MCID: MCP024
MIFTS: 61

Mucopolysaccharidosis Type Vi

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

MalaCards integrated aliases for Mucopolysaccharidosis Type Vi:

Name: Mucopolysaccharidosis Type Vi 54 50 24 25 56 71 29 13 38
Arylsulfatase B Deficiency 12 50 24 25 56 71
Mucopolysaccharidosis Vi 38 12 25 42 14 69
Maroteaux-Lamy Syndrome 12 24 25 71 52
Mps Vi 50 24 25 71
Arsb Deficiency 50 56 71
Mps6 25 56 71
N-Acetylgalactosamine-4-Sulfatase Deficiency 50 71
Mucopolysaccharidosis Type 6 50 56
Mucopolysaccharidosis 6 25 71
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;

OMIM:

54
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:

32
mucopolysaccharidosis type vi:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis Type Vi

OMIM : 54
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 type 6, slowly progressing and mucopolysaccharidosis type 6, rapidly progressing, and has symptoms including failure to thrive, visual impairment and macroglossia. 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 Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and bone marrow.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on mucopolysaccharidosis.

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.

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.

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 Ih family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis is Mucopolysaccharidosis Ih/s
Mucopolysaccharidosis Type Vi Mucopolysaccharidosis Vii
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Type Iiia
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 32)
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 aspiration pneumonitis 10.1 ARSB ARSH
5 hydrocephalus 9.9
6 endocardial fibroelastosis 9.9
7 klippel-feil syndrome 1 9.9 ARSH GALNS
8 metachromatic leukodystrophy 9.9
9 retinitis 9.9
10 muscle disorders 9.8 ARSH GALNS
11 congenital adrenal hyperplasia 9.8
12 papilledema 9.8
13 empty sella syndrome 9.8
14 mongolian spot 9.8
15 pancreatitis 9.8
16 aneurysm 9.8
17 hypertriglyceridemia 9.8
18 hematopoietic stem cell transplantation 9.8
19 lysosomal storage disease 9.7
20 cardiomyopathy 9.7
21 ichthyosis lamellar 1 9.6 ARSB SUMF1
22 multifocal motor neuropathy 9.6 ARSH SUMF1
23 microcephaly 16, primary, autosomal recessive 9.6 ARSB ARSH GALNS
24 ciliary dyskinesia, primary, 33 9.5 ARSA ARSH GALNS
25 chondrodysplasia punctata, x-linked recessive 9.5 ARSH SUMF1
26 mucopolysaccharidosis ih/s 9.4 GAA GALNS
27 ovarian clear cell malignant adenofibroma 9.4 ARSA GAA GALNS
28 mitochondrial dna depletion syndrome 1 8.9 ARSA ARSB ARSH SUMF1
29 ectodermal dysplasia, hypohidrotic, with immune deficiency 8.7 ARSH GAA GALNS SUMF1
30 intellectual developmental disorder with dysmorphic facies and ptosis 8.3 ARSA ARSB ARSH GALNS SUMF1
31 malignant glioma 8.2 ARSA ARSB GAA GALNS SUMF1
32 ciliary dyskinesia, primary, 29 7.8 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 via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
macroglossia
thickened lips

Abdomen- Liver:
hepatomegaly

Neurologic- Central Nervous System:
hydrocephalus
normal intelligence
cervical myelopathy

Skeletal:
dysostosis multiplex

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

Head And Neck- Nose:
low nasal bridge

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

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

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

Head And Neck- Face:
mildly coarse facies

Skeletal- Skull:
large omega-shaped sella
large dolichocephalic skull

Skin Nails & Hair- Hair:
mild hirsutism

Abdomen- External Features:
umbilical hernia
inguinal hernia

Abdomen- Spleen:
splenomegaly

Head And Neck- Ears:
hearing loss

Head And Neck- Eyes:
glaucoma
corneal clouding

Head And Neck- Head:
macrocephaly

Respiratory- Nasopharynx:
frequent upper respiratory infections

Chest- Ribs Sternum Clavicles And Scapulae:
prominent sternum
broad ribs

Neurologic- Peripheral Nervous System:
carpal tunnel syndrome

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

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

Skeletal- Hands:
claw hand deformities

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:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 macroglossia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000158
4 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
5 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
6 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 hernia 56 32 frequent (33%) Frequent (79-30%) HP:0100790
8 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
9 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
10 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
11 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
12 thick nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0009928
13 ovoid vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003300
14 broad ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000885
15 epiphyseal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002656
16 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
17 chronic otitis media 56 32 hallmark (90%) Very frequent (99-80%) HP:0000389
18 thick lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000179
19 sinusitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000246
20 recurrent upper respiratory tract infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002788
21 mucopolysacchariduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0008155
22 abnormality of the heart valves 56 32 occasional (7.5%) Occasional (29-5%) HP:0001654
23 disproportionate short-trunk short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003521
24 opacification of the corneal stroma 56 32 hallmark (90%) Very frequent (99-80%) HP:0007759
25 hirsutism 32 HP:0001007
26 umbilical hernia 32 HP:0001537
27 hepatomegaly 32 HP:0002240
28 hydrocephalus 32 HP:0000238
29 depressed nasal bridge 32 HP:0005280
30 dysostosis multiplex 32 HP:0000943
31 lumbar hyperlordosis 32 HP:0002938
32 glaucoma 32 HP:0000501
33 macrocephaly 32 HP:0000256
34 inguinal hernia 32 HP:0000023
35 cardiomyopathy 32 HP:0001638
36 flared iliac wings 32 HP:0002869
37 dolichocephaly 32 HP:0000268
38 metaphyseal widening 32 HP:0003016
39 prominent sternum 32 HP:0000884
40 hypoplastic acetabulae 32 HP:0003274
41 cervical myelopathy 32 HP:0002318
42 hip dysplasia 32 HP:0001385
43 dermatan sulfate excretion in urine 32 HP:0008301
44 hypoplastic iliac wing 32 HP:0002866
45 split hand 32 HP:0001171
46 metaphyseal irregularity 32 HP:0003025
47 abnormality of the metaphyses 56 Very frequent (99-80%)
48 malformation of the heart and great vessels 56 Occasional (29-5%)
49 hypoplasia of the odontoid process 32 HP:0003311
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 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
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
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 Thiotepa Approved Phase 2 52-24-4 5453
16
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
17
Mesna Approved Phase 2 3375-50-6 598
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21 Tocopherol Approved, Nutraceutical Phase 2
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 tannic acid Approved, Nutraceutical Phase 2
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 Liver Extracts Phase 1, Phase 2
35 Antimetabolites Phase 2
36 Antimetabolites, Antineoplastic Phase 2
37 N-monoacetylcystine Phase 2
38 Thioctic Acid Phase 2
39 Tocopherols Phase 2
40 Tocotrienols Phase 2
41 Vitamins Phase 2
42 Anti-Bacterial Agents Phase 2
43 Antibiotics, Antitubercular Phase 2
44 Antifungal Agents Phase 2
45 Anti-Infective Agents Phase 2
46 Calcineurin Inhibitors Phase 2
47 Cyclosporins Phase 2
48 Dermatologic Agents Phase 2
49 Alpha-lipoic Acid Nutraceutical Phase 2
50 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(show all 27)

id 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 Gene Therapy in Patients With Mucopolysaccharidosis Disease Recruiting NCT03173521 Phase 1, Phase 2
10 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)
11 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
12 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
13 Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI Completed NCT00048620 Phase 1 N-acetylgalactosamine 4-sulfatase
14 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
15 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
16 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
17 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome Completed NCT01961518
18 Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02 Completed NCT01387854
19 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
20 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
21 Biomarker for Maroteaux-Lamy Disease Recruiting NCT01458613
22 Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Recruiting NCT00214773
23 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
24 Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome Active, not recruiting NCT02156674 Naglazyme®
25 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
26 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
27 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
Bone, Heart, Bone Marrow, Liver, Brain, Eye, Testes

Publications for Mucopolysaccharidosis Type Vi

Articles related to Mucopolysaccharidosis Type Vi:

(show top 50) (show all 80)
id Title Authors Year
1
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI. ( 28932756 )
2017
2
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. ( 27797586 )
2017
3
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). ( 27826022 )
2017
4
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. ( 28552677 )
2017
5
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. ( 27164636 )
2016
6
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. ( 26943923 )
2016
7
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. ( 26615596 )
2015
8
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. ( 28649537 )
2015
9
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI. ( 25797215 )
2015
10
Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. ( 25750448 )
2015
11
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. ( 26609033 )
2015
12
Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. ( 24964042 )
2014
13
Anesthetic Challenges in an Adult with Mucopolysaccharidosis Type VI. ( 25612205 )
2014
14
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. ( 25060283 )
2014
15
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. ( 24677745 )
2014
16
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. ( 25100895 )
2014
17
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. ( 23557332 )
2013
18
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. ( 23633437 )
2013
19
New insights in mucopolysaccharidosis type VI: Neurological perspective. ( 23972383 )
2013
20
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. ( 23826140 )
2013
21
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23949968 )
2013
22
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. ( 23458163 )
2013
23
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. ( 22704873 )
2013
24
Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. ( 23311386 )
2013
25
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. ( 24373060 )
2013
26
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
27
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. ( 23194248 )
2013
28
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23192728 )
2013
29
Up to five years experience with 11 mucopolysaccharidosis type VI patients. ( 23523338 )
2013
30
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. ( 23974652 )
2013
31
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. ( 23023219 )
2012
32
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. ( 22684871 )
2012
33
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. ( 22329490 )
2012
34
Teaching NeuroImages: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in a previously undiagnosed infant. ( 22351802 )
2012
35
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. ( 22336888 )
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
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. ( 22299127 )
2012
39
Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations. ( 22869947 )
2012
40
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. ( 22133300 )
2012
41
Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. ( 21887218 )
2011
42
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. ( 21514195 )
2011
43
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. ( 21638759 )
2011
44
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. ( 21996138 )
2011
45
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. ( 21930407 )
2011
46
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. ( 21917494 )
2011
47
Anesthesia in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 20976507 )
2010
48
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation. ( 20800524 )
2010
49
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. ( 20143913 )
2010
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:

71 (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.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh37 Chromosome 5, 78135250: 78135250
2 ARSB NM_000046.3(ARSB): c.1143-8T> G single nucleotide variant Pathogenic rs431905496 GRCh37 Chromosome 5, 78135257: 78135257
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: 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
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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