MCID: MCP024
MIFTS: 60

Mucopolysaccharidosis Type Vi malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Skin diseases categories

Aliases & Classifications for Mucopolysaccharidosis Type Vi

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 30LifeMap Discovery®, 9Disease Ontology, 11DISEASES, 60UMLS, 43Novoseek, 47Orphanet, 20GeneTests, 22GTR, 38NCIt, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Mucopolysaccharidosis Type Vi, Aliases & Descriptions:

Name: Mucopolysaccharidosis Type Vi 45 10 41 21 30
Mucopolysaccharidosis Vi 30 9 21 11 60
Arylsulfatase B Deficiency 9 41 21 47
Mucopolysaccharidosis Type 6 41 20 47
Maroteaux-Lamy Syndrome 9 21 43
Mps6 41 21 47
N-Acetylgalactosamine 4-Sulfatase Deficiency 41 47
Mucopolysaccharidosis 6 21 22
Maroteaux-Lamy Disease 41 47
Arsb Deficiency 41 47
Asb Deficiency 41 47
 
Mps Vi 41 21
Mpsvi 41 47
Deficiency of N-Acetylgalactosamine-4-Sulfatase 9
N-Acetylgalactosamine-4-Sulfatase Deficiency 41
Mps Vi - Maroteaux-Lamy Syndrome 9
Mucopoly-Saccharidosis Type Vi 41
Maroteaux - Lamy Syndrome 9
Maroteaux Lamy Syndrome 41
Polydystrophic Dwarfism 21
Arylsulfatase B 10
Mps 6 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
arylsulfatase b deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult


External Ids:

OMIM45 253200
Disease Ontology9 DOID:12800
NCIt38 C61264
MeSH33 D009087
SNOMED-CT55 190936000, 69463008
Orphanet47 583
MESH via Orphanet34 D009087
ICD10 via Orphanet26 E76.2
UMLS via Orphanet61 C0026709

Summaries for Mucopolysaccharidosis Type Vi

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OMIM:45 Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of... (253200) more...

MalaCards based summary: Mucopolysaccharidosis Type Vi, also known as mucopolysaccharidosis vi, is related to mucopolysaccharidosis and leukodystrophy, and has symptoms including thick lower lip vermilion, sinusitis and coarse facial features. An important gene associated with Mucopolysaccharidosis Type Vi is ARSB (arylsulfatase B), and among its related pathways are Lysosome and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. The compounds n-acetylglucosamine and p-nitrocatechol sulfate have been mentioned in the context of this disorder. Affiliated tissues include tongue, bone and heart, and related mouse phenotype hearing/vestibular/ear.

Disease Ontology:9 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme n-acetylgalactosamine 4-sulfatase.

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.

Related Diseases for Mucopolysaccharidosis Type Vi

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



Diseases related to mucopolysaccharidosis type vi

Symptoms for Mucopolysaccharidosis Type Vi

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Symptoms by clinical synopsis from OMIM:

253200

Clinical features from OMIM:

253200

Symptoms:

 47 (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

HPO human phenotypes related to Mucopolysaccharidosis Type Vi:

(show all 62)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion hallmark (90%) HP:0000179
2 sinusitis hallmark (90%) HP:0000246
3 coarse facial features hallmark (90%) HP:0000280
4 otitis media hallmark (90%) HP:0000388
5 abnormality of the nasal alae hallmark (90%) HP:0000429
6 abnormality of the metaphyses hallmark (90%) HP:0000944
7 limitation of joint mobility hallmark (90%) HP:0001376
8 short stature hallmark (90%) HP:0004322
9 abnormality of the epiphyses hallmark (90%) HP:0005930
10 opacification of the corneal stroma hallmark (90%) HP:0007759
11 mucopolysacchariduria hallmark (90%) HP:0008155
12 hearing impairment typical (50%) HP:0000365
13 short neck typical (50%) HP:0000470
14 abnormality of the ribs typical (50%) HP:0000772
15 splenomegaly typical (50%) HP:0001744
16 kyphosis typical (50%) HP:0002808
17 genu valgum typical (50%) HP:0002857
18 abnormal form of the vertebral bodies typical (50%) HP:0003312
19 hernia typical (50%) HP:0100790
20 abnormality of the tongue occasional (7.5%) HP:0000157
21 visual impairment occasional (7.5%) HP:0000505
22 abnormality of the heart valves occasional (7.5%) HP:0001654
23 cognitive impairment occasional (7.5%) HP:0100543
24 autosomal recessive inheritance HP:0000007
25 inguinal hernia HP:0000023
26 macroglossia HP:0000158
27 hydrocephalus HP:0000238
28 macrocephaly HP:0000256
29 dolichocephaly HP:0000268
30 coarse facial features HP:0000280
31 hearing impairment HP:0000365
32 glaucoma HP:0000501
33 prominent sternum HP:0000884
34 broad ribs HP:0000885
35 dysostosis multiplex HP:0000943
36 hirsutism HP:0001007
37 split hand HP:0001171
38 hip dysplasia HP:0001385
39 joint stiffness HP:0001387
40 umbilical hernia HP:0001537
41 cardiomyopathy HP:0001638
42 abnormality of the heart valves HP:0001654
43 splenomegaly HP:0001744
44 hepatomegaly HP:0002240
45 cervical myelopathy HP:0002318
46 epiphyseal dysplasia HP:0002656
47 recurrent upper respiratory tract infections HP:0002788
48 genu valgum HP:0002857
49 hypoplastic iliac wings HP:0002866
50 flared iliac wings HP:0002869
51 lumbar hyperlordosis HP:0002938
52 metaphyseal widening HP:0003016
53 metaphyseal irregularity HP:0003025
54 hypoplastic acetabulae HP:0003274
55 ovoid vertebral bodies HP:0003300
56 hypoplasia of the odontoid process HP:0003311
57 disproportionate short-trunk short stature HP:0003521
58 depressed nasal bridge HP:0005280
59 opacification of the corneal stroma HP:0007759
60 dermatan sulfate excretion in urine HP:0008301
61 anterior wedging of l1 HP:0008432
62 anterior wedging of l2 HP:0011941

Drugs & Therapeutics for Mucopolysaccharidosis Type Vi

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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Type Vi

Search NIH Clinical Center for Mucopolysaccharidosis Type Vi

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
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Type Vi:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Mucopolysaccharidosis Type Vi

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Genetic tests related to Mucopolysaccharidosis Type Vi:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi20 22 ARSB

Anatomical Context for Mucopolysaccharidosis Type Vi

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Vi:

31
Tongue, Bone, Heart, Eye, Liver, Bone marrow, Testes

Animal Models for Mucopolysaccharidosis Type Vi or affiliated genes

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MGI Mouse Phenotypes related to Mucopolysaccharidosis Type Vi:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3ARSA, ARSB

Publications for Mucopolysaccharidosis Type Vi

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Articles related to Mucopolysaccharidosis Type Vi:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI. (25797215)
2015
2
Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. (25750448)
2015
3
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. (23458163)
2013
4
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. (22704873)
2013
5
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. (23194248)
2013
6
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. (23557332)
2013
7
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. (24373060)
2013
8
New insights in mucopolysaccharidosis type VI: Neurological perspective. (23972383)
2013
9
Up to five years experience with 11 mucopolysaccharidosis type VI patients. (23523338)
2013
10
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). (23949968)
2013
11
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). (23192728)
2013
12
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. (23826140)
2013
13
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. (23633437)
2013
14
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. (23023219)
2012
15
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. (22336888)
2012
16
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). (21737154)
2012
17
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. (22684871)
2012
18
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. (22299127)
2012
19
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. (22133300)
2012
20
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. (21514195)
2011
21
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. (21996138)
2011
22
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. (21638759)
2011
23
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. (21930407)
2011
24
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. (21917494)
2011
25
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation. (20800524)
2010
26
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. (20143913)
2010
27
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]). (18250117)
2008
28
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. (18486607)
2008
29
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. (17672828)
2008
30
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. (18338089)
2008
31
Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation. (17637432)
2007
32
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. (17161971)
2007
33
Mutational analysis of 105 mucopolysaccharidosis type VI patients. (17458871)
2007
34
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. (16435196)
2005
35
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. (14974081)
2004
36
Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy. (12649061)
2003
37
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. (11939792)
2002
38
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. (11668612)
2001
39
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells. (10098600)
1999
40
Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI. (10593925)
1999
41
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings. (9175798)
1997
42
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. (9045867)
1997
43
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. (8541342)
1995
44
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
45
Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer. (1904721)
1991
46
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. (1901688)
1991
47
Endocardial fibroelastosis in mucopolysaccharidosis type VI. (3109796)
1987
48
Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. (6405371)
1983
49
Empty sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux-Lamy). (807539)
1975
50
Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). (4246483)
1970

Variations for Mucopolysaccharidosis Type Vi

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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Type 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

Clinvar genetic disease variations for Mucopolysaccharidosis Type Vi:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ARSBNM_000046.3: c.384_386delCTCdeletionPathogenic
2ARSBNM_000046.3(ARSB): c.284G> A (p.Arg95Gln)single nucleotide variantPathogenicrs118203942GRCh37Chr 5, 78280788: 78280788
3ARSBNM_000046.3(ARSB): c.629A> G (p.Tyr210Cys)single nucleotide variantPathogenicrs118203943GRCh37Chr 5, 78260300: 78260300
4ARSBNM_000046.3(ARSB): c.1178A> C (p.His393Pro)single nucleotide variantPathogenicrs118203944GRCh37Chr 5, 78135214: 78135214
5ARSBNM_000046.3(ARSB): c.1143-1G> Csingle nucleotide variantPathogenicrs431905495GRCh37Chr 5, 78135250: 78135250
6ARSBNM_000046.3(ARSB): c.1143-8T> Gsingle nucleotide variantPathogenicrs431905496GRCh37Chr 5, 78135257: 78135257

Expression for genes affiliated with Mucopolysaccharidosis Type Vi

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

Pathways for genes affiliated with Mucopolysaccharidosis Type Vi

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3ARSA, ARSB
2
Show member pathways
8.5ARSA, ARSB, ARSH
3
Show member pathways
8.5ARSA, ARSB, ARSH
4
Show member pathways
8.5ARSA, ARSB, ARSH
5
Show member pathways
8.5ARSH, ARSB, ARSA

Compounds for genes affiliated with Mucopolysaccharidosis Type Vi

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Mucopolysaccharidosis Type Vi according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1n-acetylglucosamine439.5ARSA, ARSB
2p-nitrocatechol sulfate439.4ARSA, ARSH
3mannose 6-phosphate43 2410.4ARSA, ARSB
4n-acetylgalactosamine 6-sulfate439.4ARSA, ARSH
5sulfatide439.4ARSH, ARSA
6dhea439.3ARSA, ARSH
7mannose439.2ARSB, ARSA
8chondroitin sulfate43 2410.1ARSH, ARSB
9hydrogen43 2410.1ARSA, ARSH
10formylglycine438.8ARSA, ARSB, ARSH
11heparan sulfate43 249.8ARSA, ARSH
12mucopolysaccharide438.8ARSA, ARSB, ARSH
13cerebroside438.8ARSH, ARSB, ARSA
14estrone43 28 24 1211.8ARSH, ARSB, ARSA
15glycosaminoglycan438.8ARSA, ARSB, ARSH
16sulfate43 249.8ARSH, ARSB, ARSA
17steroid438.7ARSA, ARSB, ARSH
18cysteine438.7ARSH, ARSB, ARSA
19lipid438.5ARSA, ARSB, ARSH

GO Terms for genes affiliated with Mucopolysaccharidosis Type Vi

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.3ARSA, ARSB
2lysosomal lumenGO:00432029.0ARSA, ARSB
3endoplasmic reticulum lumenGO:00057888.4ARSA, ARSB, ARSH

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1response to methylmercuryGO:00515979.5ARSA, ARSB
2response to pHGO:00092689.5ARSA, ARSB
3response to estrogenGO:00436279.4ARSA, ARSB
4autophagyGO:00069149.3ARSA, ARSB
5response to nutrientGO:00075849.2ARSB, ARSA
6central nervous system developmentGO:00074179.0ARSA, ARSB
7glycosphingolipid metabolic processGO:00066878.7ARSA, ARSB, ARSH
8sphingolipid metabolic processGO:00066658.7ARSA, ARSB, ARSH
9post-translational protein modificationGO:00436878.7ARSH, ARSB, ARSA
10cellular protein metabolic processGO:00442678.6ARSH, ARSB, ARSA
11small molecule metabolic processGO:00442818.5ARSA, ARSB, ARSH

Molecular functions related to Mucopolysaccharidosis Type Vi according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:00040658.5ARSA, ARSB, ARSH

Products for genes affiliated with Mucopolysaccharidosis Type Vi

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mucopolysaccharidosis Type Vi

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet