MCID: MCP024
MIFTS: 62

Mucopolysaccharidosis Type Vi

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

Aliases & Classifications for Mucopolysaccharidosis Type Vi

MalaCards integrated aliases for Mucopolysaccharidosis Type Vi:

Name: Mucopolysaccharidosis Type Vi 57 53 25 59 75 37 29 13 6 38 40
Arylsulfatase B Deficiency 57 12 53 25 59 75
Mucopolysaccharidosis Vi 38 12 25 44 15 73
Maroteaux-Lamy Syndrome 57 12 76 25 75 55
Mps Vi 57 76 53 25 75
Arsb Deficiency 57 53 59 75
Mps6 57 25 59 75
N-Acetylgalactosamine-4-Sulfatase Deficiency 57 53 75
Mucopolysaccharidosis Type 6 53 59
Mucopolysaccharidosis 6 25 75
Deficiency of N-Acetylgalactosamine-4-Sulfatase 12
N-Acetylgalactosamine 4-Sulfatase Deficiency 59
Mps Vi - Maroteaux-Lamy Syndrome 12
Mucopoly-Saccharidosis Type Vi 53
Maroteaux - Lamy Syndrome 12
Maroteaux Lamy Syndrome 53
Polydystrophic Dwarfism 25
Maroteaux-Lamy Disease 59
Arylsulfatase B 13
Asb Deficiency 59
Mps 6 53
Mpsvi 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 583Disease definitionMucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.EpidemiologyBirth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births.Clinical descriptionThe disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (GAG, generally >100 microgram/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally EtiologyThe disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (ASB or N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation.Diagnostic methodsDiagnosis generally requires evidence of clinical picture, ASB activity of less than 10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude mucosulfatidosis, see this term). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive.Differential diagnosisIn addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS 1, 2, 4A, 7), sialidosis and mucolipidosis (see these terms).Management and treatmentBefore enzyme replacement therapy (ERT) with galsulfase (Naglazyme®), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile.PrognosisPrognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mucopolysaccharidosis Type Vi, also known as arylsulfatase b deficiency, is related to multiple sulfatase deficiency and metachromatic leukodystrophy, and has symptoms including joint stiffness 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, and related phenotypes are short neck and genu valgum

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI,MPS VI, or polydystrophic dwarfism)... more...

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 33)
# Related Disease Score Top Affiliating Genes
1 multiple sulfatase deficiency 29.4 ARSA ARSB ARSH GALNS SUMF1
2 metachromatic leukodystrophy 29.0 ARSA ARSB ARSH SUMF1
3 lysosomal storage disease 26.6 ARSA ARSB GAA GALNS GUSB SUMF1
4 mucopolysaccharidosis type 6, slowly progressing 11.1
5 mucopolysaccharidosis type 6, rapidly progressing 11.1
6 gastric dilatation 10.3 ARSB ARSH
7 mucopolysaccharidoses 10.2 ARSH GUSB
8 mucopolysaccharidosis, type iva 10.2 ARSH GALNS
9 mucopolysaccharidosis iv 10.1 ARSH GALNS
10 mucolipidosis ii alpha/beta 10.1 ARSH GUSB
11 endocardial fibroelastosis 10.0
12 hydrocephalus 10.0
13 mucolipidosis iii alpha/beta 10.0 GALNS GUSB
14 aging 10.0
15 retinitis 10.0
16 mucopolysaccharidosis, type vii 10.0 GALNS GUSB
17 lipoid congenital adrenal hyperplasia 9.9
18 diabetes mellitus, ketosis-prone 9.9
19 hematopoietic stem cell transplantation 9.9
20 papilledema 9.9
21 empty sella syndrome 9.9
22 mongolian spot 9.9
23 pancreatitis 9.9
24 aneurysm 9.9
25 hemifacial spasm 9.9
26 ichthyosis, x-linked 9.8 ARSH SUMF1
27 sandhoff disease 9.8
28 krabbe disease 9.7 ARSA GAA
29 scheie syndrome 9.7 GAA GALNS
30 inherited metabolic disorder 9.5 ARSA GAA GALNS
31 mucopolysaccharidosis iii 9.4 ARSH SUMF1
32 mucopolysaccharidosis-plus syndrome 9.3 ARSB ARSH GALNS GUSB
33 mucopolysaccharidosis, type ii 9.1 ARSA ARSH GAA GALNS

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:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
hydrocephalus
normal intelligence
cervical myelopathy

Head And Neck Mouth:
macroglossia
thickened lips

AbdomenSpleen:
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

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

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 Ribs Sternum 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:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
5 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
8 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
9 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
10 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
11 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
12 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
15 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
16 broad ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000885
17 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
18 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
19 recurrent upper respiratory tract infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002788
20 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
21 disproportionate short-trunk short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003521
22 opacification of the corneal stroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007759
23 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
24 hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100790
25 macrocephaly 32 HP:0000256
26 hydrocephalus 32 HP:0000238
27 inguinal hernia 32 HP:0000023
28 hip dysplasia 32 HP:0001385
29 hepatomegaly 32 HP:0002240
30 depressed nasal bridge 32 HP:0005280
31 umbilical hernia 32 HP:0001537
32 dysostosis multiplex 32 HP:0000943
33 abnormality of the heart valves 59 Occasional (29-5%)
34 malformation of the heart and great vessels 59 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 constrictive median neuropathy 32 HP:0012185
47 cervical myelopathy 32 HP:0002318
48 hypoplastic acetabulae 32 HP:0003274
49 prominent sternum 32 HP:0000884
50 dermatan sulfate excretion in urine 32 HP:0008301

UMLS symptoms related to Mucopolysaccharidosis Type Vi:


joint stiffness

MGI Mouse Phenotypes related to Mucopolysaccharidosis Type Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.02 ARSB GAA GALNS GUSB SUMF1

Drugs & Therapeutics for Mucopolysaccharidosis Type Vi

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

(show top 50) (show all 52)
# 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 1406-66-2 14986
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24 Alkylating Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 Antineoplastic Agents, Alkylating Phase 2
27 Antirheumatic Agents Phase 2,Phase 1
28 Immunosuppressive Agents Phase 2
29 Methylprednisolone acetate Phase 2
30 Methylprednisolone Hemisuccinate Phase 2
31 Prednisolone acetate Phase 2
32 Prednisolone hemisuccinate Phase 2
33 Prednisolone phosphate Phase 2
34 Anti-Inflammatory Agents Phase 1, Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antibiotics, Antitubercular Phase 2
37 Antifungal Agents Phase 2
38 Anti-Infective Agents Phase 2
39 Antitubercular Agents Phase 2
40 Calcineurin Inhibitors Phase 2
41 Cyclosporins Phase 2
42 Dermatologic Agents Phase 2
43 Liver Extracts Phase 1, Phase 2
44 Antimetabolites Phase 2
45 Antimetabolites, Antineoplastic Phase 2
46 N-monoacetylcystine Phase 2
47 Thioctic Acid Phase 2
48 Tocopherols Phase 2
49 Tocotrienols Phase 2
50 Vitamins 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 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 Not Applicable Naglazyme®
25 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
26 Biomarker for Maroteaux-Lamy Disease Terminated NCT01458613
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 73 / NDF-RT 51 :


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 29 ARSB

Anatomical Context for Mucopolysaccharidosis Type Vi

MalaCards organs/tissues related to Mucopolysaccharidosis Type Vi:

41
Heart, Bone, Bone Marrow, Brain, Liver, Eye, Testes

Publications for Mucopolysaccharidosis Type Vi

Articles related to Mucopolysaccharidosis Type Vi:

(show top 50) (show all 85)
# Title Authors Year
1
Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. ( 29157190 )
2018
2
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). ( 29971196 )
2018
3
Medically uncontrolled intraocular pressure in mucopolysaccharidosis type VI. ( 29971925 )
2018
4
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up. ( 28983456 )
2017
5
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. ( 27797586 )
2017
6
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). ( 27826022 )
2017
7
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI. ( 28932756 )
2017
8
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. ( 28552677 )
2017
9
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. ( 27164636 )
2016
10
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. ( 26943923 )
2016
11
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI. ( 25797215 )
2015
12
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. ( 28649537 )
2015
13
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. ( 26615596 )
2015
14
Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. ( 25750448 )
2015
15
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. ( 26609033 )
2015
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
Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. ( 24964042 )
2014
19
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. ( 24677745 )
2014
20
Anesthetic Challenges in an Adult with Mucopolysaccharidosis Type VI. ( 25612205 )
2014
21
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. ( 23458163 )
2013
22
New insights in mucopolysaccharidosis type VI: Neurological perspective. ( 23972383 )
2013
23
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23192728 )
2013
24
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. ( 23194248 )
2013
25
Up to five years experience with 11 mucopolysaccharidosis type VI patients. ( 23523338 )
2013
26
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23949968 )
2013
27
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. ( 23557332 )
2013
28
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. ( 22704873 )
2013
29
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. ( 24373060 )
2013
30
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. ( 23633437 )
2013
31
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. ( 23826140 )
2013
32
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
33
Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. ( 23311386 )
2013
34
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. ( 23974652 )
2013
35
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. ( 22133300 )
2012
36
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. ( 22299127 )
2012
37
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 21737154 )
2012
38
Teaching NeuroImages: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in a previously undiagnosed infant. ( 22351802 )
2012
39
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. ( 22684871 )
2012
40
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. ( 22336888 )
2012
41
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
42
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. ( 23023219 )
2012
43
Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations. ( 22869947 )
2012
44
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. ( 22329490 )
2012
45
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. ( 21514195 )
2011
46
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. ( 21638759 )
2011
47
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. ( 21917494 )
2011
48
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. ( 21996138 )
2011
49
Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. ( 21887218 )
2011
50
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. ( 21930407 )
2011

Variations for Mucopolysaccharidosis Type Vi

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

75 (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.Phe399Leu VAR_019031 rs200793396
26 ARSB p.Arg484Gly VAR_019032 rs201101343
27 ARSB p.Cys521Tyr VAR_019033
28 ARSB p.Pro531Arg VAR_019034
29 ARSB p.Leu82Arg VAR_080270

ClinVar genetic disease variations for Mucopolysaccharidosis Type Vi:

6
(show top 50) (show all 223)
# 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.1214G> A (p.Cys405Tyr) single nucleotide variant Pathogenic rs118203941 GRCh38 Chromosome 5, 78781974: 78781974
3 ARSB NM_000046.3(ARSB): c.284G> A (p.Arg95Gln) single nucleotide variant Pathogenic rs118203942 GRCh37 Chromosome 5, 78280788: 78280788
4 ARSB NM_000046.3(ARSB): c.284G> A (p.Arg95Gln) single nucleotide variant Pathogenic rs118203942 GRCh38 Chromosome 5, 78984965: 78984965
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.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs118203943 GRCh38 Chromosome 5, 78964477: 78964477
7 ARSB NM_000046.3(ARSB): c.1178A> C (p.His393Pro) single nucleotide variant Pathogenic rs118203944 GRCh37 Chromosome 5, 78135214: 78135214
8 ARSB NM_000046.3(ARSB): c.1178A> C (p.His393Pro) single nucleotide variant Pathogenic rs118203944 GRCh38 Chromosome 5, 78839391: 78839391
9 ARSB NM_000046.3(ARSB): c.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh37 Chromosome 5, 78135250: 78135250
10 ARSB NM_000046.3(ARSB): c.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh38 Chromosome 5, 78839427: 78839427
11 ARSB NM_000046.3(ARSB): c.1143-8T> G single nucleotide variant Pathogenic rs431905496 GRCh37 Chromosome 5, 78135257: 78135257
12 ARSB NM_000046.3(ARSB): c.1143-8T> G single nucleotide variant Pathogenic rs431905496 GRCh38 Chromosome 5, 78839434: 78839434
13 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh37 Chromosome 7, 65444769: 65444769
14 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh38 Chromosome 7, 65979782: 65979782
15 ARSB NM_000046.3: c.384_386delCTC deletion Pathogenic
16 ARSB NM_000046.3(ARSB): c.1450A> G (p.Arg484Gly) single nucleotide variant Likely pathogenic rs201101343 GRCh37 Chromosome 5, 78076372: 78076372
17 ARSB NM_000046.3(ARSB): c.1450A> G (p.Arg484Gly) single nucleotide variant Likely pathogenic rs201101343 GRCh38 Chromosome 5, 78780549: 78780549
18 ARSB NM_000046.3(ARSB): c.98C> T (p.Ala33Val) single nucleotide variant Benign/Likely benign rs201168448 GRCh37 Chromosome 5, 78280974: 78280974
19 ARSB NM_000046.3(ARSB): c.98C> T (p.Ala33Val) single nucleotide variant Benign/Likely benign rs201168448 GRCh38 Chromosome 5, 78985151: 78985151
20 ARSB NM_000046.3(ARSB): c.290A> G (p.Gln97Arg) single nucleotide variant Likely pathogenic rs886039914 GRCh38 Chromosome 5, 78984959: 78984959
21 ARSB NM_000046.3(ARSB): c.290A> G (p.Gln97Arg) single nucleotide variant Likely pathogenic rs886039914 GRCh37 Chromosome 5, 78280782: 78280782
22 ARSB NM_000046.3(ARSB): c.1373A> G (p.Asn458Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144222167 GRCh37 Chromosome 5, 78076449: 78076449
23 ARSB NM_000046.3(ARSB): c.1373A> G (p.Asn458Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144222167 GRCh38 Chromosome 5, 78780626: 78780626
24 ARSB NM_000046.3(ARSB): c.*3181T> G single nucleotide variant Likely benign rs11750774 GRCh37 Chromosome 5, 78073039: 78073039
25 ARSB NM_000046.3(ARSB): c.*3181T> G single nucleotide variant Likely benign rs11750774 GRCh38 Chromosome 5, 78777216: 78777216
26 ARSB NM_000046.3(ARSB): c.*3174T> G single nucleotide variant Uncertain significance rs886060777 GRCh38 Chromosome 5, 78777223: 78777223
27 ARSB NM_000046.3(ARSB): c.*3174T> G single nucleotide variant Uncertain significance rs886060777 GRCh37 Chromosome 5, 78073046: 78073046
28 ARSB NM_000046.3(ARSB): c.*3047T> C single nucleotide variant Uncertain significance rs560253823 GRCh38 Chromosome 5, 78777350: 78777350
29 ARSB NM_000046.3(ARSB): c.*3047T> C single nucleotide variant Uncertain significance rs560253823 GRCh37 Chromosome 5, 78073173: 78073173
30 ARSB NM_000046.3(ARSB): c.*2708G> A single nucleotide variant Uncertain significance rs141667208 GRCh38 Chromosome 5, 78777689: 78777689
31 ARSB NM_000046.3(ARSB): c.*2708G> A single nucleotide variant Uncertain significance rs141667208 GRCh37 Chromosome 5, 78073512: 78073512
32 ARSB NM_000046.3(ARSB): c.*2707C> T single nucleotide variant Uncertain significance rs183918206 GRCh38 Chromosome 5, 78777690: 78777690
33 ARSB NM_000046.3(ARSB): c.*2707C> T single nucleotide variant Uncertain significance rs183918206 GRCh37 Chromosome 5, 78073513: 78073513
34 ARSB NM_000046.3(ARSB): c.*2672A> G single nucleotide variant Uncertain significance rs886060780 GRCh38 Chromosome 5, 78777725: 78777725
35 ARSB NM_000046.3(ARSB): c.*2672A> G single nucleotide variant Uncertain significance rs886060780 GRCh37 Chromosome 5, 78073548: 78073548
36 ARSB NM_000046.3(ARSB): c.*2243A> G single nucleotide variant Uncertain significance rs145585943 GRCh38 Chromosome 5, 78778154: 78778154
37 ARSB NM_000046.3(ARSB): c.*2243A> G single nucleotide variant Uncertain significance rs145585943 GRCh37 Chromosome 5, 78073977: 78073977
38 ARSB NM_000046.3(ARSB): c.*2022T> G single nucleotide variant Benign rs7704939 GRCh38 Chromosome 5, 78778375: 78778375
39 ARSB NM_000046.3(ARSB): c.*2022T> G single nucleotide variant Benign rs7704939 GRCh37 Chromosome 5, 78074198: 78074198
40 ARSB NM_000046.3(ARSB): c.*1729delT deletion Uncertain significance rs369595123 GRCh38 Chromosome 5, 78778668: 78778668
41 ARSB NM_000046.3(ARSB): c.*1729delT deletion Uncertain significance rs369595123 GRCh37 Chromosome 5, 78074491: 78074491
42 ARSB NM_000046.3(ARSB): c.*1610G> A single nucleotide variant Uncertain significance rs867100156 GRCh37 Chromosome 5, 78074610: 78074610
43 ARSB NM_000046.3(ARSB): c.*1610G> A single nucleotide variant Uncertain significance rs867100156 GRCh38 Chromosome 5, 78778787: 78778787
44 ARSB NM_000046.3(ARSB): c.*1513C> T single nucleotide variant Uncertain significance rs886060786 GRCh37 Chromosome 5, 78074707: 78074707
45 ARSB NM_000046.3(ARSB): c.*1513C> T single nucleotide variant Uncertain significance rs886060786 GRCh38 Chromosome 5, 78778884: 78778884
46 ARSB NM_000046.3(ARSB): c.*1469C> T single nucleotide variant Likely benign rs55710452 GRCh38 Chromosome 5, 78778928: 78778928
47 ARSB NM_000046.3(ARSB): c.*1469C> T single nucleotide variant Likely benign rs55710452 GRCh37 Chromosome 5, 78074751: 78074751
48 ARSB NM_000046.3(ARSB): c.*1387C> T single nucleotide variant Uncertain significance rs555581069 GRCh37 Chromosome 5, 78074833: 78074833
49 ARSB NM_000046.3(ARSB): c.*1387C> T single nucleotide variant Uncertain significance rs555581069 GRCh38 Chromosome 5, 78779010: 78779010
50 ARSB NM_000046.3(ARSB): c.*1372dupT duplication Uncertain significance rs551749278 GRCh37 Chromosome 5, 78074848: 78074848

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:

37
# 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 endoplasmic reticulum lumen GO:0005788 9.56 ARSA ARSB ARSH SUMF1
2 lysosome GO:0005764 9.55 ARSA ARSB GAA GALNS GUSB
3 azurophil granule lumen GO:0035578 9.26 ARSA ARSB GALNS GUSB
4 lysosomal lumen GO:0043202 9.02 ARSA ARSB GAA GALNS GUSB

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.56 ARSA ARSB ARSH SUMF1
2 neutrophil degranulation GO:0043312 9.55 ARSA ARSB GAA GALNS GUSB
3 response to nutrient GO:0007584 9.46 ARSA ARSB
4 response to estrogen GO:0043627 9.43 ARSA ARSB
5 metabolic process GO:0008152 9.43 ARSA ARSB ARSH GAA GALNS GUSB
6 lysosome organization GO:0007040 9.4 ARSB GAA
7 response to pH GO:0009268 9.37 ARSA ARSB
8 response to methylmercury GO:0051597 9.32 ARSA ARSB
9 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 hydrolase activity GO:0016787 9.73 ARSA ARSB ARSH GAA GALNS GUSB
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.37 GAA GUSB
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.32 GAA GUSB
4 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 ARSB GALNS
5 arylsulfatase activity GO:0004065 9.13 ARSA ARSB ARSH
6 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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