MPS6
MCID: MCP005
MIFTS: 57

Mucopolysaccharidosis Vi (MPS6) malady

Eye, Bone, Metabolic, Fetal categories

Summaries for Mucopolysaccharidosis Vi

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 metachromatic leukodystrophy and mucosulfatidosis, and has symptoms including coarse face, corneal clouding/opacity/vascularisation and flared/thick ala nasi. 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 brain, liver and skin.

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

Wikipedia:64 Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic... more...

Description from OMIM:47 253200

Aliases & Classifications for Mucopolysaccharidosis Vi

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 31 61
mucopolysaccharidosis type vi 9 43 20 22 21 47 49
arylsulfatase b deficiency 8 43 21 49
maroteaux-lamy syndrome 8 21 45
arsb deficiency 43 49
mps vi 43 21
mps6 21 49
deficiency of n-acetylgalactosamine-4-sulfatase 8
n-acetylgalactosamine 4-sulfatase deficiency 49
mps vi - maroteaux-lamy syndrome 8
mucopolysaccharidosis type 6 49
maroteaux - lamy syndrome 8
mucopolysaccharidosis 6 21
maroteaux lamy syndrome 43
polydystrophic dwarfism 21
maroteaux-lamy disease 49
arylsulfatase b 9
asb deficiency 49
mpsvi 49
mps 6 43


External Ids:

Disease Ontology8 DOID:12800
OMIM47 253200
NCIt40 C61264
MeSH35 D009087
SNOMED-CT57 190936000, 69463008
MESH via Orphanet36 D009087
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet58 52677002, 69463008
UMLS via Orphanet62 C0026709

Related Diseases for Mucopolysaccharidosis Vi

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to mucopolysaccharidosis vi

Clinical Features for Mucopolysaccharidosis Vi

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

253200

Clinical synopsis from OMIM:

253200

Symptoms:

49 (show all 27)
  • coarse face
  • 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
  • abnormal vertebral size/shape
  • herniae
  • genu valgum
  • 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

Drugs & Therapeutics for Mucopolysaccharidosis Vi

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Mucopolysaccharidosis Vi:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi20 22 ARSB

Anatomical Context for Mucopolysaccharidosis Vi

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mucopolysaccharidosis Vi:

33
Brain, Liver, Skin, B cells

Animal Models for Mucopolysaccharidosis Vi or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Mucopolysaccharidosis Vi

Sources:
51PubMed
See all sources

Articles related to Mucopolysaccharidosis Vi:

(show all 21)
idTitleAuthorsYear
1
In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients. (24359664)
2013
2
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice. (22472038)
2012
3
Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential. (22548043)
2012
4
Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy. (22303797)
2011
5
Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery. (20603889)
2010
6
Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. (20808938)
2010
7
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). (20886296)
2010
8
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts. (18546276)
2008
9
Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). (18546328)
2008
10
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model. (16435197)
2005
11
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA. (14741188)
2004
12
Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. (11829521)
2002
13
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. (12439853)
2002
14
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. (11735025)
2001
15
Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII. (11273777)
2001
16
In vivo treatment of hemophilia A and mucopolysaccharidosis type VII using nonprimate lentiviral vectors. (11407898)
2001
17
Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice. (10022533)
1999
18
Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the alpha-L-iduronidase gene. (10498248)
1999
19
Clinical vignette. Mucopolysaccharidosis VI in a miniature pinscher. (8558492)
1995
20
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. (1284597)
1992
21
Transcultural understanding of a hereditary disorder. Mucopolysaccharidosis VI in a Vietnamese family. (2507210)
1989

Genetic Variations for Mucopolysaccharidosis Vi

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mucopolysaccharidosis Vi:

63 (show all 29)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

Compounds for genes affiliated with Mucopolysaccharidosis Vi

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1formylglycine4510.0ARSB, ARSH
2mucopolysaccharide4510.0ARSH, ARSB
3cerebroside459.9ARSB, ARSH
4n-acetylgalactosamine 6-sulfate459.8ARSH, GALNS
5glucuronic acid459.7ARSH, GALNS
6vanadate459.7ALAS2, ARSH
7chondroitin45 2410.7ARSB, GALNS
8dermatan sulfate459.6GALNS, ARSB
9glucosamine45 11 2411.5ARSH, GALNS
10chondroitin sulfate45 2410.5ARSB, ARSH, GALNS
11glycosaminoglycan459.4GALNS, ARSH, ARSB
12estrone sulfate45 2410.3ARSH, ARSD, ARSE
13estrone45 29 11 2412.0ARSH, ARSD, ARSE, ARSB
14sulfate45 249.4ARSB, ARSE, ARSD, ARSH, GALNS
15calcium45 50 11 2410.9GALNS, ARSH, ARSD, ARSE, ARSB

GO Terms for genes affiliated with Mucopolysaccharidosis Vi

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Vi

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet