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MPS6
MCID: MCP052
MIFTS: 67

Mucopolysaccharidosis, Type Vi (MPS6)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological 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 57 37
Mucopolysaccharidosis Type Vi 57 20 43 58 72 36 13 39
Arylsulfatase B Deficiency 57 12 20 43 58 72
Maroteaux-Lamy Syndrome 57 12 73 43 72 54
Mucopolysaccharidosis Vi 12 43 44 15 70
Mps Vi 57 73 20 43 72
Mucopolysaccharidosis Type 6 20 58 29 6
Arsb Deficiency 57 20 58 72
Mps6 57 43 58 72
N-Acetylgalactosamine-4-Sulfatase Deficiency 57 20 72
Mucopolysaccharidosis 6 43 72
Deficiency of N-Acetylgalactosamine-4-Sulfatase 12
N-Acetylgalactosamine 4-Sulfatase Deficiency 58
Mps Vi - Maroteaux-Lamy Syndrome 12
Mucopoly-Saccharidosis Type Vi 20
Maroteaux - Lamy Syndrome 12
Maroteaux Lamy Syndrome 20
Polydystrophic Dwarfism 43
Maroteaux-Lamy Disease 58
Asb Deficiency 58
Mps 6 20
Mpsvi 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mucopolysaccharidosis, type vi:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Neuronal diseases Respiratory diseases Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Sources

Summaries for Mucopolysaccharidosis, Type Vi

About this section
GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 583 Definition Mucopolysaccharidosis 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. Epidemiology Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. Clinical description The 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 <100 microgram/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS 6, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. Etiology The 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 methods Diagnosis 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 diagnosis In 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 treatment Before enzyme replacement therapy (ERT) with galsulfase (NaglazymeR), 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. Prognosis Prognosis 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.

MalaCards based summary : Mucopolysaccharidosis, Type Vi, also known as mucopolysaccharidosis type vi, is related to multiple sulfatase deficiency and hurler 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 have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and spleen, 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.

MedlinePlus Genetics : 43 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.People with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Affected individuals also frequently develop heart valve abnormalities, an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VI, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) typically becomes cloudy, which can cause significant vision loss. People with MPS VI may also have recurrent ear infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI does not affect intelligence.MPS VI causes various skeletal abnormalities, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VI and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VI may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.The life expectancy of individuals with MPS VI depends on the severity of symptoms. Without treatment, severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Heart disease and airway obstruction are major causes of death in people with MPS VI.

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) (Updated 20-May-2021)

KEGG : 36 Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.

UniProtKB/Swiss-Prot : 72 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 : 73 Maroteaux-Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a... 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

Diseases related to Mucopolysaccharidosis, Type Vi via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 multiple sulfatase deficiency 31.2 SUMF1 GNS GALNS ARSH ARSB ARSA
2 hurler syndrome 30.8 SUMF1 NAGLU IDUA IDS GUSB GNS
3 mucopolysaccharidoses 30.6 NAGLU IDUA GUSB ARSH ARSB
4 morquio syndrome 30.3 GUSB GLB1 GALNS ARSH
5 leukodystrophy 30.3 SUMF1 IDUA ARSH ARSB ARSA
6 glycoproteinosis 30.2 GLB1 GALNS ARSB
7 sandhoff disease 30.1 GLB1 GLA ARSA
8 mannosidosis, alpha b, lysosomal 30.1 IDUA GUSB
9 metachromatic leukodystrophy 30.0 SUMF1 M6PR IDUA IDS GLA ARSH
10 mucolipidosis 29.4 SUMF1 M6PR IDUA GLB1 GALNS ARSH
11 lysosomal storage disease 29.1 SUMF1 NAGLU M6PR IDUA IDS GUSB
12 mucopolysaccharidosis-plus syndrome 29.1 SUMF1 SI NAGLU MGAM M6PR IDUA
13 inherited metabolic disorder 29.0 SI MGAM IDUA GLA GBA BLOC1S1
14 scheie syndrome 27.4 SUMF1 SI NAGLU MGAM IDUA IDS
15 mucopolysaccharidosis iv 27.1 SUMF1 SI NAGLU MGAM M6PR IDUA
16 mucopolysaccharidosis type 6, slowly progressing 11.2
17 mucopolysaccharidosis type 6, rapidly progressing 11.2
18 autosomal recessive disease 10.4
19 dysostosis 10.4
20 lysosomal storage disease with skeletal involvement 10.4
21 sleep apnea 10.3
22 hydrocephalus 10.3
23 osteochondrodysplasia 10.3
24 cerebral lipidosis 10.3 M6PR GLB1
25 mitral valve stenosis 10.3
26 48,xyyy 10.3
27 pulmonary hypertension 10.2
28 gm1-gangliosidosis, type ii 10.2 IDS GLB1
29 immune hydrops fetalis 10.2 GUSB GBA
30 endocardial fibroelastosis 10.1
31 graft-versus-host disease 10.1
32 congestive heart failure 10.1
33 spinal stenosis 10.1
34 mongolian spot 10.1 NAGLU IDUA GLB1
35 tracheal stenosis 10.1
36 aortic valve disease 1 10.1
37 pycnodysostosis 10.1
38 atrioventricular block 10.1
39 open-angle glaucoma 10.1
40 corneal deposit 10.1
41 multiple epiphyseal dysplasia 10.1
42 cholestasis 10.1
43 acute closed-angle glaucoma 10.1
44 chronic closed-angle glaucoma 10.1
45 radiculopathy 10.1
46 pituitary gland disease 10.1
47 refractive error 10.1
48 growth hormone deficiency 10.1
49 mucolipidoses 10.1
50 lysosomal disease 10.1

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

About this section

Human phenotypes related to Mucopolysaccharidosis, Type Vi:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
4 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
5 mucopolysacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008155
6 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
7 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
8 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
9 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
10 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
11 disproportionate short-trunk short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003521
12 opacification of the corneal stroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007759
13 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
14 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
15 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
16 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
17 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
18 broad ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000885
19 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
20 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
21 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
22 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
23 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
24 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
25 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
26 macrocephaly 31 HP:0000256
27 hydrocephalus 31 HP:0000238
28 hepatomegaly 31 HP:0002240
29 depressed nasal bridge 31 HP:0005280
30 inguinal hernia 31 HP:0000023
31 hip dysplasia 31 HP:0001385
32 avascular necrosis 31 HP:0010885
33 umbilical hernia 31 HP:0001537
34 dysostosis multiplex 31 HP:0000943
35 malformation of the heart and great vessels 58 Occasional (29-5%)
36 dolichocephaly 31 HP:0000268
37 glaucoma 31 HP:0000501
38 split hand 31 HP:0001171
39 cardiomyopathy 31 HP:0001638
40 hypoplasia of the odontoid process 31 HP:0003311
41 prominent sternum 31 HP:0000884
42 constrictive median neuropathy 31 HP:0012185
43 hirsutism 31 HP:0001007
44 flared iliac wings 31 HP:0002869
45 hypoplastic iliac wing 31 HP:0002866
46 metaphyseal widening 31 HP:0003016
47 metaphyseal irregularity 31 HP:0003025
48 lumbar hyperlordosis 31 HP:0002938
49 hypoplastic acetabulae 31 HP:0003274
50 dermatan sulfate excretion in urine 31 HP:0008301

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Head And Neck Mouth:
macroglossia
thickened lips

Abdomen Liver:
hepatomegaly

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

Skeletal:
dysostosis multiplex

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

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

Head And Neck Ears:
hearing loss

Skeletal Hands:
claw hand deformities

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

Skin Nails Hair Hair:
hirsutism, mild

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

Neurologic Central Nervous System:
hydrocephalus
cervical myelopathy
normal intelligence

Abdomen Spleen:
splenomegaly

Abdomen External Features:
inguinal hernia
umbilical hernia

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

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs
prominent sternum

Head And Neck Eyes:
glaucoma
corneal clouding

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)

Head And Neck Face:
coarse facies, mild

Skeletal Skull:
large omega-shaped sella
large dolichocephalic skull

Clinical features from OMIM®:

253200 (Updated 20-May-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Vi:


joint stiffness

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.74 BLOC1S1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.74 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.74 ARSB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.74 GALNS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.74 ARSB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 BLOC1S1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.74 IDS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 BLOC1S1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.74 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.74 IDS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.74 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.74 GALNS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.74 IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.74 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.74 ARSB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 ARSB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.74 IDS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 BLOC1S1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.74 IDS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 GALNS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.74 GALNS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.74 BLOC1S1 GALNS IDS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.74 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ARSA ARSB CHST3 GBA GLA GLB1
2 cellular MP:0005384 10.22 ARSB BLOC1S1 GALNS GBA GLA GLB1
3 hematopoietic system MP:0005397 10.1 ARSA ARSB CHST3 GBA GLB1 GNS
4 nervous system MP:0003631 9.93 ARSA ARSB CHST3 EXOC1 GBA GLA
5 hearing/vestibular/ear MP:0005377 9.91 ARSA ARSB EXOC1 GUSB IDS IDUA
6 liver/biliary system MP:0005370 9.8 GBA GLA GLB1 IDS IDUA NAGLU
7 renal/urinary system MP:0005367 9.61 ARSB GALNS GLA GLB1 GUSB IDS
8 skeleton MP:0005390 9.36 ARSB CHST3 GALNS GBA GLB1 GUSB
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 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Hormones Phase 2, Phase 3
3
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
8
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1 16219006
9
tannic acid Approved Phase 2 1401-55-4
10
Mesna Approved, Investigational Phase 2 3375-50-6 598
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
14
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
15
Losartan Approved Phase 2 114798-26-4 3961
16
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
17
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
18
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
19
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
20
Tocopherol Approved, Investigational Phase 2 1406-66-2
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
rituximab Approved Phase 2 174722-31-7 10201696
23
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
24
Busulfan Approved, Investigational Phase 2 55-98-1 2478
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
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 Methylprednisolone Acetate Phase 2
30 Thymoglobulin Phase 2
31 Anti-Inflammatory Agents Phase 1, Phase 2
32 Anti-Bacterial Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Antitubercular Agents Phase 2
35 Antifungal Agents Phase 2
36 Cyclosporins Phase 2
37 Anti-Infective Agents Phase 2
38 Dermatologic Agents Phase 2
39 Calcineurin Inhibitors Phase 2
40 Antilymphocyte Serum Phase 2
41 Liver Extracts Phase 1, Phase 2
42 Anti-Arrhythmia Agents Phase 2
43 Angiotensin II Type 1 Receptor Blockers Phase 2
44 Angiotensin Receptor Antagonists Phase 2
45 Giapreza Phase 2
46 Angiotensinogen Phase 2
47 Antihypertensive Agents Phase 2
48 Alpha-lipoic Acid Phase 2
49 Tocotrienols Phase 2
50 Vitamins Phase 2

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI) Completed NCT00299000 Phase 4 Naglazyme
2 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
3 A Multicenter, Multinational Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
4 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
5 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
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 A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI Completed NCT03370653 Phase 2 Odiparcil
8 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
9 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
10 A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to Liver Recruiting NCT03173521 Phase 1, Phase 2
11 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
12 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
14 Double-Blind,2 Dose Group Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI Completed NCT00048620 Phase 1 N-acetylgalactosamine 4-sulfatase
15 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
16 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
17 MPS VI Clinical Surveillance Program (CSP) Completed NCT00214773
18 A Re-Survey Study of Patients With MPS VI (Maroteaux-Lamy Syndrome) Who Previously Participated in ASB-00-02 Completed NCT01387854
19 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
20 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
21 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
22 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
23 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
24 Study of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy Syndrome Terminated NCT02156674 Naglazyme®
25 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674

Search NIH Clinical Center for Mucopolysaccharidosis, Type Vi

Inferred drug relations via UMLS 70 / NDF-RT 51 :


galsulfase

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 6 29 ARSB
Sources

Anatomical Context for Mucopolysaccharidosis, Type Vi

About this section

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Vi:

40
Eye, Heart, Spleen, Tongue, Bone Marrow, Bone, Liver
Sources

Publications for Mucopolysaccharidosis, Type Vi

About this section

Articles related to Mucopolysaccharidosis, Type Vi:

(show top 50) (show all 292)
# Title Authors PMID Year
1
Maroteaux-lamy syndrome: five novel mutations and their structural localization. 61 6 57 54
10036316 1999
2
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. 61 54 6 57
8651289 1996
3
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. 6 57 54 61
1550123 1992
4
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype. 61 6 57 54
1301949 1992
5
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. 6 57 61
30118150 2018
6
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. 54 6 57
17643332 2007
7
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. 6 61 54
20143913 2010
8
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. 6 54 61
18486607 2008
9
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. 54 6 61
17672828 2008
10
Mutational analysis of 105 mucopolysaccharidosis type VI patients. 6 54 61
17458871 2007
11
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. 6 54 61
17161971 2007
12
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. 54 61 6
14974081 2004
13
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network. 61 6 54
11939792 2002
14
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation. 54 61 6
11802522 2001
15
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. 57 54 61
11668612 2001
16
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. 61 6 54
10923267 2000
17
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online. 54 6 61
10206678 1998
18
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 61 6 54
8116615 1994
19
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. 57 61 54
1901688 1991
20
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation. 61 6
32075597 2020
21
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. 6 61
30982216 2019
22
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. 6 61
30524696 2018
23
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. 6 61
28884960 2017
24
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. 61 6
28552677 2017
25
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 6 61
27826022 2017
26
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. 61 6
27797586 2017
27
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings. 6 61
26910003 2016
28
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. 6 61
28649537 2015
29
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 6 61
26609033 2015
30
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI. 61 6
25797215 2015
31
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 61 6
24373060 2014
32
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. 6 61
24677745 2014
33
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 61 6
25190157 2014
34
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. 61 6
24221504 2014
35
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy. 61 6
24262793 2014
36
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. 61 6
23458163 2014
37
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene. 61 6
24243352 2014
38
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). 6 61
23949968 2013
39
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. 6 61
23633437 2013
40
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 6 61
23557332 2013
41
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. 61 6
22971959 2013
42
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. 61 6
23657977 2013
43
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. 6 61
22133300 2012
44
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. 61 6
23430861 2012
45
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. 6 61
21917494 2011
46
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. 61 6
21996138 2011
47
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. 6 61
21930407 2011
48
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. 61 6
21514195 2011
49
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. 54 6
19259130 2009
50
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. 6 54
18406185 2008
Sources

Variations for Mucopolysaccharidosis, Type Vi

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ClinVar genetic disease variations for Mucopolysaccharidosis, Type Vi:

6 (show top 50) (show all 401)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARSB NM_000046.5(ARSB):c.1143-1G>C SNV Pathogenic 887 rs431905495 GRCh37: 5:78135250-78135250
GRCh38: 5:78839427-78839427
2 ARSB NM_000046.3:c.384_386delCTC Deletion Pathogenic 100718 GRCh37:
GRCh38:
3 GUSB NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) SNV Pathogenic 495724 rs1434169374 GRCh37: 7:65439336-65439336
GRCh38: 7:65974349-65974349
4 ARSB NM_000046.5(ARSB):c.257del (p.Tyr86fs) Deletion Pathogenic 445286 rs1554032122 GRCh37: 5:78280815-78280815
GRCh38: 5:78984992-78984992
5 ARSB NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) SNV Pathogenic 445287 rs1554032099 GRCh37: 5:78280791-78280791
GRCh38: 5:78984968-78984968
6 ARSB NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) Insertion Pathogenic 445288 rs1554032196 GRCh37: 5:78280882-78280883
GRCh38: 5:78985059-78985060
7 ARSB NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) SNV Pathogenic 445289 rs1554032220 GRCh37: 5:78280920-78280920
GRCh38: 5:78985097-78985097
8 ARSB NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) SNV Pathogenic 445291 rs1255777033 GRCh37: 5:78264850-78264850
GRCh38: 5:78969027-78969027
9 ARSB NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del Deletion Pathogenic 559662 GRCh37:
GRCh38: 5:78885828-78964415
10 ARSB NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del Deletion Pathogenic 559663 GRCh37:
GRCh38: 5:78839427-78955294
11 ARSB NM_000046.5(ARSB):c.1036del (p.Glu346fs) Deletion Pathogenic 559667 rs1554079302 GRCh37: 5:78181513-78181513
GRCh38: 5:78885690-78885690
12 ARSB NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter) SNV Pathogenic 559671 rs1554079296 GRCh37: 5:78181490-78181490
GRCh38: 5:78885667-78885667
13 ARSB NM_000046.5(ARSB):c.1142+2T>C SNV Pathogenic 559680 rs781510986 GRCh37: 5:78181405-78181405
GRCh38: 5:78885582-78885582
14 ARSB NM_000046.5(ARSB):c.1142+1G>T SNV Pathogenic 559678 rs746396210 GRCh37: 5:78181406-78181406
GRCh38: 5:78885583-78885583
15 ARSB NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) SNV Pathogenic 559830 rs1554079320 GRCh37: 5:78181587-78181587
GRCh38: 5:78885764-78885764
16 ARSB NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) SNV Pathogenic 559831 rs1554079318 GRCh37: 5:78181583-78181583
GRCh38: 5:78885760-78885760
17 ARSB NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) SNV Pathogenic 559832 rs773492223 GRCh37: 5:78181570-78181570
GRCh38: 5:78885747-78885747
18 ARSB NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) SNV Pathogenic 644772 rs1580121683 GRCh37: 5:78251193-78251193
GRCh38: 5:78955370-78955370
19 ARSB NC_000005.10:g.(?_78964406)_(78969202_?)del Deletion Pathogenic 831749 GRCh37: 5:78260229-78265025
GRCh38:
20 ARSB NC_000005.10:g.(?_78885574)_(78885837_?)del Deletion Pathogenic 832751 GRCh37: 5:78181397-78181660
GRCh38:
21 ARSB NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) Duplication Pathogenic 852181 GRCh37: 5:78077711-78077712
GRCh38: 5:78781888-78781889
22 ARSB NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) SNV Pathogenic 862387 GRCh37: 5:78181513-78181513
GRCh38: 5:78885690-78885690
23 ARSB NM_000046.5(ARSB):c.899-1337_1142+1055del Deletion Pathogenic 559818 GRCh37: 5:78180352-78182987
GRCh38: 5:78884529-78887164
24 ARSB NM_000046.5(ARSB):c.743del (p.Pro248fs) Deletion Pathogenic 882 rs431905494 GRCh37: 5:78251273-78251273
GRCh38: 5:78955450-78955450
25 ARSB NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) SNV Pathogenic 559799 rs773460207 GRCh37: 5:78260340-78260340
GRCh38: 5:78964517-78964517
26 ARSB NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) SNV Pathogenic 488679 rs371886102 GRCh37: 5:78260358-78260358
GRCh38: 5:78964535-78964535
27 ARSB NM_000046.5(ARSB):c.498del (p.Phe166fs) Deletion Pathogenic 559791 rs1554088002 GRCh37: 5:78264830-78264830
GRCh38: 5:78969007-78969007
28 ARSB NM_000046.5(ARSB):c.307_312+147del Deletion Pathogenic 559767 rs1554089838 GRCh37: 5:78280613-78280765
GRCh38: 5:78984790-78984942
29 ARSB NM_000046.5(ARSB):c.270_274del (p.Cys91fs) Deletion Pathogenic 559755 rs1554032110 GRCh37: 5:78280798-78280802
GRCh38: 5:78984975-78984979
30 ARSB NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) SNV Pathogenic 559752 rs1299207831 GRCh37: 5:78280810-78280810
GRCh38: 5:78984987-78984987
31 ARSB NM_000046.5(ARSB):c.238del (p.Val80fs) Deletion Pathogenic 881 rs431905493 GRCh37: 5:78280834-78280834
GRCh38: 5:78985011-78985011
32 ARSB NM_000046.5(ARSB):c.208_215del (p.Pro70fs) Deletion Pathogenic 559738 rs1554032155 GRCh37: 5:78280857-78280864
GRCh38: 5:78985034-78985041
33 ARSB NM_000046.5(ARSB):c.1577del (p.Thr526fs) Deletion Pathogenic 559724 rs1554069660 GRCh37: 5:78076245-78076245
GRCh38: 5:78780422-78780422
34 ARSB NM_000046.5(ARSB):c.1208del (p.Ser403fs) Deletion Pathogenic 559690 rs1554074124 GRCh37: 5:78135184-78135184
GRCh38: 5:78839361-78839361
35 ARSB NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter) SNV Pathogenic 559689 rs771296632 GRCh37: 5:78135184-78135184
GRCh38: 5:78839361-78839361
36 ARSB NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) SNV Pathogenic 559709 rs200188234 GRCh37: 5:78076456-78076456
GRCh38: 5:78780633-78780633
37 ARSB NM_000046.5(ARSB):c.1336+2T>G SNV Pathogenic 559702 rs768012515 GRCh37: 5:78077673-78077673
GRCh38: 5:78781850-78781850
38 ARSB NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter) SNV Pathogenic 559694 rs1554069793 GRCh37: 5:78077750-78077750
GRCh38: 5:78781927-78781927
39 ARSB GRCh37/hg19 5q14.1(chr5:78111022-78111871) copy number loss Pathogenic 915978 GRCh37: 5:78111022-78111871
GRCh38:
40 ARSB NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) SNV Pathogenic 952974 GRCh37: 5:78280762-78280762
GRCh38: 5:78984939-78984939
41 ARSB NM_000046.5(ARSB):c.385del (p.Leu129fs) Deletion Pathogenic 957464 GRCh37: 5:78264943-78264943
GRCh38: 5:78969120-78969120
42 ARSB NM_000046.5(ARSB):c.264G>T (p.Gln88His) SNV Pathogenic 974862 GRCh37: 5:78280808-78280808
GRCh38: 5:78984985-78984985
43 ARSB NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) SNV Pathogenic 885 rs118203943 GRCh37: 5:78260300-78260300
GRCh38: 5:78964477-78964477
44 ARSB NM_000046.5(ARSB):c.116_123del (p.Ala39fs) Deletion Pathogenic 495377 rs1554032243 GRCh37: 5:78280949-78280956
GRCh38: 5:78985126-78985133
45 GUSB NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) SNV Pathogenic 905 rs121918181 GRCh37: 7:65444769-65444769
GRCh38: 7:65979782-65979782
46 ARSB NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) SNV Pathogenic 496789 rs991104525 GRCh37: 5:78264874-78264874
GRCh38: 5:78969051-78969051
47 ARSB NM_000046.5(ARSB):c.427del (p.Val143fs) Deletion Pathogenic 559782 rs766914147 GRCh37: 5:78264901-78264901
GRCh38: 5:78969078-78969078
48 ARSB NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) SNV Pathogenic 488822 rs765711776 GRCh37: 5:78251263-78251263
GRCh38: 5:78955440-78955440
49 ARSB NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) SNV Pathogenic/Likely pathogenic 559740 rs397514441 GRCh37: 5:78280857-78280857
GRCh38: 5:78985034-78985034
50 ARSB NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) SNV Pathogenic/Likely pathogenic 166694 rs727503809 GRCh37: 5:78181605-78181605
GRCh38: 5:78885782-78885782

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

72 (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 rs123333180
14 ARSB p.Pro116His VAR_019019 rs775780931
15 ARSB p.Met142Ile VAR_019020 rs155408805
16 ARSB p.Gly144Arg VAR_019021 rs746206847
17 ARSB p.Trp146Leu VAR_019022 rs155408803
18 ARSB p.Trp146Arg VAR_019023 rs155408803
19 ARSB p.Trp146Ser VAR_019024 rs155408803
20 ARSB p.Cys192Arg VAR_019025 rs155408742
21 ARSB p.Gln239Arg VAR_019026 rs155408643
22 ARSB p.Trp312Cys VAR_019027 rs759384989
23 ARSB p.Arg315Gln VAR_019028 rs727503809
24 ARSB p.Leu321Pro VAR_019029 rs155407932
25 ARSB p.Phe399Leu VAR_019031 rs200793396
26 ARSB p.Arg484Gly VAR_019032 rs201101343
27 ARSB p.Cys521Tyr VAR_019033 rs155406966
28 ARSB p.Pro531Arg VAR_019034 rs155406965
29 ARSB p.Leu82Arg VAR_080270 rs749465732

Sources

Expression for Mucopolysaccharidosis, Type Vi

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

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Pathways related to Mucopolysaccharidosis, Type Vi according to KEGG:

36
# 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 65
Show member pathways
 13.88 SUMF1 SI NAGLU MGAM IDUA IDS
2
Glycosaminoglycan metabolism 65
Show member pathways
 12.61 SI NAGLU MGAM IDUA IDS GUSB
3
Chondroitin sulfate/dermatan sulfate metabolism 65
Show member pathways
 12.42 NAGLU IDUA IDS GUSB GLB1 CHST3
4
Sphingolipid metabolism 36 65 1
Show member pathways
 12.21 SUMF1 GLB1 GLA GBA ARSH ARSB
5
Galactose metabolism 36 23
Show member pathways
 11.82 SI MGAM GLB1 GLA
6
Gamma carboxylation, hypusine formation and arylsulfatase activation 65
Show member pathways
 11.74 SUMF1 ARSH ARSB ARSA
7
Lysosome 36
11.54 SUMF1 NAGLU M6PR IDUA IDS GUSB
8
Glycosaminoglycan degradation 36
Show member pathways
 10.86 NAGLU IDUA IDS GUSB GNS GLB1
9
Other glycan degradation 36
10.73 GLB1 GBA
10
Digestion of dietary carbohydrate 65
10.41 SI MGAM
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 10.03 SI NAGLU MGAM IDUA GUSB GNS
2 Golgi apparatus GO:0005794 9.91 SI M6PR GLB1 GLA GBA CHST3
3 endoplasmic reticulum lumen GO:0005788 9.71 SUMF1 ARSH ARSB ARSA
4 azurophil granule lumen GO:0035578 9.7 GUSB GNS GLB1 GLA GALNS ARSB
5 lysosomal lumen GO:0043202 9.7 NAGLU IDUA IDS GUSB GNS GLB1
6 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
7 lysosome GO:0005764 9.44 NAGLU M6PR IDUA IDS GUSB GNS

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.92 MGAM GUSB GNS GLB1 GLA GALNS
2 carbohydrate metabolic process GO:0005975 9.8 SI MGAM IDUA GUSB GLB1 GLA
3 central nervous system development GO:0007417 9.71 GBA ARSB ARSA
4 response to estrogen GO:0043627 9.69 GBA ARSB ARSA
5 lysosome organization GO:0007040 9.63 NAGLU GBA ARSB
6 chondroitin sulfate catabolic process GO:0030207 9.61 IDUA IDS ARSB
7 keratan sulfate catabolic process GO:0042340 9.58 GNS GLB1 GALNS
8 metabolic process GO:0008152 9.56 SI NAGLU MGAM IDUA GUSB GLB1
9 glycosphingolipid metabolic process GO:0006687 9.55 SUMF1 GLB1 GLA GBA ARSA
10 response to pH GO:0009268 9.54 GBA ARSB ARSA
11 lysosomal transport GO:0007041 9.52 M6PR ARSB
12 response to methylmercury GO:0051597 9.49 ARSB ARSA
13 polysaccharide digestion GO:0044245 9.48 SI MGAM
14 glycosaminoglycan catabolic process GO:0006027 9.1 NAGLU IDUA IDS GUSB GNS GLB1

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 10.1 SI NAGLU MGAM IDUA IDS GUSB
2 catalytic activity GO:0003824 9.97 SI MGAM IDS GNS GLA GALNS
3 arylsulfatase activity GO:0004065 9.67 GALNS ARSH ARSB ARSA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.63 SI MGAM IDUA GUSB GLB1 GLA
5 galactoside binding GO:0016936 9.46 GLB1 GLA
6 alpha-1,4-glucosidase activity GO:0004558 9.43 SI MGAM
7 sulfuric ester hydrolase activity GO:0008484 9.43 IDS GNS GALNS ARSH ARSB ARSA
8 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 SI NAGLU MGAM IDUA GUSB GLB1
Sources

Sources for Mucopolysaccharidosis, Type Vi

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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