MPS6
MCID: MCP024
MIFTS: 60

Mucopolysaccharidosis Type Vi (MPS6) malady

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

Aliases & Classifications for Mucopolysaccharidosis Type Vi

Aliases & Descriptions for Mucopolysaccharidosis Type Vi:

Name: Mucopolysaccharidosis Type Vi 54 50 24 25 56 66 13 38
Arylsulfatase B Deficiency 12 50 24 25 56 66
Mucopolysaccharidosis Vi 38 12 25 42 14 69
Maroteaux-Lamy Syndrome 12 24 25 66 52
Mps Vi 50 24 25 66
Mucopolysaccharidosis 6 25 66 29
Arsb Deficiency 50 56 66
Mps6 25 56 66
N-Acetylgalactosamine-4-Sulfatase Deficiency 50 66
Mucopolysaccharidosis Type 6 50 56
Deficiency of N-Acetylgalactosamine-4-Sulfatase 12
N-Acetylgalactosamine 4-Sulfatase Deficiency 56
Mps Vi - Maroteaux-Lamy Syndrome 12
Mucopoly-Saccharidosis Type Vi 50
Maroteaux - Lamy Syndrome 12
Maroteaux Lamy Syndrome 50
Polydystrophic Dwarfism 25
Maroteaux-Lamy Disease 56
Arylsulfatase B 13
Asb Deficiency 56
Mps 6 50
Mpsvi 56

Characteristics:

Orphanet epidemiological data:

56
mucopolysaccharidosis type 6
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Germany),1-9/1000000 (Netherlands),1-9/1000000 (Portugal),<1/1000000 (Sweden),1-9/100000 (Sweden),<1/1000000 (Norway),1-9/100000 (Norway),<1/1000000 (Denmark),1-9/100000 (Denmark),<1/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Canada),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Estonia),<1/1000000 (Colombia),1-9/1000000 (Europe),1-9/100000 (Turkey),<1/1000000 (Poland),1-9/100000 (Saudi Arabia),1-5/10000 (Brazil); Age of onset: Childhood; Age of death: young Adult;

HPO:

32
mucopolysaccharidosis type vi:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 253200
Disease Ontology 12 DOID:12800
MeSH 42 D009087
NCIt 47 C61264
Orphanet 56 ORPHA583
MESH via Orphanet 43 D009087
UMLS via Orphanet 70 C0026709
ICD10 via Orphanet 34 E76.2
UMLS 69 C0026709

Summaries for Mucopolysaccharidosis Type Vi

OMIM : 54 Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of... (253200) more...

MalaCards based summary : Mucopolysaccharidosis Type Vi, also known as arylsulfatase b deficiency, is related to mucopolysaccharidosis type 6, slowly progressing and mucopolysaccharidosis type 6, rapidly progressing, and has symptoms including joint stiffness, short neck and genu valgum. An important gene associated with Mucopolysaccharidosis Type Vi is ARSB (Arylsulfatase B), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Pharmaceutical Solutions and Adalimumab have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye.

Disease Ontology : 12 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.

Genetics Home Reference : 25 Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.

UniProtKB/Swiss-Prot : 66 Mucopolysaccharidosis 6: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed.

Related Diseases for Mucopolysaccharidosis Type Vi

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 Type Vi via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis type 6, slowly progressing 11.0
2 mucopolysaccharidosis type 6, rapidly progressing 11.0
3 multiple sulfatase deficiency 10.9
4 mucopolysaccharidosis 10.7
5 lipid pneumonia 10.1 ARSB ARSH
6 myasthenia gravis 10.0 ARSH GALNS
7 langer mesomelic dwarfism 10.0 ARSH GALNS
8 endocardial fibroelastosis 9.9
9 hydrocephalus 9.9
10 posterior uveal melanoma 9.9 GAA GALNS
11 muscle disorders 9.9 ARSH SUMF1
12 neurosarcoidosis 9.9 ARSB ARSH GALNS
13 quadriplegia 9.8 ARSB ARSH GALNS
14 huntington disease-like 2 9.8 ARSA ARSH GALNS
15 chondrodysplasia punctata, x-linked recessive 9.8 ARSH SUMF1
16 myopia 23, autosomal recessive 9.8 GAA GALNS
17 congenital adrenal hyperplasia 9.8
18 papilledema 9.8
19 empty sella syndrome 9.8
20 mongolian spot 9.8
21 pancreatitis 9.8
22 aneurysm 9.8
23 hypertriglyceridemia 9.8
24 hematopoietic stem cell transplantation 9.8
25 mannosidosis 9.6 ARSA ARSB GAA GALNS
26 mitochondrial dna depletion syndrome 1 9.6 ARSA ARSB ARSH SUMF1
27 ectodermal dysplasia, hypohidrotic, with immune deficiency 9.5 ARSH GAA GALNS SUMF1
28 obesity 9.4 ARSA ARSB ARSH GALNS SUMF1
29 neuronopathy, distal hereditary motor, type iic 9.2 ARSA ARSB ARSH GAA GALNS SUMF1

Graphical network of the top 20 diseases related to Mucopolysaccharidosis Type Vi:



Diseases related to Mucopolysaccharidosis Type Vi

Symptoms & Phenotypes for Mucopolysaccharidosis Type Vi

Symptoms by clinical synopsis from OMIM:

253200

Clinical features from OMIM:

253200

Human phenotypes related to Mucopolysaccharidosis Type Vi:

56 32 (show top 50) (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
2 short neck 56 32 Frequent (79-30%) HP:0000470
3 genu valgum 56 32 Frequent (79-30%) HP:0002857
4 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
5 kyphosis 56 32 Frequent (79-30%) HP:0002808
6 macroglossia 56 32 Occasional (29-5%) HP:0000158
7 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
8 hearing impairment 56 32 Frequent (79-30%) HP:0000365
9 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
10 splenomegaly 56 32 Frequent (79-30%) HP:0001744
11 visual impairment 56 32 Occasional (29-5%) HP:0000505
12 mucopolysacchariduria 56 32 Very frequent (99-80%) HP:0008155
13 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
14 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
15 sinusitis 56 32 Very frequent (99-80%) HP:0000246
16 broad ribs 56 32 Frequent (79-30%) HP:0000885
17 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
18 abnormality of the heart valves 56 32 Occasional (29-5%) HP:0001654
19 epiphyseal dysplasia 56 32 Very frequent (99-80%) HP:0002656
20 recurrent upper respiratory tract infections 56 32 Very frequent (99-80%) HP:0002788
21 ovoid vertebral bodies 56 32 Frequent (79-30%) HP:0003300
22 disproportionate short-trunk short stature 56 32 Very frequent (99-80%) HP:0003521
23 opacification of the corneal stroma 56 32 Very frequent (99-80%) HP:0007759
24 thick nasal alae 56 32 Very frequent (99-80%) HP:0009928
25 hernia 56 32 Frequent (79-30%) HP:0100790
26 macrocephaly 32 HP:0000256
27 hydrocephalus 32 HP:0000238
28 inguinal hernia 32 HP:0000023
29 hip dysplasia 32 HP:0001385
30 hepatomegaly 32 HP:0002240
31 depressed nasal bridge 32 HP:0005280
32 umbilical hernia 32 HP:0001537
33 dysostosis multiplex 32 HP:0000943
34 malformation of the heart and great vessels 56 Occasional (29-5%)
35 dolichocephaly 32 HP:0000268
36 cardiomyopathy 32 HP:0001638
37 hypoplastic iliac wing 32 HP:0002866
38 glaucoma 32 HP:0000501
39 split hand 32 HP:0001171
40 hypoplasia of the odontoid process 32 HP:0003311
41 lumbar hyperlordosis 32 HP:0002938
42 hirsutism 32 HP:0001007
43 flared iliac wings 32 HP:0002869
44 metaphyseal widening 32 HP:0003016
45 metaphyseal irregularity 32 HP:0003025
46 cervical myelopathy 32 HP:0002318
47 hypoplastic acetabulae 32 HP:0003274
48 prominent sternum 32 HP:0000884
49 dermatan sulfate excretion in urine 32 HP:0008301
50 anterior wedging of l1 32 HP:0008432

UMLS symptoms related to Mucopolysaccharidosis Type Vi:


joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis Type Vi

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

(show all 50)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2
Adalimumab Approved Phase 2, Phase 3 331731-18-1 16219006
3 Antirheumatic Agents Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Busulfan Approved, Investigational Phase 2 55-98-1 2478
10
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
11
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
12
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
13
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
14
rituximab Approved Phase 2 174722-31-7 10201696
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Thiotepa Approved Phase 2 52-24-4 5453
17
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
18
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
19
Mycophenolic acid Approved Phase 2 24280-93-1 446541
20
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Mesna Approved Phase 2 3375-50-6 598
23
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
24
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
25 tannic acid Approved, Nutraceutical Phase 2
26 Prednisolone acetate Phase 2
27 Alkylating Agents Phase 2
28 Prednisolone hemisuccinate Phase 2
29 Prednisolone phosphate Phase 2
30 Immunosuppressive Agents Phase 2
31 Antilymphocyte Serum Phase 2
32 Methylprednisolone acetate Phase 2
33 Methylprednisolone Hemisuccinate Phase 2
34 Antineoplastic Agents, Alkylating Phase 2
35 N-monoacetylcystine Phase 2
36 Thioctic Acid Phase 2
37 Tocopherols Phase 2
38 Tocotrienols Phase 2
39 Vitamins Phase 2
40 Antimetabolites Phase 2
41 Antimetabolites, Antineoplastic Phase 2
42 Dermatologic Agents Phase 2
43 Anti-Bacterial Agents Phase 2
44 Anti-Infective Agents Phase 2
45 Antifungal Agents Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Calcineurin Inhibitors Phase 2
48 Tocopherol Nutraceutical Phase 2
49 Tocotrienol Nutraceutical Phase 2
50 Alpha-lipoic Acid Nutraceutical Phase 2

Interventional clinical trials:

(show all 29)
id Name Status NCT ID Phase
1 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4
2 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3
3 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3
4 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Recruiting NCT02437253 Phase 2, Phase 3
5 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3
6 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
7 Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI Completed NCT00048711 Phase 2
8 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
9 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
10 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
11 Gene Therapy in Patients With Mucopolysaccharidosis Disease Not yet recruiting NCT03173521 Phase 1, Phase 2
12 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
13 Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI Completed NCT00048620 Phase 1
14 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
15 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
16 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome Completed NCT01961518
17 Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02 Completed NCT01387854
18 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
19 Biomarker for Maroteaux-Lamy Disease Recruiting NCT01458613
20 Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome Recruiting NCT02156674
21 Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Recruiting NCT00214773
22 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
23 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014
24 New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis Recruiting NCT02583152
25 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Active, not recruiting NCT01586871
26 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
27 Mucopolysaccharidosis (MPS) Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia Combined With Pediatric ENT Surgery or Bronchoscopy Not yet recruiting NCT03017677
28 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
29 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015

Search NIH Clinical Center for Mucopolysaccharidosis Type Vi

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Type Vi cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Type Vi:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Hemacord
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Type Vi:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD PMIDs: 9828244

Cochrane evidence based reviews: mucopolysaccharidosis vi

Genetic Tests for Mucopolysaccharidosis Type Vi

Genetic tests related to Mucopolysaccharidosis Type Vi:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi 29 24 ARSB

Anatomical Context for Mucopolysaccharidosis Type Vi

MalaCards organs/tissues related to Mucopolysaccharidosis Type Vi:

39
Heart, Bone, Eye, Bone Marrow, Testes

Publications for Mucopolysaccharidosis Type Vi

Articles related to Mucopolysaccharidosis Type Vi:

(show top 50) (show all 77)
id Title Authors Year
1
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). ( 27826022 )
2017
2
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. ( 27797586 )
2017
3
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. ( 27164636 )
2016
4
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. ( 26943923 )
2016
5
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI. ( 25797215 )
2015
6
Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. ( 25750448 )
2015
7
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. ( 26609033 )
2015
8
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. ( 26615596 )
2015
9
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. ( 24677745 )
2014
10
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. ( 25060283 )
2014
11
Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. ( 24964042 )
2014
12
Anesthetic Challenges in an Adult with Mucopolysaccharidosis Type VI. ( 25612205 )
2014
13
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. ( 25100895 )
2014
14
New insights in mucopolysaccharidosis type VI: Neurological perspective. ( 23972383 )
2013
15
Up to five years experience with 11 mucopolysaccharidosis type VI patients. ( 23523338 )
2013
16
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. ( 23458163 )
2013
17
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23949968 )
2013
18
Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. ( 23311386 )
2013
19
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. ( 24373060 )
2013
20
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. ( 23974652 )
2013
21
Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: identification of a novel mutation in the arylsulfatase B gene. ( 23855929 )
2013
22
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. ( 23557332 )
2013
23
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. ( 22704873 )
2013
24
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. ( 23633437 )
2013
25
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. ( 23194248 )
2013
26
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23192728 )
2013
27
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. ( 23826140 )
2013
28
Teaching NeuroImages: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in a previously undiagnosed infant. ( 22351802 )
2012
29
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. ( 22336888 )
2012
30
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. ( 22133300 )
2012
31
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. ( 22299127 )
2012
32
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation. ( 22495825 )
2012
33
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 21737154 )
2012
34
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. ( 22684871 )
2012
35
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. ( 23023219 )
2012
36
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. ( 22329490 )
2012
37
Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations. ( 22869947 )
2012
38
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. ( 21514195 )
2011
39
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. ( 21917494 )
2011
40
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. ( 21996138 )
2011
41
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. ( 21930407 )
2011
42
Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. ( 21887218 )
2011
43
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. ( 21638759 )
2011
44
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. ( 20143913 )
2010
45
Anesthesia in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 20976507 )
2010
46
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation. ( 20800524 )
2010
47
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]). ( 18250117 )
2008
48
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. ( 18338089 )
2008
49
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI. ( 18248830 )
2008
50
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. ( 18486607 )
2008

Variations for Mucopolysaccharidosis Type Vi

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Type Vi:

66 (show all 29)
id Symbol AA change Variation ID SNP ID
1 ARSB p.Thr92Met VAR_007294 rs751010538
2 ARSB p.Arg95Gln VAR_007295 rs118203942
3 ARSB p.Cys117Arg VAR_007296 rs118203939
4 ARSB p.Gly137Val VAR_007297 rs118203938
5 ARSB p.Arg152Trp VAR_007298
6 ARSB p.Arg160Gln VAR_007299
7 ARSB p.Tyr210Cys VAR_007300 rs118203943
8 ARSB p.Leu236Pro VAR_007301 rs118203940
9 ARSB p.Gly302Arg VAR_007302 rs779378413
10 ARSB p.His393Pro VAR_007304 rs118203944
11 ARSB p.Cys405Tyr VAR_007305 rs118203941
12 ARSB p.Leu498Pro VAR_007306 rs774358117
13 ARSB p.Ser65Phe VAR_019017
14 ARSB p.Pro116His VAR_019019 rs775780931
15 ARSB p.Met142Ile VAR_019020
16 ARSB p.Gly144Arg VAR_019021 rs746206847
17 ARSB p.Trp146Leu VAR_019022
18 ARSB p.Trp146Arg VAR_019023
19 ARSB p.Trp146Ser VAR_019024
20 ARSB p.Cys192Arg VAR_019025
21 ARSB p.Gln239Arg VAR_019026
22 ARSB p.Trp312Cys VAR_019027
23 ARSB p.Arg315Gln VAR_019028 rs727503809
24 ARSB p.Leu321Pro VAR_019029
25 ARSB p.Ser384Asn VAR_019030 rs25414
26 ARSB p.Phe399Leu VAR_019031 rs200793396
27 ARSB p.Arg484Gly VAR_019032 rs201101343
28 ARSB p.Cys521Tyr VAR_019033
29 ARSB p.Pro531Arg VAR_019034

ClinVar genetic disease variations for Mucopolysaccharidosis Type Vi:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARSB NM_000046.3(ARSB): c.1214G> A (p.Cys405Tyr) single nucleotide variant Pathogenic rs118203941 GRCh37 Chromosome 5, 78077797: 78077797
2 ARSB NM_000046.3(ARSB): c.284G> A (p.Arg95Gln) single nucleotide variant Pathogenic rs118203942 GRCh37 Chromosome 5, 78280788: 78280788
3 ARSB NM_000046.3(ARSB): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs118203943 GRCh37 Chromosome 5, 78260300: 78260300
4 ARSB NM_000046.3(ARSB): c.1178A> C (p.His393Pro) single nucleotide variant Pathogenic rs118203944 GRCh37 Chromosome 5, 78135214: 78135214
5 ARSB NM_000046.3(ARSB): c.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh37 Chromosome 5, 78135250: 78135250
6 ARSB NM_000046.3(ARSB): c.1143-8T> G single nucleotide variant Pathogenic rs431905496 GRCh37 Chromosome 5, 78135257: 78135257
7 ARSB NM_000046.3: c.384_386delCTC deletion Pathogenic
8 ARSB NM_000046.3(ARSB): c.1450A> G (p.Arg484Gly) single nucleotide variant Likely pathogenic rs201101343 GRCh37 Chromosome 5, 78076372: 78076372
9 ARSB NM_000046.3(ARSB): c.290A> G (p.Gln97Arg) single nucleotide variant Likely pathogenic rs886039914 GRCh38 Chromosome 5, 78984959: 78984959

Expression for Mucopolysaccharidosis Type Vi

Search GEO for disease gene expression data for Mucopolysaccharidosis Type Vi.

Pathways for Mucopolysaccharidosis Type Vi

GO Terms for Mucopolysaccharidosis Type Vi

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.46 ARSA ARSB GAA GALNS
2 azurophil granule lumen GO:0035578 9.43 ARSA ARSB GALNS
3 endoplasmic reticulum lumen GO:0005788 9.26 ARSA ARSB ARSH SUMF1
4 lysosomal lumen GO:0043202 8.92 ARSA ARSB GAA GALNS

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.62 ARSA ARSB GAA GALNS
2 central nervous system development GO:0007417 9.48 ARSA ARSB
3 response to nutrient GO:0007584 9.46 ARSA ARSB
4 post-translational protein modification GO:0043687 9.46 ARSA ARSB ARSH SUMF1
5 response to estrogen GO:0043627 9.43 ARSA ARSB
6 lysosome organization GO:0007040 9.4 ARSB GAA
7 response to pH GO:0009268 9.37 ARSA ARSB
8 metabolic process GO:0008152 9.35 ARSA ARSB ARSH GAA GALNS
9 response to methylmercury GO:0051597 9.26 ARSA ARSB
10 glycosphingolipid metabolic process GO:0006687 8.92 ARSA ARSB ARSH SUMF1

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

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.72 ARSA ARSB ARSH GALNS SUMF1
2 hydrolase activity GO:0016787 9.65 ARSA ARSB ARSH GAA GALNS
3 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 ARSB GALNS
4 arylsulfatase activity GO:0004065 9.13 ARSA ARSB ARSH
5 sulfuric ester hydrolase activity GO:0008484 8.92 ARSA ARSB ARSH GALNS

Sources for Mucopolysaccharidosis Type Vi

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
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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