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MPS6
MCID: MCP052
MIFTS: 62

Mucopolysaccharidosis, Type Vi (MPS6)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mucopolysaccharidosis, Type Vi

About this section

MalaCards integrated aliases for Mucopolysaccharidosis, Type Vi:

Name: Mucopolysaccharidosis, Type Vi 58 39
Mucopolysaccharidosis Type Vi 58 54 26 60 76 38 30 13 6 41
Arylsulfatase B Deficiency 58 12 54 26 60 76
Maroteaux-Lamy Syndrome 58 12 77 26 76 56
Mucopolysaccharidosis Vi 39 12 26 45 15
Mps Vi 58 77 54 26 76
Arsb Deficiency 58 54 60 76
Mps6 58 26 60 76
N-Acetylgalactosamine-4-Sulfatase Deficiency 58 54 76
Mucopolysaccharidosis Type 6 54 60
Mucopolysaccharidosis 6 26 76
Deficiency of N-Acetylgalactosamine-4-Sulfatase 12
N-Acetylgalactosamine 4-Sulfatase Deficiency 60
Mps Vi - Maroteaux-Lamy Syndrome 12
Mucopoly-Saccharidosis Type Vi 54
Maroteaux - Lamy Syndrome 12
Maroteaux Lamy Syndrome 54
Polydystrophic Dwarfism 26
Maroteaux-Lamy Disease 60
Arylsulfatase B 13
Asb Deficiency 60
Mps 6 54
Mpsvi 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
mucopolysaccharidosis, type vi:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Skin diseases Liver diseases Neuronal diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Sources

Summaries for Mucopolysaccharidosis, Type Vi

About this section
NIH Rare Diseases : 54 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 mucopolysaccharidosis type vi, is related to multiple sulfatase deficiency and mucopolysaccharidosis-plus syndrome, 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 Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and bone marrow, and related phenotypes are failure to thrive and coarse facial features

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

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI,MPS VI, or polydystrophic dwarfism)... more...

Sources

Related Diseases for Mucopolysaccharidosis, Type Vi

About this section

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 49)
# Related Disease Score Top Affiliating Genes
1 multiple sulfatase deficiency 31.1 ARSA ARSB ARSH GALNS
2 mucopolysaccharidosis-plus syndrome 30.5 ARSB ARSH GALNS GUSB
3 metachromatic leukodystrophy 30.2 ARSA ARSB ARSH
4 mucopolysaccharidoses 30.0 ARSH GUSB
5 lysosomal storage disease 29.1 ARSA ARSB GAA GALNS GUSB
6 mucopolysaccharidosis type 6, slowly progressing 11.3
7 mucopolysaccharidosis type 6, rapidly progressing 11.3
8 hurler syndrome 11.2
9 cystic fibrosis 10.3
10 leukodystrophy 10.3
11 cholestasis 10.3
12 mitral valve stenosis 10.3
13 growth hormone deficiency 10.3
14 dwarfism 10.3
15 endocardial fibroelastosis 10.1
16 hydrocephalus 10.1
17 gastric dilatation 10.1 ARSB ARSH
18 prostate cancer 10.1
19 prostate cancer, hereditary, 8 10.1
20 prostate cancer, hereditary, 6 10.1
21 hypoxia 10.1
22 mucopolysaccharidosis, type iva 10.0 ARSH GALNS
23 mucolipidosis ii alpha/beta 10.0 ARSH GUSB
24 lipoid congenital adrenal hyperplasia 10.0
25 diabetes mellitus, ketosis-prone 10.0
26 hematopoietic stem cell transplantation 10.0
27 papilledema 10.0
28 syringomyelia 10.0
29 empty sella syndrome 10.0
30 pancreatitis 10.0
31 rere-related disorders 10.0
32 hemifacial spasm 10.0
33 mucopolysaccharidosis iv 10.0 ARSH GALNS
34 mucopolysaccharidosis, type vii 10.0 GALNS GUSB
35 sandhoff disease 9.9
36 ige responsiveness, atopic 9.9
37 mannosidosis 9.9
38 allergic hypersensitivity disease 9.9
39 atherosclerosis susceptibility 9.9
40 leukemia, chronic myeloid 9.9
41 leukemia 9.9
42 spinal cord injury 9.9
43 filariasis 9.9
44 schistosomiasis 9.9
45 distal trisomy 11q 9.9
46 scheie syndrome 9.6 GAA GALNS
47 krabbe disease 9.5 ARSA GAA
48 inherited metabolic disorder 9.5 ARSA GAA GALNS
49 mucopolysaccharidosis, type ii 9.3 ARSA ARSH GAA GALNS

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



Diseases related to Mucopolysaccharidosis, Type Vi
Sources

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Vi

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Human phenotypes related to Mucopolysaccharidosis, Type Vi:

60 33 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
3 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
4 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
5 mucopolysacchariduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0008155
6 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
7 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
8 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
9 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
10 recurrent upper respiratory tract infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002788
11 disproportionate short-trunk short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003521
12 opacification of the corneal stroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007759
13 thick nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0009928
14 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
15 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
16 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
17 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
18 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
19 broad ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000885
20 ovoid vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003300
21 hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100790
22 macroglossia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000158
23 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
24 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
25 abnormal heart valve morphology 33 occasional (7.5%) HP:0001654
26 macrocephaly 33 HP:0000256
27 hydrocephalus 33 HP:0000238
28 inguinal hernia 33 HP:0000023
29 hip dysplasia 33 HP:0001385
30 hepatomegaly 33 HP:0002240
31 depressed nasal bridge 33 HP:0005280
32 aseptic necrosis 33 HP:0010885
33 umbilical hernia 33 HP:0001537
34 dysostosis multiplex 33 HP:0000943
35 abnormality of the heart valves 60 Occasional (29-5%)
36 malformation of the heart and great vessels 60 Occasional (29-5%)
37 dolichocephaly 33 HP:0000268
38 cardiomyopathy 33 HP:0001638
39 hypoplastic iliac wing 33 HP:0002866
40 glaucoma 33 HP:0000501
41 split hand 33 HP:0001171
42 hypoplasia of the odontoid process 33 HP:0003311
43 lumbar hyperlordosis 33 HP:0002938
44 hirsutism 33 HP:0001007
45 flared iliac wings 33 HP:0002869
46 metaphyseal widening 33 HP:0003016
47 metaphyseal irregularity 33 HP:0003025
48 constrictive median neuropathy 33 HP:0012185
49 cervical myelopathy 33 HP:0002318
50 hypoplastic acetabulae 33 HP:0003274

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

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

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

UMLS symptoms related to Mucopolysaccharidosis, Type Vi:


joint stiffness
Sources

Drugs & Therapeutics for Mucopolysaccharidosis, Type Vi

About this section

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
3 Hormone Antagonists Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
7
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
8
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Busulfan Approved, Investigational Phase 2 55-98-1 2478
11
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
12
Mesna Approved, Investigational Phase 2 3375-50-6 598
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
tannic acid Approved Phase 2 1401-55-4
16
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
17
alemtuzumab Approved, Investigational Phase 2 216503-57-0
18
Losartan Approved Phase 2 114798-26-4 3961
19
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
20
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
21
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
22
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
23
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
24
rituximab Approved Phase 2 174722-31-7 10201696
25
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
27
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
28 Tocotrienol Investigational Phase 2 6829-55-6
29 Immunosuppressive Agents Phase 2
30 Prednisolone acetate Phase 2
31 Antineoplastic Agents, Alkylating Phase 2
32 Immunologic Factors Phase 2
33 Alkylating Agents Phase 2
34 Methylprednisolone Acetate Phase 2
35 Thymoglobulin Phase 2
36 Antilymphocyte Serum Phase 2
37 Antirheumatic Agents Phase 2,Phase 1
38 Anti-Inflammatory Agents Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 2
40 Anti-Infective Agents Phase 2
41 Antineoplastic Agents, Immunological Phase 2
42 Calcineurin Inhibitors Phase 2
43 Cyclosporins Phase 2
44 Antifungal Agents Phase 2
45 Dermatologic Agents Phase 2
46 Antitubercular Agents Phase 2
47 Antibiotics, Antitubercular Phase 2
48 Liver Extracts Phase 1, Phase 2
49 Giapreza Phase 2
50 Antihypertensive Agents Phase 2

Interventional clinical trials:

(show all 29)
# 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 Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
13 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)
14 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
15 Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI Completed NCT00048620 Phase 1 N-acetylgalactosamine 4-sulfatase
16 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
17 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
18 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
19 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome Completed NCT01961518
20 Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02 Completed NCT01387854
21 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
22 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
23 Biomarker for Maroteaux-Lamy Disease Recruiting NCT01458613
24 Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Recruiting NCT00214773
25 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
26 Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome Active, not recruiting NCT02156674 Not Applicable Naglazyme®
27 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
28 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
29 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015

Search NIH Clinical Center for Mucopolysaccharidosis, Type Vi

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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�, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
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

Sources

Genetic Tests for Mucopolysaccharidosis, Type Vi

About this section

Genetic tests related to Mucopolysaccharidosis, Type Vi:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi 30 ARSB
Sources

Anatomical Context for Mucopolysaccharidosis, Type Vi

About this section

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Vi:

42
Heart, Bone, Bone Marrow, Liver, Brain, Eye, Testes
Sources

Publications for Mucopolysaccharidosis, Type Vi

About this section

Articles related to Mucopolysaccharidosis, Type Vi:

(show top 50) (show all 115)
# Title Authors Year
1
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics. ( 30669586 )
2019
2
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review. ( 30740728 )
2019
3
Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. ( 29157190 )
2018
4
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). ( 29971196 )
2018
5
Medically uncontrolled intraocular pressure in mucopolysaccharidosis type VI. ( 29971925 )
2018
6
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. ( 30118150 )
2018
7
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. ( 30335002 )
2018
8
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. ( 30524696 )
2018
9
New treatment method for mucopolysaccharidosis type VI by liver transplantation. ( 30548979 )
2018
10
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up. ( 28983456 )
2017
11
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. ( 27797586 )
2017
12
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). ( 27826022 )
2017
13
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI. ( 28932756 )
2017
14
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. ( 28552677 )
2017
15
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. ( 27164636 )
2016
16
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. ( 26943923 )
2016
17
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI. ( 25797215 )
2015
18
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. ( 28649537 )
2015
19
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. ( 26615596 )
2015
20
Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. ( 25750448 )
2015
21
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. ( 26609033 )
2015
22
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. ( 25100895 )
2014
23
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. ( 25060283 )
2014
24
Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. ( 24964042 )
2014
25
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. ( 24677745 )
2014
26
Anesthetic Challenges in an Adult with Mucopolysaccharidosis Type VI. ( 25612205 )
2014
27
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. ( 23458163 )
2013
28
New insights in mucopolysaccharidosis type VI: Neurological perspective. ( 23972383 )
2013
29
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23192728 )
2013
30
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. ( 23194248 )
2013
31
Up to five years experience with 11 mucopolysaccharidosis type VI patients. ( 23523338 )
2013
32
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 23949968 )
2013
33
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. ( 23557332 )
2013
34
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. ( 22704873 )
2013
35
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. ( 24373060 )
2013
36
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. ( 23633437 )
2013
37
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. ( 23826140 )
2013
38
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
39
Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. ( 23311386 )
2013
40
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. ( 23974652 )
2013
41
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. ( 22133300 )
2012
42
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. ( 22299127 )
2012
43
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). ( 21737154 )
2012
44
Teaching NeuroImages: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in a previously undiagnosed infant. ( 22351802 )
2012
45
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. ( 22684871 )
2012
46
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. ( 22336888 )
2012
47
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
48
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. ( 23023219 )
2012
49
Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations. ( 22869947 )
2012
50
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. ( 22329490 )
2012
Sources

Variations for Mucopolysaccharidosis, Type Vi

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

76 (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 rs119632559
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 rs749465732

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Vi:

6 (show top 50) (show all 606)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSB NM_000046.4(ARSB): c.944G> A (p.Arg315Gln) single nucleotide variant Pathogenic/Likely pathogenic rs727503809 GRCh37 Chromosome 5, 78181605: 78181605
2 ARSB NM_000046.4(ARSB): c.944G> A (p.Arg315Gln) single nucleotide variant Pathogenic/Likely pathogenic rs727503809 GRCh38 Chromosome 5, 78885782: 78885782
3 ARSB NM_000046.4(ARSB): c.1450A> G (p.Arg484Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201101343 GRCh37 Chromosome 5, 78076372: 78076372
4 ARSB NM_000046.4(ARSB): c.1450A> G (p.Arg484Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201101343 GRCh38 Chromosome 5, 78780549: 78780549
5 ARSB NM_000046.4(ARSB): c.98C> T (p.Ala33Val) single nucleotide variant Benign/Likely benign rs201168448 GRCh37 Chromosome 5, 78280974: 78280974
6 ARSB NM_000046.4(ARSB): c.98C> T (p.Ala33Val) single nucleotide variant Benign/Likely benign rs201168448 GRCh38 Chromosome 5, 78985151: 78985151
7 ARSB NM_000046.4(ARSB): c.410G> T (p.Gly137Val) single nucleotide variant Uncertain significance rs118203938 GRCh37 Chromosome 5, 78264918: 78264918
8 ARSB NM_000046.4(ARSB): c.410G> T (p.Gly137Val) single nucleotide variant Uncertain significance rs118203938 GRCh38 Chromosome 5, 78969095: 78969095
9 ARSB NM_000046.4(ARSB): c.349T> C (p.Cys117Arg) single nucleotide variant Likely pathogenic rs118203939 GRCh37 Chromosome 5, 78264979: 78264979
10 ARSB NM_000046.4(ARSB): c.349T> C (p.Cys117Arg) single nucleotide variant Likely pathogenic rs118203939 GRCh38 Chromosome 5, 78969156: 78969156
11 ARSB NM_000046.4(ARSB): c.707T> C (p.Leu236Pro) single nucleotide variant Uncertain significance rs118203940 GRCh37 Chromosome 5, 78251309: 78251309
12 ARSB NM_000046.4(ARSB): c.707T> C (p.Leu236Pro) single nucleotide variant Uncertain significance rs118203940 GRCh38 Chromosome 5, 78955486: 78955486
13 ARSB NM_000046.4(ARSB): c.1214G> A (p.Cys405Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs118203941 GRCh37 Chromosome 5, 78077797: 78077797
14 ARSB NM_000046.4(ARSB): c.1214G> A (p.Cys405Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs118203941 GRCh38 Chromosome 5, 78781974: 78781974
15 ARSB NM_000046.4(ARSB): c.238del (p.Val80Cysfs) deletion Pathogenic rs431905493 GRCh37 Chromosome 5, 78280834: 78280834
16 ARSB NM_000046.4(ARSB): c.238del (p.Val80Cysfs) deletion Pathogenic rs431905493 GRCh38 Chromosome 5, 78985011: 78985011
17 ARSB NM_000046.4(ARSB): c.743del (p.Pro248Leufs) deletion Pathogenic rs431905494 GRCh37 Chromosome 5, 78251273: 78251273
18 ARSB NM_000046.4(ARSB): c.743del (p.Pro248Leufs) deletion Pathogenic rs431905494 GRCh38 Chromosome 5, 78955450: 78955450
19 ARSB NM_000046.4(ARSB): c.215T> A (p.Leu72Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs397514441 GRCh37 Chromosome 5, 78280857: 78280857
20 ARSB NM_000046.4(ARSB): c.215T> A (p.Leu72Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs397514441 GRCh38 Chromosome 5, 78985034: 78985034
21 ARSB NM_000046.4(ARSB): c.284G> A (p.Arg95Gln) single nucleotide variant Pathogenic/Likely pathogenic rs118203942 GRCh37 Chromosome 5, 78280788: 78280788
22 ARSB NM_000046.4(ARSB): c.284G> A (p.Arg95Gln) single nucleotide variant Pathogenic/Likely pathogenic rs118203942 GRCh38 Chromosome 5, 78984965: 78984965
23 ARSB NM_000046.4(ARSB): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs118203943 GRCh37 Chromosome 5, 78260300: 78260300
24 ARSB NM_000046.4(ARSB): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs118203943 GRCh38 Chromosome 5, 78964477: 78964477
25 ARSB NM_000046.4(ARSB): c.1178A> C (p.His393Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs118203944 GRCh37 Chromosome 5, 78135214: 78135214
26 ARSB NM_000046.4(ARSB): c.1178A> C (p.His393Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs118203944 GRCh38 Chromosome 5, 78839391: 78839391
27 ARSB NM_000046.4(ARSB): c.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh37 Chromosome 5, 78135250: 78135250
28 ARSB NM_000046.4(ARSB): c.1143-1G> C single nucleotide variant Pathogenic rs431905495 GRCh38 Chromosome 5, 78839427: 78839427
29 ARSB NM_000046.4(ARSB): c.1143-8T> G single nucleotide variant Likely pathogenic rs431905496 GRCh37 Chromosome 5, 78135257: 78135257
30 ARSB NM_000046.4(ARSB): c.1143-8T> G single nucleotide variant Likely pathogenic rs431905496 GRCh38 Chromosome 5, 78839434: 78839434
31 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh37 Chromosome 7, 65444769: 65444769
32 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh38 Chromosome 7, 65979782: 65979782
33 ARSB NM_000046.4(ARSB): c.1072G> A (p.Val358Met) single nucleotide variant Benign rs1065757 GRCh37 Chromosome 5, 78181477: 78181477
34 ARSB NM_000046.4(ARSB): c.1072G> A (p.Val358Met) single nucleotide variant Benign rs1065757 GRCh38 Chromosome 5, 78885654: 78885654
35 ARSB NM_000046.3(ARSB): c.1126G> A (p.Val376Met) single nucleotide variant Benign/Likely benign rs1071598 GRCh37 Chromosome 5, 78181423: 78181423
36 ARSB NM_000046.3(ARSB): c.1126G> A (p.Val376Met) single nucleotide variant Benign/Likely benign rs1071598 GRCh38 Chromosome 5, 78885600: 78885600
37 ARSB NM_000046.4(ARSB): c.1151G> A (p.Ser384Asn) single nucleotide variant Benign/Likely benign rs25414 GRCh37 Chromosome 5, 78135241: 78135241
38 ARSB NM_000046.4(ARSB): c.1151G> A (p.Ser384Asn) single nucleotide variant Benign/Likely benign rs25414 GRCh38 Chromosome 5, 78839418: 78839418
39 ARSB NM_000046.3(ARSB): c.1191G> A (p.Pro397=) single nucleotide variant Benign rs25413 GRCh37 Chromosome 5, 78135201: 78135201
40 ARSB NM_000046.3(ARSB): c.1191G> A (p.Pro397=) single nucleotide variant Benign rs25413 GRCh38 Chromosome 5, 78839378: 78839378
41 ARSB NM_000046.4(ARSB): c.971G> T (p.Gly324Val) single nucleotide variant Pathogenic/Likely pathogenic rs398123125 GRCh37 Chromosome 5, 78181578: 78181578
42 ARSB NM_000046.4(ARSB): c.971G> T (p.Gly324Val) single nucleotide variant Pathogenic/Likely pathogenic rs398123125 GRCh38 Chromosome 5, 78885755: 78885755
43 ARSB NM_000046.3(ARSB): c.972A> G (p.Gly324=) single nucleotide variant Benign/Likely benign rs72762973 GRCh37 Chromosome 5, 78181577: 78181577
44 ARSB NM_000046.3(ARSB): c.972A> G (p.Gly324=) single nucleotide variant Benign/Likely benign rs72762973 GRCh38 Chromosome 5, 78885754: 78885754
45 ARSB NM_000046.3: c.384_386delCTC deletion Pathogenic
46 ARSB NM_000046.4(ARSB): c.691-22T> C single nucleotide variant Benign rs6870443 GRCh37 Chromosome 5, 78251347: 78251347
47 ARSB NM_000046.4(ARSB): c.691-22T> C single nucleotide variant Benign rs6870443 GRCh38 Chromosome 5, 78955524: 78955524
48 ARSB NM_000046.3(ARSB): c.290A> G (p.Gln97Arg) single nucleotide variant Likely pathogenic rs886039914 GRCh38 Chromosome 5, 78984959: 78984959
49 ARSB NM_000046.3(ARSB): c.290A> G (p.Gln97Arg) single nucleotide variant Likely pathogenic rs886039914 GRCh37 Chromosome 5, 78280782: 78280782
50 ARSB NM_000046.3(ARSB): c.1373A> G (p.Asn458Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144222167 GRCh37 Chromosome 5, 78076449: 78076449
Sources

Expression for Mucopolysaccharidosis, Type Vi

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

Pathways for Mucopolysaccharidosis, Type Vi

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Pathways related to Mucopolysaccharidosis, Type Vi according to KEGG:

38
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

Pathways related to Mucopolysaccharidosis, Type Vi according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 67
Show member pathways
 13.43 ARSA ARSB ARSH GAA GALNS GUSB
2
Glycosaminoglycan metabolism 67
Show member pathways
 12.29 ARSB GAA GUSB
3
Sphingolipid metabolism 38 67 1
Show member pathways
 11.84 ARSA ARSB ARSH
4
Gamma carboxylation, hypusine formation and arylsulfatase activation 67
Show member pathways
 11.37 ARSA ARSB ARSH
5
Lysosome 38
11.11 ARSA ARSB GAA GALNS GUSB
6
Glycosaminoglycan degradation 38
Show member pathways
 10.43 ARSB GALNS GUSB
Sources

GO Terms for Mucopolysaccharidosis, Type Vi

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.72 ARSA ARSB GAA GALNS GUSB
2 lysosome GO:0005764 9.55 ARSA ARSB GAA GALNS GUSB
3 endoplasmic reticulum lumen GO:0005788 9.43 ARSA ARSB ARSH
4 azurophil granule lumen GO:0035578 9.26 ARSA ARSB GALNS GUSB
5 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 response to nutrient GO:0007584 9.37 ARSA ARSB
2 response to estrogen GO:0043627 9.32 ARSA ARSB
3 lysosome organization GO:0007040 9.26 ARSB GAA
4 response to pH GO:0009268 9.16 ARSA ARSB
5 neutrophil degranulation GO:0043312 9.02 ARSA ARSB GAA GALNS GUSB
6 response to methylmercury GO:0051597 8.96 ARSA ARSB

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 9.32 GAA GUSB
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

Sources for Mucopolysaccharidosis, Type Vi

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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