MCID: MCP024
MIFTS: 61

Mucopolysaccharidosis Type Vi

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

Aliases & Classifications for Mucopolysaccharidosis Type Vi

MalaCards integrated aliases for Mucopolysaccharidosis Type Vi:

Name: Mucopolysaccharidosis Type Vi 53 49 24 55 71 36 28 13 37
Arylsulfatase B Deficiency 53 12 49 24 55 71
Mucopolysaccharidosis Vi 37 12 24 41 14 69
Maroteaux-Lamy Syndrome 53 12 72 24 71 51
Mps Vi 53 72 49 24 71
Arsb Deficiency 53 49 55 71
Mps6 53 24 55 71
N-Acetylgalactosamine-4-Sulfatase Deficiency 53 49 71
Mucopolysaccharidosis Type 6 49 55
Mucopolysaccharidosis 6 24 71
Deficiency of N-Acetylgalactosamine-4-Sulfatase 12
N-Acetylgalactosamine 4-Sulfatase Deficiency 55
Mps Vi - Maroteaux-Lamy Syndrome 12
Mucopoly-Saccharidosis Type Vi 49
Maroteaux - Lamy Syndrome 12
Maroteaux Lamy Syndrome 49
Polydystrophic Dwarfism 24
Maroteaux-Lamy Disease 55
Arylsulfatase B 13
Asb Deficiency 55
Mps 6 49
Mpsvi 55

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
survival to 20 years in severe form
mild to severe forms of disease
prenatal diagnosis available
incidence ranges from 1 in 238,095 to 1 in 300,000 births


HPO:

31
mucopolysaccharidosis type vi:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis Type Vi

OMIM : 53 Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004). (253200)

MalaCards based summary : Mucopolysaccharidosis Type Vi, also known as arylsulfatase b deficiency, is related to mucopolysaccharidosis-plus syndrome and multiple sulfatase deficiency, 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 Glycosaminoglycan degradation and Lysosome. The drugs Pharmaceutical Solutions and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and bone marrow.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Mucopolysaccharidosis.

Genetics Home Reference : 24 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.

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

Related Diseases for Mucopolysaccharidosis Type Vi

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
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 27)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis-plus syndrome 30.7 ARSB ARSH GALNS
2 multiple sulfatase deficiency 29.5 ARSA ARSB ARSH GALNS SUMF1
3 hydrocephalus 29.2 ARSB SUMF1
4 mucopolysaccharidosis type 6, slowly progressing 11.1
5 mucopolysaccharidosis type 6, rapidly progressing 11.1
6 gastric dilatation 10.1 ARSB ARSH
7 endocardial fibroelastosis 10.0
8 mucopolysaccharidosis, type iva 9.9 ARSH GALNS
9 mucopolysaccharidosis iv 9.9 ARSH GALNS
10 blood group, i system 9.9
11 hypertriglyceridemia, familial 9.9
12 lipoid congenital adrenal hyperplasia 9.9
13 diabetes mellitus, ketosis-prone 9.9
14 hypertriglyceridemia, transient infantile 9.9
15 hematopoietic stem cell transplantation 9.9
16 papilledema 9.9
17 empty sella syndrome 9.9
18 mongolian spot 9.9
19 pancreatitis 9.9
20 tièche-jadassohn nevus 9.9
21 aneurysm 9.9
22 ichthyosis, x-linked 9.7 ARSH SUMF1
23 inherited metabolic disorder 9.7 ARSA GALNS
24 mucopolysaccharidosis iii 9.6 ARSH SUMF1
25 mucopolysaccharidosis, type ii 9.6 ARSA ARSH GALNS
26 metachromatic leukodystrophy 9.1 ARSA ARSB ARSH SUMF1
27 lysosomal storage disease 9.0 ARSA ARSB 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 via clinical synopsis from OMIM:

53
Skeletal Limbs:
joint stiffness
genu valgum
epiphyseal dysplasia
broad, irregular metaphyses

Neurologic Central Nervous System:
hydrocephalus
normal intelligence
cervical myelopathy

Head And Neck Mouth:
macroglossia
thickened lips

Abdomen Spleen:
splenomegaly

Skeletal:
dysostosis multiplex

Skeletal Spine:
ovoid vertebral bodies
odontoid hypoplasia
prominent lumbar lordosis
anterior wedging of l1 and l2

Head And Neck Nose:
low nasal bridge

Neurologic Peripheral Nervous System:
carpal tunnel syndrome

Respiratory Nasopharynx:
frequent upper respiratory infections

Cardiovascular Heart:
infantile cardiomyopathy
valvular heart disease (aortic and mitral valves)

Growth Other:
growth arrest at 2-4 years of age

Skin Nails Hair Hair:
mild hirsutism

Head And Neck Head:
macrocephaly

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Pelvis:
hip dysplasia
small, flared iliac wings
acetabular hypoplasia
aseptic necrosis of femoral head

Abdomen Liver:
hepatomegaly

Chest RibsSternum Clavicles And Scapulae:
broad ribs
prominent sternum

Head And Neck Eyes:
glaucoma
corneal clouding

Head And Neck Ears:
hearing loss

Skeletal Hands:
claw hand deformities

Growth Height:
short-trunked dwarfism
adult height 110-140 cm

Head And Neck Face:
mildly coarse facies

Skeletal Skull:
large omega-shaped sella
large dolichocephalic skull

Laboratory Abnormalities:
arylsulfatase b deficiency in fibroblasts and white blood cells
dermatan sulfate excretion in urine


Clinical features from OMIM:

253200

Human phenotypes related to Mucopolysaccharidosis Type Vi:

55 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
3 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
4 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
6 macroglossia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000158
7 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
8 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
9 chronic otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000389
10 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
11 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
12 mucopolysacchariduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0008155
13 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
14 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
15 sinusitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000246
16 broad ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000885
17 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
18 epiphyseal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002656
19 recurrent upper respiratory tract infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002788
20 ovoid vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003300
21 disproportionate short-trunk short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003521
22 opacification of the corneal stroma 55 31 hallmark (90%) Very frequent (99-80%) HP:0007759
23 thick nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0009928
24 hernia 55 31 frequent (33%) Frequent (79-30%) HP:0100790
25 macrocephaly 31 HP:0000256
26 hydrocephalus 31 HP:0000238
27 inguinal hernia 31 HP:0000023
28 hip dysplasia 31 HP:0001385
29 hepatomegaly 31 HP:0002240
30 depressed nasal bridge 31 HP:0005280
31 umbilical hernia 31 HP:0001537
32 dysostosis multiplex 31 HP:0000943
33 abnormality of the heart valves 55 Occasional (29-5%)
34 malformation of the heart and great vessels 55 Occasional (29-5%)
35 dolichocephaly 31 HP:0000268
36 cardiomyopathy 31 HP:0001638
37 hypoplastic iliac wing 31 HP:0002866
38 glaucoma 31 HP:0000501
39 split hand 31 HP:0001171
40 hypoplasia of the odontoid process 31 HP:0003311
41 lumbar hyperlordosis 31 HP:0002938
42 hirsutism 31 HP:0001007
43 flared iliac wings 31 HP:0002869
44 metaphyseal widening 31 HP:0003016
45 metaphyseal irregularity 31 HP:0003025
46 constrictive median neuropathy 31 HP:0012185
47 cervical myelopathy 31 HP:0002318
48 hypoplastic acetabulae 31 HP:0003274
49 prominent sternum 31 HP:0000884
50 dermatan sulfate excretion in urine 31 HP:0008301

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 top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
5
Busulfan Approved, Investigational Phase 2 55-98-1 2478
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
10
alemtuzumab Approved, Investigational Phase 2 216503-57-0
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12
Mesna Approved, Investigational Phase 2 3375-50-6 598
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 2 24280-93-1 446541
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
18
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
19
rituximab Approved Phase 2 174722-31-7 10201696
20 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21 tannic acid Approved, Nutraceutical Phase 2
22 Tocopherol Approved, Investigational, Nutraceutical Phase 2
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24 Alkylating Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 Antirheumatic Agents Phase 2,Phase 1
27 Immunosuppressive Agents Phase 2
28 Methylprednisolone acetate Phase 2
29 Methylprednisolone Hemisuccinate Phase 2
30 Prednisolone acetate Phase 2
31 Prednisolone hemisuccinate Phase 2
32 Prednisolone phosphate Phase 2
33 Anti-Inflammatory Agents Phase 1, Phase 2
34 Anti-Bacterial Agents Phase 2
35 Antibiotics, Antitubercular Phase 2
36 Antifungal Agents Phase 2
37 Anti-Infective Agents Phase 2
38 Antitubercular Agents Phase 2
39 Calcineurin Inhibitors Phase 2
40 Cyclosporins Phase 2
41 Dermatologic Agents Phase 2
42 Liver Extracts Phase 1, Phase 2
43 Antimetabolites Phase 2
44 Antimetabolites, Antineoplastic Phase 2
45 N-monoacetylcystine Phase 2
46 Thioctic Acid Phase 2
47 Tocopherols Phase 2
48 Tocotrienols Phase 2
49 Vitamins Phase 2
50 Alpha-lipoic Acid Nutraceutical Phase 2

Interventional clinical trials:

(show all 28)

# Name Status NCT ID Phase Drugs
1 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
2 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
3 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
4 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
5 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
6 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
7 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
8 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
9 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
10 Gene Therapy in Patients With Mucopolysaccharidosis Disease Recruiting NCT03173521 Phase 1, Phase 2
11 A Study in MPS VI to Assess Safety and Efficacy of Odiparcil Recruiting NCT03370653 Phase 2 Odiparcil
12 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
13 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
14 Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI Completed NCT00048620 Phase 1 N-acetylgalactosamine 4-sulfatase
15 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
16 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
17 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
18 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome Completed NCT01961518
19 Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02 Completed NCT01387854
20 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
21 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
22 Biomarker for Maroteaux-Lamy Disease Recruiting NCT01458613
23 Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Recruiting NCT00214773
24 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
25 Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome Active, not recruiting NCT02156674 Naglazyme®
26 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
27 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
28 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

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi 28 ARSB

Anatomical Context for Mucopolysaccharidosis Type Vi

MalaCards organs/tissues related to Mucopolysaccharidosis Type Vi:

38
Heart, Bone, Bone Marrow, Brain, Liver, Eye, Testes

Publications for Mucopolysaccharidosis Type Vi

Articles related to Mucopolysaccharidosis Type Vi:

(show top 50) (show all 82)
# Title Authors Year
1
Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. ( 29157190 )
2018
2
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI. ( 28932756 )
2017
3
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. ( 27797586 )
2017
4
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. ( 28552677 )
2017
5
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). ( 27826022 )
2017
6
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up. ( 28983456 )
2017
7
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. ( 27164636 )
2016
8
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. ( 26943923 )
2016
9
Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. ( 25750448 )
2015
10
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI. ( 25797215 )
2015
11
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. ( 26615596 )
2015
12
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. ( 28649537 )
2015
13
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. ( 26609033 )
2015
14
Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. ( 24964042 )
2014
15
Anesthetic Challenges in an Adult with Mucopolysaccharidosis Type VI. ( 25612205 )
2014
16
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. ( 25100895 )
2014
17
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. ( 25060283 )
2014
18
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. ( 24677745 )
2014
19
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
20
Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. ( 23311386 )
2013
21
Up to five years experience with 11 mucopolysaccharidosis type VI patients. ( 23523338 )
2013
22
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. ( 23458163 )
2013
23
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. ( 23557332 )
2013
24
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. ( 23826140 )
2013
25
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. ( 23194248 )
2013
26
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. ( 23633437 )
2013
27
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. ( 24373060 )
2013
28
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. ( 23974652 )
2013
29
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23192728 )
2013
30
New insights in mucopolysaccharidosis type VI: Neurological perspective. ( 23972383 )
2013
31
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. ( 22704873 )
2013
32
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23949968 )
2013
33
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. ( 22336888 )
2012
34
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. ( 22133300 )
2012
35
Teaching NeuroImages: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in a previously undiagnosed infant. ( 22351802 )
2012
36
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 21737154 )
2012
37
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
38
Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations. ( 22869947 )
2012
39
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. ( 22299127 )
2012
40
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. ( 22684871 )
2012
41
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. ( 22329490 )
2012
42
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. ( 23023219 )
2012
43
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. ( 21514195 )
2011
44
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. ( 21917494 )
2011
45
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. ( 21930407 )
2011
46
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. ( 21996138 )
2011
47
Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. ( 21887218 )
2011
48
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. ( 21638759 )
2011
49
Anesthesia in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 20976507 )
2010
50
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. ( 20143913 )
2010

Variations for Mucopolysaccharidosis Type Vi

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

71 (show all 29)
# 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 rs991104525
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
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSB NM_000046.3: c.384_386delCTC deletion Pathogenic
2 ARSB NM_000046.3(ARSB): c.1450A> G (p.Arg484Gly) single nucleotide variant Likely pathogenic rs201101343 GRCh37 Chromosome 5, 78076372: 78076372
3 ARSB NM_000046.3(ARSB): c.1214G> A (p.Cys405Tyr) single nucleotide variant Pathogenic rs118203941 GRCh37 Chromosome 5, 78077797: 78077797
4 ARSB NM_000046.3(ARSB): c.284G> A (p.Arg95Gln) single nucleotide variant Pathogenic rs118203942 GRCh37 Chromosome 5, 78280788: 78280788
5 ARSB NM_000046.3(ARSB): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs118203943 GRCh37 Chromosome 5, 78260300: 78260300
6 ARSB NM_000046.3(ARSB): c.1178A> C (p.His393Pro) single nucleotide variant Pathogenic rs118203944 GRCh37 Chromosome 5, 78135214: 78135214
7 ARSB NM_000046.3(ARSB): c.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh37 Chromosome 5, 78135250: 78135250
8 ARSB NM_000046.3(ARSB): c.1143-8T> G single nucleotide variant Pathogenic rs431905496 GRCh37 Chromosome 5, 78135257: 78135257
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

Pathways related to Mucopolysaccharidosis Type Vi according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

GO Terms for Mucopolysaccharidosis Type Vi

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.43 ARSA ARSB GALNS
2 lysosomal lumen GO:0043202 9.33 ARSA ARSB GALNS
3 azurophil granule lumen GO:0035578 9.13 ARSA ARSB GALNS
4 endoplasmic reticulum lumen GO:0005788 8.92 ARSA ARSB ARSH SUMF1

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.58 ARSA ARSB GALNS
2 metabolic process GO:0008152 9.56 ARSA ARSB ARSH GALNS
3 autophagy GO:0006914 9.48 ARSA ARSB
4 central nervous system development GO:0007417 9.46 ARSA ARSB
5 response to nutrient GO:0007584 9.43 ARSA ARSB
6 response to estrogen GO:0043627 9.37 ARSA ARSB
7 response to pH GO:0009268 9.32 ARSA ARSB
8 post-translational protein modification GO:0043687 9.26 ARSA ARSB ARSH SUMF1
9 response to methylmercury GO:0051597 9.16 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:

# 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 9.56 ARSA ARSB ARSH 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....