MPS6
MCID: MCP052
MIFTS: 70

Mucopolysaccharidosis, Type Vi (MPS6)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Mucopolysaccharidosis, Type Vi

MalaCards integrated aliases for Mucopolysaccharidosis, Type Vi:

Name: Mucopolysaccharidosis, Type Vi 57 36
Mucopolysaccharidosis Type Vi 57 19 42 58 73 12 38
Arylsulfatase B Deficiency 57 11 19 42 58 73 33
Maroteaux-Lamy Syndrome 57 11 42 75 73 53 33
Mucopolysaccharidosis Type 6 19 58 28 5 33
Mucopolysaccharidosis Vi 11 42 43 14 71
Mps Vi 57 19 42 75 73
Arsb Deficiency 57 19 58 73
Mps6 57 42 58 73
N-Acetylgalactosamine-4-Sulfatase Deficiency 57 19 73
N-Acetylgalactosamine 4-Sulfatase Deficiency 58 33
Mucopolysaccharidosis 6 42 73
Deficiency of N-Acetylgalactosamine-4-Sulfatase 11
Arsb - [arylsulfatase B] Deficiency 33
Mps Vi - Maroteaux-Lamy Syndrome 11
Mucopoly-Saccharidosis Type Vi 19
Maroteaux - Lamy Syndrome 11
Maroteaux Lamy Syndrome 19
Polydystrophic Dwarfism 42
Maroteaux-Lamy Disease 58
Asb Deficiency 58
Mps 6 19
Mpsvi 58

Characteristics:


Inheritance:

Mucopolysaccharidosis, Type Vi: Autosomal recessive 57
Mucopolysaccharidosis Type 6: Autosomal recessive 58

Prevelance:

Mucopolysaccharidosis Type 6: 1-9/1000000 (Germany, Netherlands, Portugal, Sweden, Australia, Canada, Taiwan, Province of China, Estonia, Europe, Brazil, Switzerland, Tunisia) 1-9/100000 (Sweden, Norway, Denmark, Turkey, Saudi Arabia) <1/1000000 (Norway, Denmark, Czech Republic, Colombia, Poland, Japan, Korea, Republic of, United States) 58

Age Of Onset:

Mucopolysaccharidosis Type 6: Childhood 58

Age Of Death:

Mucopolysaccharidosis Type 6: young Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucopolysaccharidosis, Type Vi

MedlinePlus Genetics: 42 Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). 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 affect many bodily systems, including  skeletal, cardiac, and respiratory.MPS VI causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Other skeletal features include short stature, joint deformities (contractures) that affect mobility, and 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. Cardiac problems in people with MPS VI typically includes heart valve abnormalities. Respiratory abnormalities in this condition may involve the airway becoming narrow, which leads to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). Other features of MPS VI include an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). 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.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.

MalaCards based summary: Mucopolysaccharidosis, Type Vi, also known as mucopolysaccharidosis type vi, is related to multiple sulfatase deficiency and mucopolysaccharidoses, 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 Innate Immune System and Metabolism. The drugs Hormones and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and bone, and related phenotypes are failure to thrive and coarse facial features

UniProtKB/Swiss-Prot: 73 A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS6 is an autosomal recessive form 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.

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 24-Oct-2022)

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology: 11 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.

Wikipedia: 75 Sort by S. Arivazhagan... 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, Type X 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 173)
# Related Disease Score Top Affiliating Genes
1 multiple sulfatase deficiency 31.2 SUMF1 IDS GNS GALNS ARSH ARSB
2 mucopolysaccharidoses 30.7 IDUA IDS GUSB GALNS ARSB
3 osteochondrodysplasia 30.6 IDUA GUSB GLB1 GALNS
4 leukodystrophy 30.3 SUMF1 IDUA ARSH ARSB ARSA
5 umbilical hernia 30.3 IDUA GALNS ARSB
6 gingival hypertrophy 30.1 IDUA GLB1
7 glycoproteinosis 29.8 GLB1 ARSB
8 sandhoff disease 29.4 SGSH NAGLU IGF2R GLB1 GLA ARSA
9 mucopolysaccharidosis-plus syndrome 29.3 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
10 mannosidosis, alpha b, lysosomal 29.2 SGSH NAGLU LIPA IGF2R IDUA GUSB
11 hurler syndrome 29.2 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
12 mucolipidosis 29.1 NAGLU M6PR IGF2R IDUA GLB1 GALNS
13 lysosomal storage disease 28.9 SUMF1 SGSH NAGLU M6PR LIPA IGF2R
14 scheie syndrome 28.9 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
15 metachromatic leukodystrophy 28.9 SUMF1 SGSH NAGLU M6PR LIPA IGF2R
16 mucopolysaccharidosis iv 28.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
17 mucopolysaccharidosis, type vii 28.5 SGSH NAGLU M6PR IGF2R IDUA IDS
18 mucopolysaccharidosis, type ii 27.7 SUMF1 SGSH NAGLU M6PR LIPA IGF2R
19 mucopolysaccharidosis, type iva 27.6 SUMF1 SGSH NAGLU M6PR LIPA IGF2R
20 mucopolysaccharidosis type 6, slowly progressing 11.3
21 mucopolysaccharidosis type 6, rapidly progressing 11.3
22 dysostosis 10.4
23 lysosomal storage disease with skeletal involvement 10.4
24 abdominal obesity-metabolic syndrome 1 10.3
25 inherited metabolic disorder 10.3
26 endocardial fibroelastosis 10.3
27 sleep apnea 10.3
28 hydrocephalus 10.3
29 arthropathy 10.3
30 osteoarthritis 10.3
31 aortic valve disease 2 10.3
32 mitral valve stenosis 10.3
33 48,xxxy syndrome 10.3
34 48,xxyy syndrome 10.3
35 48,xyyy 10.3
36 polyposis syndrome, hereditary mixed, 2 10.3 GUSB ARSB
37 gaucher disease, type iiic 10.2 M6PR ARSA
38 mongolian spot 10.2 IDUA GLB1
39 charcot-marie-tooth disease, axonal, type 2v 10.2 NAGLU IGF2R
40 gm1-gangliosidosis, type ii 10.2 IDS GLB1 GALNS
41 apnea, obstructive sleep 10.1
42 carpal tunnel syndrome 10.1
43 mononeuropathy of the median nerve, mild 10.1
44 graft-versus-host disease 10.1
45 pulmonary hypertension 10.1
46 vascular disease 10.1
47 optic nerve disease 10.1
48 congestive heart failure 10.1
49 spinal stenosis 10.1
50 kluver-bucy syndrome 10.1 SGSH NAGLU HGSNAT

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



Diseases related to Mucopolysaccharidosis, Type Vi

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Vi

Human phenotypes related to Mucopolysaccharidosis, Type Vi:

58 30 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 coarse facial features 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000280
3 chronic otitis media 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000389
4 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
5 mucopolysacchariduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008155
6 thick lower lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000179
7 sinusitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000246
8 epiphyseal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002656
9 recurrent upper respiratory tract infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002788
10 disproportionate short-trunk short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003521
11 opacification of the corneal stroma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007759
12 thick nasal alae 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009928
13 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
14 kyphosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002808
15 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
16 hearing impairment 58 30 Very rare (1%) Frequent (79-30%)
HP:0000365
17 splenomegaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001744
18 broad ribs 58 30 Frequent (33%) Frequent (79-30%)
HP:0000885
19 genu valgum 58 30 Very rare (1%) Frequent (79-30%)
HP:0002857
20 ovoid vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003300
21 hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100790
22 macroglossia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000158
23 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
24 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
25 abnormal heart valve morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001654
26 macrocephaly 30 Very rare (1%) HP:0000256
27 sleep apnea 30 Very rare (1%) HP:0010535
28 hepatomegaly 30 Very rare (1%) HP:0002240
29 corneal opacity 30 Very rare (1%) HP:0007957
30 inguinal hernia 30 Very rare (1%) HP:0000023
31 hip dysplasia 30 Very rare (1%) HP:0001385
32 carious teeth 30 Very rare (1%) HP:0000670
33 pectus carinatum 30 Very rare (1%) HP:0000768
34 umbilical hernia 30 Very rare (1%) HP:0001537
35 short stature 30 Very rare (1%) HP:0004322
36 flexion contracture 30 Very rare (1%) HP:0001371
37 kyphoscoliosis 30 Very rare (1%) HP:0002751
38 mitral regurgitation 30 Very rare (1%) HP:0001653
39 arthralgia 30 Very rare (1%) HP:0002829
40 glaucoma 30 Very rare (1%) HP:0000501
41 delayed eruption of teeth 30 Very rare (1%) HP:0000684
42 split hand 30 Very rare (1%) HP:0001171
43 pulmonary arterial hypertension 30 Very rare (1%) HP:0002092
44 thickened skin 30 Very rare (1%) HP:0001072
45 lumbar hyperlordosis 30 Very rare (1%) HP:0002938
46 pneumonia 30 Very rare (1%) HP:0002090
47 mitral stenosis 30 Very rare (1%) HP:0001718
48 tricuspid regurgitation 30 Very rare (1%) HP:0005180
49 constrictive median neuropathy 30 Very rare (1%) HP:0012185
50 hirsutism 30 Very rare (1%) HP:0001007

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Head:
macrocephaly
dolichocephaly

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 24-Oct-2022)

UMLS symptoms related to Mucopolysaccharidosis, Type Vi:


joint stiffness

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

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.98 ARSA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.98 ARSA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.98 BLOC1S1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.98 ARSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.98 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.98 GALNS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.98 ARSA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.98 ARSB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.98 ARSB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.98 BLOC1S1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.98 IDS IGF2R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.98 IGF2R
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.98 BLOC1S1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.98 ARSA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.98 ARSA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.98 IDS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.98 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.98 ARSA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.98 ARSA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.98 GALNS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.98 IDS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.98 IGF2R
24 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.98 GALNS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.98 ARSB
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 ARSB
27 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.98 IDS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.98 BLOC1S1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.98 IDS
30 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.98 IGF2R
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.98 ARSA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.98 GALNS
33 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.98 GALNS
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.98 IDS BLOC1S1 GALNS
35 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.98 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Vi:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.39 ARSB C4A GALNS GLA GLB1 GUSB
2 homeostasis/metabolism MP:0005376 10.39 ARSA ARSB BLOC1S1 C4A GALNS GLA
3 nervous system MP:0003631 10.37 ARSA ARSB GLA GLB1 GNS HGSNAT
4 cellular MP:0005384 10.36 ARSA ARSB BLOC1S1 GALNS GLA GLB1
5 growth/size/body region MP:0005378 10.29 ARSB C4A GLA GLB1 GUSB HGSNAT
6 liver/biliary system MP:0005370 10.28 C4A GLA GLB1 HGSNAT IDS IDUA
7 behavior/neurological MP:0005386 10.24 ARSA ARSB GLA GLB1 GNS GUSB
8 cardiovascular system MP:0005385 10.14 ARSB C4A GLA HGSNAT IDUA IGF2R
9 limbs/digits/tail MP:0005371 10.13 ARSB GUSB HGSNAT IDS IDUA IGF2R
10 immune system MP:0005387 10.13 ARSA C4A GLA GLB1 GNS HGSNAT
11 craniofacial MP:0005382 10.06 ARSB GUSB IDS IDUA IGF2R NAGLU
12 skeleton MP:0005390 10.03 ARSB GALNS GLB1 GUSB HGSNAT IDS
13 hearing/vestibular/ear MP:0005377 9.97 ARSA ARSB GUSB IDS IDUA NAGLU
14 vision/eye MP:0005391 9.85 ARSA ARSB BLOC1S1 GALNS GLA IDS
15 hematopoietic system MP:0005397 9.83 ARSA ARSB C4A GLB1 GNS GUSB
16 mortality/aging MP:0010768 9.5 BLOC1S1 C4A GLA GLB1 GNS GUSB

Drugs & Therapeutics for Mucopolysaccharidosis, Type Vi

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2, Phase 3
2
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
3
Losartan Approved Phase 2 114798-26-4 3961
4
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
5
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
7
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
9
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
14
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
15
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1
16
Rituximab Approved Phase 2 174722-31-7
17
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
18
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
19
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
20
Tocopherol Approved, Investigational Phase 2 1406-66-2
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
23
Busulfan Approved, Investigational Phase 2 55-98-1 2478
24
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
25
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
26
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1077-27-6, 1200-22-2 864 445125 6112
27
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
28
Tocotrienol Investigational Phase 2 6829-55-6 9929901
29
Angiotensinogen Phase 2 16133225
30 Angiotensin Receptor Antagonists Phase 2
31 Angiotensin II Type 1 Receptor Blockers Phase 2
32 Giapreza Phase 2
33 Antihypertensive Agents Phase 2
34 Anti-Arrhythmia Agents Phase 2
35
Methylprednisolone Acetate Phase 2 584547
36 Thymoglobulin Phase 2
37 Dermatologic Agents Phase 2
38 Cyclosporins Phase 2
39 Antifungal Agents Phase 2
40 Calcineurin Inhibitors Phase 2
41 Antitubercular Agents Phase 2
42 Anti-Infective Agents Phase 2
43 Antibiotics, Antitubercular Phase 2
44 Anti-Bacterial Agents Phase 2
45 Pharmaceutical Solutions Phase 1, Phase 2
46 Anti-Inflammatory Agents Phase 1, Phase 2
47 Antilymphocyte Serum Phase 2
48 N-monoacetylcystine Phase 2
49 Vitamins Phase 2
50 Tocotrienols Phase 2

Interventional clinical trials:

(show all 28)
# 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 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Unknown status NCT03632213 Phase 2 Losartan;Placebo
6 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
7 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
8 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
9 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
10 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
11 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)
12 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II, and VI Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
13 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 Active, not recruiting NCT03173521 Phase 1, Phase 2
14 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
15 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
16 In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). Recruiting NCT04532047 Phase 1 Aldurazyme (laronidase)
17 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
18 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
19 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
20 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
21 A Re-Survey Study of Patients With MPS VI (Maroteaux-Lamy Syndrome) Who Previously Participated in ASB-00-02 Completed NCT01387854
22 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
23 MPS VI Clinical Surveillance Program (CSP) Completed NCT00214773
24 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
25 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
26 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Enrolling by invitation NCT05368038
27 Study of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy Syndrome Terminated NCT02156674 Naglazyme®
28 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 71 / NDF-RT 50 :


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.

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 6 28 ARSB

Anatomical Context for Mucopolysaccharidosis, Type Vi

Organs/tissues related to Mucopolysaccharidosis, Type Vi:

MalaCards : Eye, Spinal Cord, Bone, Heart, Tongue, Liver, Spleen
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Mucopolysaccharidosis, Type Vi

Articles related to Mucopolysaccharidosis, Type Vi:

(show top 50) (show all 721)
# Title Authors PMID Year
1
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. 53 62 57 5
17643332 2007
2
Maroteaux-lamy syndrome: five novel mutations and their structural localization. 53 62 57 5
10036316 1999
3
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. 53 62 57 5
8651289 1996
4
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. 53 62 57 5
1550123 1992
5
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype. 53 62 57 5
1301949 1992
6
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. 62 57 5
30118150 2018
7
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. 53 62 5
19968667 2010
8
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. 53 62 5
20143913 2010
9
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. 53 62 5
19259130 2009
10
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. 53 62 5
18486607 2008
11
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. 53 62 5
18406185 2008
12
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. 53 62 5
17672828 2008
13
Mutational analysis of 105 mucopolysaccharidosis type VI patients. 53 62 5
17458871 2007
14
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. 53 62 5
17161971 2007
15
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. 53 62 5
14974081 2004
16
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients. 53 62 5
15000815 2003
17
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. 53 62 5
11939792 2002
18
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation. 53 62 5
11802522 2001
19
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. 53 62 57
11668612 2001
20
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. 53 62 5
10923267 2000
21
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online. 53 62 5
10206678 1998
22
[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome]. 53 62 5
8752530 1996
23
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 53 62 5
8116615 1994
24
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. 53 62 57
1901688 1991
25
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy. 62 57
33775523 2021
26
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study. 62 57
33678523 2021
27
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis. 62 5
33163362 2020
28
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation. 62 5
32075597 2020
29
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. 62 5
30982216 2019
30
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia. 62 5
28914427 2018
31
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. 62 5
28884960 2017
32
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. 62 5
28552677 2017
33
Epidemiology of mucopolysaccharidoses. 62 57
28595941 2017
34
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. 62 5
27797586 2017
35
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 62 5
27826022 2017
36
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 62 5
26909334 2016
37
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings. 62 5
26910003 2016
38
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. 62 5
28649537 2015
39
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 62 5
26609033 2015
40
Mutations in ARSB in MPS VI patients in India. 62 5
26937411 2015
41
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI. 62 5
25797215 2015
42
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. 62 5
25654180 2015
43
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 62 5
24798265 2015
44
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 62 5
24875751 2014
45
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 62 5
24373060 2014
46
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. 62 5
24677745 2014
47
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 62 5
25190157 2014
48
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. 62 5
24221504 2014
49
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. 62 5
23458163 2014
50
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy. 62 5
24262793 2014

Variations for Mucopolysaccharidosis, Type Vi

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Vi:

5 (show top 50) (show all 590)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARSB NM_000046.3:c.384_386delCTC DEL Pathogenic
100718 GRCh37:
GRCh38:
2 ARSB NM_000046.5(ARSB):c.116_123del (p.Ala39fs) DEL Pathogenic
495377 rs1554032243 GRCh37: 5:78280949-78280956
GRCh38: 5:78985126-78985133
3 ARSB NM_000046.5(ARSB):c.257del (p.Tyr86fs) DEL Pathogenic
445286 rs1554032122 GRCh37: 5:78280815-78280815
GRCh38: 5:78984992-78984992
4 ARSB NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) SNV Pathogenic
Likely Pathogenic
445287 rs1554032099 GRCh37: 5:78280791-78280791
GRCh38: 5:78984968-78984968
5 ARSB NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) INSERT Pathogenic
445288 rs1554032196 GRCh37: 5:78280882-78280883
GRCh38: 5:78985059-78985060
6 ARSB NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) SNV Pathogenic
445289 rs1554032220 GRCh37: 5:78280920-78280920
GRCh38: 5:78985097-78985097
7 ARSB NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del DEL Pathogenic
559662 GRCh37:
GRCh38: 5:78885828-78964415
8 ARSB and overlap with 1 gene(s) NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del DEL Pathogenic
559663 GRCh37:
GRCh38: 5:78839427-78955294
9 ARSB NM_000046.5(ARSB):c.1036del (p.Glu346fs) DEL Pathogenic
559667 rs1554079302 GRCh37: 5:78181513-78181513
GRCh38: 5:78885690-78885690
10 ARSB NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter) SNV Pathogenic
559671 rs1554079296 GRCh37: 5:78181490-78181490
GRCh38: 5:78885667-78885667
11 ARSB NM_000046.5(ARSB):c.1142+1G>T SNV Pathogenic
559678 rs746396210 GRCh37: 5:78181406-78181406
GRCh38: 5:78885583-78885583
12 ARSB NM_000046.5(ARSB):c.1142+2T>C SNV Pathogenic
Likely Pathogenic
559680 rs781510986 GRCh37: 5:78181405-78181405
GRCh38: 5:78885582-78885582
13 ARSB NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter) SNV Pathogenic
559689 rs771296632 GRCh37: 5:78135184-78135184
GRCh38: 5:78839361-78839361
14 ARSB NM_000046.5(ARSB):c.1208del (p.Ser403fs) DEL Pathogenic
559690 rs1554074124 GRCh37: 5:78135184-78135184
GRCh38: 5:78839361-78839361
15 ARSB NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter) SNV Pathogenic
559694 rs1554069793 GRCh37: 5:78077750-78077750
GRCh38: 5:78781927-78781927
16 ARSB NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) SNV Pathogenic
559709 rs200188234 GRCh37: 5:78076456-78076456
GRCh38: 5:78780633-78780633
17 ARSB NM_000046.5(ARSB):c.208_215del (p.Pro70fs) DEL Pathogenic
559738 rs1554032155 GRCh37: 5:78280857-78280864
GRCh38: 5:78985034-78985041
18 ARSB NM_000046.5(ARSB):c.238del (p.Val80fs) DEL Pathogenic
881 rs431905493 GRCh37: 5:78280834-78280834
GRCh38: 5:78985011-78985011
19 ARSB NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) SNV Pathogenic
559752 rs1299207831 GRCh37: 5:78280810-78280810
GRCh38: 5:78984987-78984987
20 ARSB NM_000046.5(ARSB):c.270_274del (p.Cys91fs) DEL Pathogenic
559755 rs1554032110 GRCh37: 5:78280798-78280802
GRCh38: 5:78984975-78984979
21 ARSB NM_000046.5(ARSB):c.307_312+147del DEL Pathogenic
559767 rs1554089838 GRCh37: 5:78280613-78280765
GRCh38: 5:78984790-78984942
22 ARSB NM_000046.5(ARSB):c.498del (p.Phe166fs) DEL Pathogenic
559791 rs1554088002 GRCh37: 5:78264830-78264830
GRCh38: 5:78969007-78969007
23 ARSB NM_000046.5(ARSB):c.743del (p.Pro248fs) DEL Pathogenic
882 rs431905494 GRCh37: 5:78251273-78251273
GRCh38: 5:78955450-78955450
24 ARSB NC_000005.10:g.(?_78964406)_(78969202_?)del DEL Pathogenic
831749 GRCh37: 5:78260229-78265025
GRCh38:
25 ARSB NM_000046.5(ARSB):c.899-1337_1142+1055del DEL Pathogenic
559818 GRCh37: 5:78180352-78182987
GRCh38: 5:78884529-78887164
26 ARSB GRCh37/hg19 5q14.1(chr5:78111022-78111871) CN LOSS Pathogenic
915978 GRCh37: 5:78111022-78111871
GRCh38:
27 ARSB NM_000046.5(ARSB):c.264G>T (p.Gln88His) SNV Pathogenic
Uncertain Significance
974862 rs750947605 GRCh37: 5:78280808-78280808
GRCh38: 5:78984985-78984985
28 ARSB NC_000005.9:g.(?_78260219)_(78265035_?)del DEL Pathogenic
1073285 GRCh37: 5:78260219-78265035
GRCh38:
29 overlap with 4 genes NC_000005.9:g.(?_77385207)_(78135259_?)del DEL Pathogenic
1073286 GRCh37: 5:77385207-78135259
GRCh38:
30 ARSB NM_000046.5(ARSB):c.121dup (p.Ala41fs) DUP Pathogenic
1074870 GRCh37: 5:78280950-78280951
GRCh38: 5:78985127-78985128
31 ARSB NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) MICROSAT Pathogenic
1323467 GRCh37: 5:78280814-78280816
GRCh38: 5:78984991-78984993
32 ARSB NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) DUP Pathogenic
453065 rs766772376 GRCh37: 5:78280932-78280933
GRCh38: 5:78985109-78985110
33 ARSB NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer) INSERT Pathogenic
1400506 GRCh37: 5:78251149-78251150
GRCh38: 5:78955326-78955327
34 ARSB NM_000046.5(ARSB):c.1142+1G>A SNV Pathogenic
1384664 GRCh37: 5:78181406-78181406
GRCh38: 5:78885583-78885583
35 ARSB NC_000005.9:g.(?_78076210)_(78181660_?)del DEL Pathogenic
1427846 GRCh37: 5:78076210-78181660
GRCh38:
36 ARSB NM_000046.5(ARSB):c.1336+2T>C SNV Pathogenic
1454563 GRCh37: 5:78077673-78077673
GRCh38: 5:78781850-78781850
37 ARSB NC_000005.9:g.(?_78251108)_(78281081_?)del DEL Pathogenic
1460302 GRCh37: 5:78251108-78281081
GRCh38:
38 ARSB NM_000046.5(ARSB):c.64dup (p.Val22fs) DUP Pathogenic
1445202 GRCh37: 5:78281007-78281008
GRCh38: 5:78985184-78985185
39 ARSB NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) SNV Pathogenic
862387 rs1747989303 GRCh37: 5:78181513-78181513
GRCh38: 5:78885690-78885690
40 ARSB NM_000046.5(ARSB):c.385del (p.Leu129fs) DEL Pathogenic
957464 rs1752338387 GRCh37: 5:78264943-78264943
GRCh38: 5:78969120-78969120
41 ARSB NM_000046.5(ARSB):c.170G>A (p.Trp57Ter) SNV Pathogenic
1071218 GRCh37: 5:78280902-78280902
GRCh38: 5:78985079-78985079
42 ARSB NC_000005.9:g.(?_78111899)_(78135259_?)del DEL Pathogenic
1073284 GRCh37: 5:78111899-78135259
GRCh38:
43 ARSB NM_000046.5(ARSB):c.468del (p.Pro157fs) DEL Pathogenic
1074059 GRCh37: 5:78264860-78264860
GRCh38: 5:78969037-78969037
44 ARSB NM_000046.5(ARSB):c.103_118del (p.Pro35fs) DEL Pathogenic
1074983 GRCh37: 5:78280954-78280969
GRCh38: 5:78985131-78985146
45 ARSB NM_000046.5(ARSB):c.1143-1G>C SNV Pathogenic
887 rs431905495 GRCh37: 5:78135250-78135250
GRCh38: 5:78839427-78839427
46 ARSB NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) SNV Pathogenic
445291 rs1255777033 GRCh37: 5:78264850-78264850
GRCh38: 5:78969027-78969027
47 ARSB NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) SNV Pathogenic
496789 rs991104525 GRCh37: 5:78264874-78264874
GRCh38: 5:78969051-78969051
48 ARSB NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) SNV Pathogenic
488679 rs371886102 GRCh37: 5:78260358-78260358
GRCh38: 5:78964535-78964535
49 ARSB NC_000005.10:g.(?_78885574)_(78885837_?)del DEL Pathogenic
832751 GRCh37: 5:78181397-78181660
GRCh38:
50 ARSB NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) SNV Pathogenic
952974 rs1753093650 GRCh37: 5:78280762-78280762
GRCh38: 5:78984939-78984939

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

73 (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 rs1196325597
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 rs1233331806
14 ARSB p.Pro116His VAR_019019 rs775780931
15 ARSB p.Met142Ile VAR_019020 rs1554088053
16 ARSB p.Gly144Arg VAR_019021 rs746206847
17 ARSB p.Trp146Leu VAR_019022 rs1554088034
18 ARSB p.Trp146Arg VAR_019023 rs1554088037
19 ARSB p.Trp146Ser VAR_019024 rs1554088034
20 ARSB p.Cys192Arg VAR_019025 rs1554087423
21 ARSB p.Gln239Arg VAR_019026 rs1554086431
22 ARSB p.Trp312Cys VAR_019027 rs759384989
23 ARSB p.Arg315Gln VAR_019028 rs727503809
24 ARSB p.Leu321Pro VAR_019029 rs1554079320
25 ARSB p.Phe399Leu VAR_019031 rs200793396
26 ARSB p.Arg484Gly VAR_019032 rs201101343
27 ARSB p.Cys521Tyr VAR_019033 rs1554069661
28 ARSB p.Pro531Arg VAR_019034 rs1554069659
29 ARSB p.Leu82Arg VAR_080270 rs749465732

Expression for Mucopolysaccharidosis, Type Vi

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

Pathways for Mucopolysaccharidosis, Type Vi



Pathways directly related to Mucopolysaccharidosis, Type Vi:

# Pathway Source
1 MPS VI - Maroteaux-Lamy syndrome Reactome 66

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 IGF2R HGSNAT GUSB GNS GLB1 GLA
2
Show member pathways
13.62 ARSA ARSB ARSH GALNS GLA GLB1
3
Show member pathways
13.56 ARSB GALNS GLB1 GNS GUSB HGSNAT
4
Show member pathways
12.72 SGSH NAGLU IDUA IDS HGSNAT GUSB
5
Show member pathways
12.5 ARSB GALNS GLB1 GNS GUSB HGSNAT
6
Show member pathways
12.12 SUMF1 GLB1 GLA ARSH ARSB ARSA
7
Show member pathways
11.97 M6PR IGF2R GNS BLOC1S1
8
Show member pathways
11.74 SUMF1 ARSH ARSB ARSA
9
Show member pathways
11.68 GNS GLB1 GALNS
10
Show member pathways
11.26 SGSH NAGLU IDUA IDS HGSNAT GUSB
11
Show member pathways
11.05 SGSH NAGLU IDUA IDS HGSNAT GUSB
12 10.56 LIPA GLB1

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 extracellular exosome GO:0070062 10.34 ARSA ARSB C4A GALNS GLA GLB1
2 endoplasmic reticulum lumen GO:0005788 10.07 SUMF1 C4A ARSH ARSB ARSA
3 azurophil granule lumen GO:0035578 10 ARSA ARSB GALNS GLA GLB1 GNS
4 lysosome GO:0005764 10 ARSA ARSB BLOC1S1 GALNS GLA GLB1
5 ficolin-1-rich granule lumen GO:1904813 9.92 GUSB GNS GLB1 ARSB
6 lysosomal lumen GO:0043202 9.74 ARSA ARSB GALNS GLA GLB1 GNS

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.88 IDUA GUSB GLB1 GLA
2 lysosomal transport GO:0007041 9.76 ARSB HGSNAT IGF2R M6PR
3 chondroitin sulfate catabolic process GO:0030207 9.71 IDUA GUSB
4 dermatan sulfate catabolic process GO:0030209 9.67 IDUA IDS
5 metabolic process GO:0008152 9.65 NAGLU IDUA GUSB GLB1 GLA
6 heparan sulfate proteoglycan catabolic process GO:0030200 9.65 SGSH NAGLU IDS HGSNAT GUSB
7 response to pH GO:0009268 9.63 ARSB ARSA
8 keratan sulfate catabolic process GO:0042340 9.62 GNS GLB1
9 response to methylmercury GO:0051597 9.61 ARSB ARSA
10 glycosaminoglycan catabolic process GO:0006027 9.47 SGSH NAGLU IDUA IDS GUSB GNS

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 9.8 SGSH NAGLU LIPA IDUA IDS GUSB
2 galactoside binding GO:0016936 9.76 GLB1 GLA
3 arylsulfatase activity GO:0004065 9.76 ARSA ARSB ARSH GALNS
4 retromer complex binding GO:1905394 9.73 M6PR IGF2R
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.72 IDUA GUSB GLB1 GLA
6 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.67 GALNS ARSB
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.65 NAGLU IDUA GUSB GLB1 GLA
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.58 SGSH GNS
9 sulfuric ester hydrolase activity GO:0008484 9.36 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis, Type Vi

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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