MPS6
MCID: MCP005
MIFTS: 71

Mucopolysaccharidosis Vi (MPS6) malady

Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Mucopolysaccharidosis Vi

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Mucopolysaccharidosis Vi, also known as mucopolysaccharidosis type vi, is related to mucopolysaccharidosis and leukodystrophy, and has symptoms including storage liver disease, splenomegaly and visual loss/blindness/amblyopia. An important gene associated with Mucopolysaccharidosis Vi is ARSB (arylsulfatase B), and among its related pathways are Glycosaminoglycan degradation and Lysosome. The compounds formylglycine and mucopolysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow.

Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme n-acetylgalactosamine 4-sulfatase.

Wikipedia:63 Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic... more...

Description from OMIM:46 253200

Aliases & Classifications for Mucopolysaccharidosis Vi

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
mucopolysaccharidosis type vi:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


Aliases & Descriptions:

mucopolysaccharidosis vi 8 21 10 30 60
mucopolysaccharidosis type vi 9 42 20 22 21 46 48
arylsulfatase b deficiency 8 42 21 48
maroteaux-lamy syndrome 8 21 44
arsb deficiency 42 48
mps vi 42 21
mps6 21 48
deficiency of n-acetylgalactosamine-4-sulfatase 8
n-acetylgalactosamine 4-sulfatase deficiency 48
mps vi - maroteaux-lamy syndrome 8
mucopolysaccharidosis type 6 48
maroteaux - lamy syndrome 8
mucopolysaccharidosis 6 21
maroteaux lamy syndrome 42
polydystrophic dwarfism 21
maroteaux-lamy disease 48
arylsulfatase b 9
asb deficiency 48
mpsvi 48
mps 6 42


External Ids:

Disease Ontology8 DOID:12800
OMIM46 253200
NCIt39 C61264
MeSH34 D009087
SNOMED-CT56 190936000, 69463008
MESH via Orphanet35 D009087
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet57 52677002, 69463008
UMLS via Orphanet61 C0026709

Related Diseases for Mucopolysaccharidosis Vi

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mucopolysaccharidosis Vi:



Diseases related to mucopolysaccharidosis vi

Clinical Features for Mucopolysaccharidosis Vi

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46OMIM, 48Orphanet
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Clinical features from OMIM:

253200

Clinical synopsis from OMIM:

253200

Symptoms:

48 (show all 27)
  • storage liver disease
  • splenomegaly
  • visual loss/blindness/amblyopia
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • genu valgum
  • herniae
  • abnormal vertebral size/shape
  • corneal clouding/opacity/vascularisation
  • flared/thick ala nasi
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • thick lips
  • chronic/relapsing otitis
  • metaphyseal anomaly
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hearing loss/hypoacusia/deafness
  • short neck
  • anomalies of the ribs
  • kyphosis
  • coarse face

Drugs & Therapeutics for Mucopolysaccharidosis Vi

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mucopolysaccharidosis Vi

Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Vi

Search NIH Clinical Center for Mucopolysaccharidosis Vi

Search CenterWatch for Mucopolysaccharidosis Vi

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Mucopolysaccharidosis Vi cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Vi:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Hemacord
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Vi:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Mucopolysaccharidosis Vi

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Mucopolysaccharidosis Vi:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi20 22 ARSB

Anatomical Context for Mucopolysaccharidosis Vi

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32MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis Vi:

32
Bone, Liver, Bone marrow, Tongue, Eye, Spinal cord, Testes, Brain, Heart, Skin

Animal Models for Mucopolysaccharidosis Vi or affiliated genes

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Publications for Mucopolysaccharidosis Vi

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50PubMed
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Articles related to Mucopolysaccharidosis Vi:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI. (23179553)
2013
2
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. (23194248)
2013
3
Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery. (23408180)
2013
4
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. (23826140)
2013
5
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. (22278137)
2013
6
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. (22684871)
2012
7
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. (22441840)
2012
8
Corneal hysteresis in mucopolysaccharidosis I and VI. (21232085)
2012
9
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation. (22495825)
2012
10
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. (21930407)
2011
11
Corneal hysteresis and intraocular pressure in mucopolysaccharidosis I and VI. (21955585)
2011
12
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. (19968667)
2010
13
Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report. (19960448)
2010
14
Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series. (21791832)
2010
15
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. (21637564)
2010
16
Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen. (19896877)
2010
17
Mucopolysaccharidosis VI. (20385007)
2010
18
Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? (19159944)
2009
19
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. (18486607)
2008
20
Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI. (18509743)
2008
21
Entering a new treatment age for mucopolysaccharidosis VI disease: a search for better markers of disease progression and response to treatment. (18372931)
2008
22
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI. (18248830)
2008
23
Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation. (17637432)
2007
24
Mutational analysis of 105 mucopolysaccharidosis type VI patients. (17458871)
2007
25
Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI. (17544310)
2007
26
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. (16632276)
2006
27
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. (16435196)
2005
28
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (15126989)
2004
29
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. (15324318)
2004
30
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells. (10098600)
1999
31
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. (10328965)
1999
32
Urine glycosaminoglycan concentrations in mucopolysaccharidosis VI-affected cats following bone marrow transplantation or leukocyte infusion. (9247723)
1997
33
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. (9045867)
1997
34
Clinical vignette. Mucopolysaccharidosis VI in a miniature pinscher. (8558492)
1995
35
Growth plate pathology in feline mucopolysaccharidosis VI. (8574934)
1995
36
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation. (8575749)
1995
37
The locus responsible for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is located on rat chromosome 2. (8020950)
1994
38
Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (8125475)
1994
39
Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI. (1583873)
1992
40
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. (1550123)
1992
41
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants. (1792906)
1991
42
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. (1901688)
1991
43
Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI). (2503918)
1989
44
Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI. (2857690)
1985
45
Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. (6405371)
1983
46
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity. (6798861)
1981
47
Characterization of dermatan sulfate in mucopolysaccharidosis VI. Evidence for the absence of hyaluronidase-like enzymes in human skin fibroblasts. (6770909)
1980
48
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI. (6172)
1976
49
Empty sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux-Lamy). (807539)
1975
50
Proceedings: The defect in Maroteaux-Lamy disease (mucopolysaccharidosis VI, subtype A): deficiency of N-acetylgalactosamine-4-sulfatase. (4218834)
1974

Genetic Variations for Mucopolysaccharidosis Vi

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mucopolysaccharidosis Vi:

62 (show all 29)
id Symbol AA change Variation ID SNP ID
1ARSBp.Thr92MetVAR_007294
2ARSBp.Arg95GlnVAR_007295
3ARSBp.Cys117ArgVAR_007296
4ARSBp.Gly137ValVAR_007297
5ARSBp.Arg152TrpVAR_007298
6ARSBp.Arg160GlnVAR_007299
7ARSBp.Tyr210CysVAR_007300
8ARSBp.Leu236ProVAR_007301
9ARSBp.Gly302ArgVAR_007302
10ARSBp.His393ProVAR_007304
11ARSBp.Cys405TyrVAR_007305
12ARSBp.Leu498ProVAR_007306
13ARSBp.Ser65PheVAR_019017
14ARSBp.Pro116HisVAR_019019
15ARSBp.Met142IleVAR_019020
16ARSBp.Gly144ArgVAR_019021
17ARSBp.Trp146LeuVAR_019022
18ARSBp.Trp146ArgVAR_019023
19ARSBp.Trp146SerVAR_019024
20ARSBp.Cys192ArgVAR_019025
21ARSBp.Gln239ArgVAR_019026
22ARSBp.Trp312CysVAR_019027
23ARSBp.Arg315GlnVAR_019028
24ARSBp.Leu321ProVAR_019029
25ARSBp.Ser384AsnVAR_019030rs25414
26ARSBp.Phe399LeuVAR_019031
27ARSBp.Arg484GlyVAR_019032rs201101343
28ARSBp.Cys521TyrVAR_019033
29ARSBp.Pro531ArgVAR_019034

Expression for genes affiliated with Mucopolysaccharidosis Vi

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidosis Vi

Search GEO for disease gene expression data for Mucopolysaccharidosis Vi.

Pathways for genes affiliated with Mucopolysaccharidosis Vi

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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Mucopolysaccharidosis Vi

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
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Compounds related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1formylglycine4410.0ARSB, ARSH
2mucopolysaccharide4410.0ARSH, ARSB
3cerebroside449.9ARSB, ARSH
4n-acetylgalactosamine 6-sulfate449.8ARSH, GALNS
5glucuronic acid449.7ARSH, GALNS
6vanadate449.7ALAS2, ARSH
7chondroitin44 2410.7ARSB, GALNS
8dermatan sulfate449.6GALNS, ARSB
9glucosamine44 11 2411.5ARSH, GALNS
10chondroitin sulfate44 2410.5ARSB, ARSH, GALNS
11glycosaminoglycan449.4GALNS, ARSH, ARSB
12estrone sulfate44 2410.3ARSH, ARSD, ARSE
13estrone44 28 11 2412.0ARSH, ARSD, ARSE, ARSB
14sulfate44 249.4ARSB, ARSE, ARSD, ARSH, GALNS
15calcium44 49 11 2410.9GALNS, ARSH, ARSD, ARSE, ARSB

GO Terms for genes affiliated with Mucopolysaccharidosis Vi

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16Gene Ontology
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Cellular components related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.6ARSB, GALNS
2endoplasmic reticulum lumenGO:0057888.4ARSB, ARSE, ARSD, ARSH

Biological processes related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:0302039.6ARSB, GALNS
2glycosphingolipid metabolic processGO:0066878.8ARSB, ARSE, ARSD, ARSH
3sphingolipid metabolic processGO:0066658.7ARSH, ARSD, ARSE, ARSB
4post-translational protein modificationGO:0436878.6ARSB, ARSE, ARSD, ARSH
5cellular protein metabolic processGO:0442678.2EXOC1, ARSH, ARSD, ARSE, ARSB
6small molecule metabolic processGO:0442817.4GALNS, ARSH, ARSD, ARSE, ARSB, ALAS2

Molecular functions related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-acetylgalactosamine-4-sulfatase activityGO:0039439.3GALNS, ARSB
2arylsulfatase activityGO:0040658.6ARSB, ARSE, ARSD, ARSH
3metal ion bindingGO:0468728.2ARSB, ARSE, ARSD, ARSH, GALNS

Products for genes affiliated with Mucopolysaccharidosis Vi

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Vi

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet