0005397 10.03 APRT ARSB GUSB HGSNAT IDUA NAGLU
5 craniofacial MP:0005382 10.02 ARSB GUSB HEXA IDS IDUA NAGLU
6 integument MP:0010771 9.91 APRT GUSB IDS IDUA NAGLU SGSH
7 hearing/vestibular/ear MP:0005377 9.85 ARSB GUSB HEXA IDUA NAGLU
8 renal/urinary system MP:0005367 9.85 APRT ARSB GALNS GUSB HEXA HGSNAT
9 liver/biliary system MP:0005370 9.73 HYAL1 IDUA NAGLU SGSH HEXA HGSNAT
10 limbs/digits/tail MP:0005371 9.72 ARSB GUSB HEXA IDS IDUA
11 skeleton MP:0005390 9.61 ARSB GALNS GUSB HEXA HYAL1 IDS
12 vision/eye MP:0005391 9.23 NAGLU SGSH VPS33A ARSB GALNS HEXA

Drugs & Therapeutics for Mucopolysaccharidosis

FDA approved drugs:

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

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

(show top 50) (show all 75)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 1,Phase 2
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
4
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
7
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
8
Adalimumab Approved Phase 2, Phase 3,Phase 1 331731-18-1 16219006
9 Antilymphocyte Serum Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
11 Hormone Antagonists Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
14 Antirheumatic Agents Phase 2, Phase 3,Phase 1
15 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
16
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
17
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
18
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
20
alemtuzumab Approved, Investigational Phase 2 216503-57-0
21
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
22
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
23
Hydroxyurea Approved Phase 2 127-07-1 3657
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
26
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
27
rituximab Approved Phase 2 174722-31-7 10201696
28
Thiotepa Approved Phase 2 52-24-4 5453
29
Acetaminophen Approved Phase 2 103-90-2 1983
30
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
31
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
32
Promethazine Approved Phase 2 60-87-7 4927
33
Vidarabine Approved Phase 2 24356-66-9 32326 21704
34
Zinc Approved Phase 1, Phase 2 7440-66-6 32051 23994
35
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
36
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
37
Mesna Approved Phase 2 3375-50-6 598
38
Morphine Approved, Investigational Phase 2 57-27-2 5288826
39 tannic acid Approved, Nutraceutical Phase 2
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
41 Antifungal Agents Phase 1, Phase 2
42 Anti-Infective Agents Phase 1, Phase 2
43 Antimetabolites Phase 1, Phase 2
44 Antimetabolites, Antineoplastic Phase 1, Phase 2
45 Calcineurin Inhibitors Phase 1, Phase 2
46 Dermatologic Agents Phase 1, Phase 2
47 Alkylating Agents Phase 2
48 Antineoplastic Agents, Alkylating Phase 2
49 Methylprednisolone acetate Phase 2
50 Methylprednisolone Hemisuccinate Phase 2

Interventional clinical trials:

(show top 50) (show all 135)
id Name Status NCT ID Phase
1 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
2 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4
3 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4
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 Recruiting NCT02455622 Phase 4
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
9 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3
10 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3
11 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3
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
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 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
16 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
17 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3
18 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
19 A Phase 3 Study of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 Completed NCT02230566 Phase 3
20 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
21 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Recruiting NCT02437253 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
23 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Active, not recruiting NCT02055118 Phase 2, Phase 3
24 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
25 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3
26 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
27 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, 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 Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2
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 MPS 7 Completed NCT01856218 Phase 1, Phase 2
31 To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients Completed NCT01301898 Phase 1, Phase 2
32 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2
33 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
34 Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI Completed NCT00048711 Phase 2
35 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
36 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
37 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2
38 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
39 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
40 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
41 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
42 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
43 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Recruiting NCT03128593 Phase 1, Phase 2
44 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2
45 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
46 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
47 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
48 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Active, not recruiting NCT03053089 Phase 1, Phase 2
49 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2
50 A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Active, not recruiting NCT02618512 Phase 1, Phase 2

Search NIH Clinical Center for Mucopolysaccharidosis

Cochrane evidence based reviews: mucopolysaccharidoses

Genetic Tests for Mucopolysaccharidosis

Genetic tests related to Mucopolysaccharidosis:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis 29

Anatomical Context for Mucopolysaccharidosis

MalaCards organs/tissues related to Mucopolysaccharidosis:

39
Bone, Brain, Skin, Bone Marrow, Liver, Testes, Spinal Cord

Publications for Mucopolysaccharidosis

Articles related to Mucopolysaccharidosis:

(show top 50) (show all 1164)
id Title Authors Year
1
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). ( 27826022 )
2017
2
Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience. ( 28054207 )
2017
3
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). ( 28457718 )
2017
4
KlA1ver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). ( 27827379 )
2017
5
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. ( 28207863 )
2017
6
Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels. ( 28487826 )
2017
7
Intranasal AAV Mediated Gene Delivery and Expression of Human Iduronidase in the CNS: A Non-invasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I. ( 28462595 )
2017
8
Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model. ( 28352175 )
2017
9
Awareness of Mucopolysaccharidosis in an Otorhinolaryngologic Clinic. ( 28298256 )
2017
10
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II. ( 28334757 )
2017
11
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID. ( 28334745 )
2017
12
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. ( 28207930 )
2017
13
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. ( 28243577 )
2017
14
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. ( 27814620 )
2017
15
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study. ( 28315965 )
2017
16
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. ( 28211988 )
2017
17
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice By CNS-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer. ( 28478695 )
2017
18
The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls. ( 28294991 )
2017
19
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. ( 27797586 )
2017
20
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model. ( 28513549 )
2017
21
A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study. ( 28489793 )
2017
22
Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB. ( 28306536 )
2017
23
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. ( 28077157 )
2017
24
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS. ( 28092090 )
2017
25
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis. ( 28410878 )
2017
26
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 28516041 )
2017
27
IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis. ( 27144408 )
2016
28
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. ( 27164636 )
2016
29
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. ( 26943923 )
2016
30
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). ( 27610627 )
2016
31
Mucopolysaccharidosis Type II-An Unexpected "3 in 1" Family. ( 27178643 )
2016
32
Differential expression of microRNAs from miR-17 family in the cerebellum of mucopolysaccharidosis type I mice. ( 27720939 )
2016
33
Anaesthetic implications of the changing management of patients with mucopolysaccharidosis. ( 27832551 )
2016
34
Emergency bronchoscopy for foreign-body aspiration in a child with type I mucopolysaccharidosis: a challenging airway management experience. ( 27146659 )
2016
35
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice. ( 27510804 )
2016
36
Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome). ( 27855521 )
2016
37
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II. ( 27883178 )
2016
38
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy. ( 28011272 )
2016
39
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. ( 27349225 )
2016
40
Cost-Effectiveness of the Quantification of Enzymatic Activity in Leukocytes in Comparison to Its Nonrealization for a Rare Disease in Latin America: The Case of Mucopolysaccharidosis Type II in Colombia. ( 27986197 )
2016
41
Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease. ( 27105565 )
2016
42
Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis. ( 27097935 )
2016
43
Mucopolysaccharidosis IIIA presenting with hyperckemia in a child. ( 27600994 )
2016
44
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice. ( 27106513 )
2016
45
Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children. ( 27406185 )
2016
46
Mucopolysaccharidosis VI in cats - clarification regarding genetic testing. ( 27370326 )
2016
47
Ultrasonography for diagnosis and follow-up of carpal tunnel syndrome in mucopolysaccharidosis. ( 27189664 )
2016
48
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences. ( 27536552 )
2016
49
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. ( 27910891 )
2016
50
Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI. ( 27114913 )
2016

Variations for Mucopolysaccharidosis

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis:

66
id Symbol AA change Variation ID SNP ID
1 VPS33A p.Arg498Trp VAR_078032

ClinVar genetic disease variations for Mucopolysaccharidosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VPS33A NM_022916.4(VPS33A): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs767748011 GRCh37 Chromosome 12, 122717464: 122717464

Expression for Mucopolysaccharidosis

Search GEO for disease gene expression data for Mucopolysaccharidosis.

Pathways for Mucopolysaccharidosis

Pathways related to Mucopolysaccharidosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 APRT ARSB ARSH GALNS GNS GUSB
2
Show member pathways
12.66 ARSB GNS GUSB HEXA HYAL1 IDS
3
Show member pathways
12.27 ARSB GUSB HEXA HYAL1 IDS IDUA
4
Show member pathways
11.95 ARSB ARSH HEXA
5 11.45 ARSB GALNS GNS GUSB HEXA HGSNAT
6
Show member pathways
11 ARSB GALNS GNS GUSB HEXA HGSNAT

GO Terms for Mucopolysaccharidosis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 APRT ARSB GALNS GNS GUSB HEXA
2 lysosome GO:0005764 9.7 ARSB GALNS GNS GUSB HEXA HYAL1
3 ficolin-1-rich granule lumen GO:1904813 9.5 ARSB GNS GUSB
4 azurophil granule lumen GO:0035578 9.46 ARSB GALNS GNS GUSB
5 lysosomal lumen GO:0043202 9.32 ARSB GALNS GNS GUSB HEXA HYAL1

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 APRT ARSB GALNS GNS GUSB HGSNAT
2 carbohydrate metabolic process GO:0005975 9.73 GUSB HEXA HYAL1 IDUA
3 metabolic process GO:0008152 9.7 ARSB ARSH GALNS GNS GUSB HEXA
4 glycosphingolipid metabolic process GO:0006687 9.58 ARSB ARSH HEXA
5 chondroitin sulfate catabolic process GO:0030207 9.55 ARSB HEXA HYAL1 IDS IDUA
6 hyaluronan catabolic process GO:0030214 9.5 GUSB HEXA HYAL1
7 lysosome organization GO:0007040 9.48 ARSB NAGLU
8 lysosomal transport GO:0007041 9.46 ARSB HGSNAT
9 keratan sulfate catabolic process GO:0042340 9.43 GALNS GNS HEXA
10 glycosaminoglycan catabolic process GO:0006027 9.17 GNS GUSB HGSNAT IDS IDUA NAGLU

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ARSB ARSH GALNS GNS GUSB HEXA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.55 GUSB HEXA HYAL1 IDUA NAGLU
3 arylsulfatase activity GO:0004065 9.32 ARSB ARSH
4 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 ARSB GALNS
5 sulfuric ester hydrolase activity GO:0008484 9.1 ARSB ARSH GALNS GNS IDS SGSH

Sources for Mucopolysaccharidosis

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