MPS
MCID: MCP010
MIFTS: 61

Mucopolysaccharidosis (MPS) malady

Metabolic diseases category

Summaries for Mucopolysaccharidosis

About this section
Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Disease Ontology:8 A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

MalaCards: Mucopolysaccharidosis, also known as mucopolysaccharidoses, is related to mucopolysaccharidosis i and mucopolysaccharidosis vi. An important gene associated with Mucopolysaccharidosis is SGSH (N-sulfoglucosamine sulfohydrolase), and among its related pathways are Keratan sulfate biosynthesis and PTM: gamma carboxylation, hypusine formation and arylsulfatase activation. The compounds n-acetylgalactosamine 6-sulfate and formylglycine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related mouse phenotypes are craniofacial and vision/eye.

Wikipedia:63 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Description from OMIM:46 607014

Aliases & Classifications for Mucopolysaccharidosis

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 27ICD9CM, 34MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

mucopolysaccharidosis 8 63 42 22 10 44
mucopolysaccharidoses 60
mps 42


External Ids:

Disease Ontology8 DOID:12798
OMIM46 607014
NCIt39 C61259
ICD9CM27 277.5
MeSH34 D009083
ICD1025 E76.3

Related Diseases for Mucopolysaccharidosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Mucopolysaccharidosis Iv family:

Mucopolysaccharidosis Vi Mucopolysaccharidosis I
Mucopolysaccharidosis Iii Mucopolysaccharidosis Ii
Mucopolysaccharidosis Ix mucopolysaccharidosis
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis Ih

Diseases related to Mucopolysaccharidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis i31.6ARSH, IDUA
2mucopolysaccharidosis vi31.5ARSB, ARSH
3mucopolysaccharidosis ii31.4ARSH, IDS
4mucopolysaccharidosis iii31.1M6PR, ARSH, NAGLU, SGSH
5mucopolysaccharidosis iv31.0GALNS, GUSB, ARSH, GLB1
6sly syndrome30.8GUSB
7mucopolysaccharidosis ix30.5HYAL1
8lysosomal storage disease30.4M6PR
9mucolipidosis30.2GLB1, LCAT
10mucosulfatidosis30.1ARSB, ARSH
11leukodystrophy29.7ARSH
12gangliosidosis29.7GALNS, GLB1
13metachromatic leukodystrophy29.7ARSH, ARSB
14mucopolysaccharidosis ih10.3
15mucopolysaccharidoses10.3
16neuronitis10.3
17mucopolysaccharidosis type iiic10.2
18mucopolysaccharidosis type iiid10.2
19n syndrome10.2
20retinitis10.2
21pancreatitis10.2
22pneumonia10.2
23hepatitis10.1
24mucopolysaccharidosis type 6, slowly progressing10.1
25mucopolysaccharidosis type 2, attenuated form10.1
26mucopolysaccharidosis type 2, severe form10.1
27multiple myeloma10.1
28myeloma10.1
29epidermolysis bullosa simplex-mp10.1
30endocardial fibroelastosis10.1
31hydrocephalus10.1
32neurologic diseases10.1
33image syndrome10.1
34mucopolysaccharidisis type iiia10.1
35mucopolysaccharidosis type 6, rapidly progressing10.1
36myofascial pain syndrome10.0
37ankylosis10.0
38vasculitis10.0
39epidermolysis bullosa simplex with mottled pigmentation10.0
40corneal disease10.0
41fucosidosis10.0
42mongolian spot10.0
43carpal tunnel syndrome10.0
44retinitis pigmentosa10.0
45adult syndrome10.0
46brain disease10.0
47cervicitis10.0
48diarrhea10.0
49muenke syndrome10.0
50morquio syndrome b10.0

Graphical network of the top 20 diseases related to Mucopolysaccharidosis:



Diseases related to mucopolysaccharidosis

Clinical Features for Mucopolysaccharidosis

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

607014

Drugs & Therapeutics for Mucopolysaccharidosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Mucopolysaccharidosis

Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis

Search NIH Clinical Center for Mucopolysaccharidosis

Search CenterWatch for Mucopolysaccharidosis

Genetic Tests for Mucopolysaccharidosis

About this section
Sources:
22GTR
See all sources

Genetic tests related to Mucopolysaccharidosis:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis22

Anatomical Context for Mucopolysaccharidosis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Mucopolysaccharidosis:

32
Bone, Skin, Brain, Bone marrow, Liver, Testes, Spinal cord, Spleen, Endothelial, Lung, Placenta, T cells, Skeletal muscle, Heart, Cerebellum, Tongue, Eye, Fetal liver

Animal Models for Mucopolysaccharidosis or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Mucopolysaccharidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.1IDUA, IDS, GUSB, ARSB, NAGLU, HYAL2
2MP:000539110.0LCAT, IDUA, IDS, GALNS, ARSB, NAGLU
3MP:000537010.0LCAT, IDUA, GLB1, NAGLU, HYAL1, HYAL2
4MP:00053869.9IDUA, IDS, GUSB, ARSB, GLB1, NAGLU
5MP:00053679.9SGSH, M6PR, LCAT, IDUA, GALNS, GUSB
6MP:00053909.8M6PR, IDUA, IDS, GALNS, GUSB, ARSB
7MP:00053979.7LCAT, IDUA, GUSB, ARSB, GLB1, NAGLU
8MP:00053849.5M6PR, IDUA, IDS, GALNS, GUSB, ARSB

Publications for Mucopolysaccharidosis

About this section
Sources:
50PubMed
See all sources

Articles related to Mucopolysaccharidosis:

(show top 50)    (show all 966)
idTitleAuthorsYear
1
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (23562162)
2013
2
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (NaglazymeAr) therapy. (22669363)
2013
3
In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients. (24359664)
2013
4
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. (24373060)
2013
5
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I. (24378468)
2013
6
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany. (23826140)
2013
7
Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I. (23430808)
2013
8
Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II). (23370478)
2013
9
Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey. (21866356)
2012
10
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. (22521955)
2012
11
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). (22071845)
2011
12
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking I+-l-iduronidase. (21873421)
2011
13
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. (23430829)
2011
14
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles. (21394825)
2011
15
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. (21917494)
2011
16
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. (21119624)
2011
17
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA. (21030685)
2011
18
Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha- glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. (20650889)
2010
19
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). (20583299)
2010
20
Guidelines for the management of mucopolysaccharidosis type I. (19765409)
2009
21
Widespread biochemical correction of murine mucopolysaccharidosis type VII pathology by liver hydrodynamic plasmid delivery. (19357715)
2009
22
Mucopolysaccharidosis: 20-year enzymatic diagnosis in Cuba]. (19859885)
2009
23
Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]. (19099774)
2008
24
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI. (18248830)
2008
25
Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy. (17160613)
2007
26
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID). (16990043)
2007
27
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). (16912578)
2006
28
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. (16632276)
2006
29
Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-Ig. (16698321)
2006
30
Mucopolysaccharidosis type II in females: case report and review of literature. (15797184)
2005
31
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. (15649123)
2005
32
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. (14974081)
2004
33
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. (15083297)
2004
34
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population. (12818523)
2003
35
Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. (12601395)
2003
36
Gene transfer of low levels of beta-glucuronidase corrects hepatic lysosomal storage in a large animal model of mucopolysaccharidosis VII. (11124056)
2000
37
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. (10735634)
2000
38
Single cell analysis and selection of living retrovirus vector-corrected mucopolysaccharidosis VII cells using a fluorescence-activated cell sorting-based assay for mammalian beta-glucuronidase enzymatic activity. (9872999)
1999
39
Accumulation of intracellular amyloid-beta peptide (A beta 1-40) in mucopolysaccharidosis brains. (10446806)
1999
40
Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population. (7532616)
1995
41
Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer. (7644479)
1995
42
The locus responsible for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is located on rat chromosome 2. (8020950)
1994
43
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. (8089138)
1994
44
Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus. (8233684)
1993
45
Hunter syndrome (mucopolysaccharidosis II). (2113673)
1990
46
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (6414952)
1983
47
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A. (117063)
1979
48
Sialogluciduria in lysosomal diseases: quantitative and qualitative analysis of urinary low molecular sialoglucides from patients with mucopolysaccharidosis and with mucolipidosis. (96548)
1978
49
Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis). (4247654)
1969
50
Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV). (4229430)
1968

Genetic Variations for Mucopolysaccharidosis

About this section

Expression for genes affiliated with Mucopolysaccharidosis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidosis

Search GEO for disease gene expression data for Mucopolysaccharidosis.

Pathways for genes affiliated with Mucopolysaccharidosis

About this section
Sources:
53Reactome, 29KEGG
See all sources

Pathways related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3GLB1, GALNS, GNS
2
Hide members
10.2ARSH, ARSE, ARSB
3
Hide members
10.2HYAL2, HYAL1, GUSB
4
Hide members
10.2IDUA, IDS, ARSB, HYAL1
510.2IDUA, IDS, ARSB, HYAL1
610.2HGSNAT, IDUA, IDS, GNS
7
Hide members
10.2ARSH, ARSE, ARSB, GLB1
8
Hide members
10.0HGSNAT, IDUA, IDS, GUSB, GLB1, NAGLU
9
Hide members
10.0HYAL1, HYAL2, HYAL3, SGSH, ALAS2, NAGLU
109.9GALNS, GUSB, ARSB, GLB1, NAGLU, HYAL1
11
Hide members
9.7HGSNAT, LCAT, IDUA, IDS, GNS, GALNS
12
Hide members
9.6GALNS, GNS, IDS, IDUA, HGSNAT, GUSB
139.6M6PR, SGSH, HYAL1, NAGLU, GLB1, ARSB
149.5SGSH, HYAL3, HYAL2, HYAL1, NAGLU, GLB1

Compounds for genes affiliated with Mucopolysaccharidosis

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB
See all sources

Compounds related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1n-acetylgalactosamine 6-sulfate4410.6GALNS, ARSH
2formylglycine4410.6ARSH, ARSB
3p-cresol4410.6ARSH, GUSB
4glucuronic acid4410.6ARSH, GUSB, GALNS
5ether4410.6ARSH, GUSB, LCAT
6cerebroside4410.6ARSB, ARSH
7mucopolysaccharide4410.6IDUA, IDS, ARSH, ARSB
8dermatan44 2411.6ARSB, GUSB, IDS, IDUA
9chondroitin44 2411.6GLB1, ARSB, GALNS
10iduronic acid44 2411.6IDUA, IDS
11dermatan sulfate4410.5IDUA, IDS, GALNS, GUSB, ARSB
12ulinastatin4410.5NAGLU, GUSB
13n-acetylglucosamine4410.5NAGLU, ARSB, GNS
14hyaluronic acid44 2411.5GALNS, NAGLU, HYAL1, HYAL2
15chondroitin sulfate44 2411.5GALNS, ARSH, ARSB, GLB1, HYAL1
16mannose 6-phosphate44 2411.5M6PR, IDUA, GUSB, ARSB, NAGLU
17bisphenol a4410.5ARSH, GUSB
18sulfatide4410.4GLB1, ARSH
19estrone44 28 11 2413.4ARSH, ARSE, ARSB
20butyrate4410.4LCAT, GUSB, ARSH, ALAS2
21gentamicin44 1111.4IDUA, NAGLU
22heparin44 28 11 2413.4LCAT, IDUA, GALNS, GUSB, ARSH, NAGLU
23steroid4410.4IDS, GNS, ARSH, ARSE, ARSB, NAGLU
24glycosaminoglycan4410.3IDUA, IDS, GALNS, GUSB, ARSH, ARSB
25daidzein4410.3GUSB, ARSH
26cysteine4410.3M6PR, LCAT, IDS, GALNS, ARSH, ARSB
27sulfate44 2411.3NAGLU, IDUA, IDS, GNS, GALNS, GUSB
28heparan sulfate44 2411.2M6PR, HGSNAT, IDUA, IDS, GNS, GALNS
29keratan sulfate4410.2GALNS, GLB1
30calcium44 49 11 2413.1IDS, GNS, GALNS, GUSB, ARSH, ARSE
31lipid4410.0HYAL2, NAGLU, ARSB, ARSH, LCAT, M6PR
32arginine449.8M6PR, IDUA, GALNS, ARSH, ALAS2

GO Terms for genes affiliated with Mucopolysaccharidosis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:03141010.2HYAL3, HYAL2, HYAL1
2lysosomeGO:0057649.8ARSB, NAGLU, HYAL1, HYAL2, HYAL3
3lysosomal lumenGO:0432029.7SGSH, IDUA, IDS, GNS, GALNS, GUSB

Biological processes related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:04234010.5GLB1, GALNS, GNS
2chondroitin sulfate catabolic processGO:03020710.5IDUA, IDS, ARSB, HYAL1
3cellular response to UV-BGO:07149310.5HYAL1, HYAL2, HYAL3
4chondroitin sulfate metabolic processGO:03020410.5IDUA, IDS, ARSB, HYAL1
5lysosome organizationGO:00704010.5NAGLU, ARSB, IDUA
6hyaluronan metabolic processGO:03021210.5HYAL2, HYAL1, GUSB
7hyaluronan catabolic processGO:03021410.5GUSB, HYAL1, HYAL2, HYAL3
8glycosphingolipid metabolic processGO:00668710.5GLB1, ARSB, ARSE, ARSH
9response to antibioticGO:04667710.5HYAL1, HYAL2, HYAL3
10lysosomal transportGO:00704110.5HGSNAT, ARSB
11keratan sulfate metabolic processGO:04233910.4GNS, GALNS, GLB1
12sphingolipid metabolic processGO:00666510.4ARSH, ARSE, ARSB, GLB1
13cellular response to interleukin-1GO:07134710.4HYAL3, HYAL2, HYAL1
14cellular response to tumor necrosis factorGO:07135610.4HYAL3, HYAL2, HYAL1
15skeletal system morphogenesisGO:04870510.3HYAL2, IDUA
16response to reactive oxygen speciesGO:00030210.3HYAL2, HYAL1
17cartilage developmentGO:05121610.3HYAL3, HYAL2, HYAL1
18glycosaminoglycan catabolic processGO:00602710.2HGSNAT, IDUA, IDS, GNS, GUSB, GLB1
19response to virusGO:00961510.1HYAL1, HYAL2, HYAL3
20cellular response to fibroblast growth factor stimulusGO:04434410.0HYAL2, HYAL1
21glycosaminoglycan metabolic processGO:03020310.0GUSB, ARSB, GLB1, NAGLU, HYAL1, HYAL2
22carbohydrate metabolic processGO:0059759.9HGSNAT, IDUA, IDS, GNS, GALNS, GUSB
23small molecule metabolic processGO:0442819.6GALNS, GUSB, ARSH, ARSE, ARSB, GLB1

Molecular functions related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sulfuric ester hydrolase activityGO:00848410.4SGSH, GALNS, GNS
2hyalurononglucosaminidase activityGO:00441510.3HYAL1, HYAL2, HYAL3
3arylsulfatase activityGO:00406510.3ARSB, ARSE, ARSH
4hyaluronoglucuronidase activityGO:03390610.3HYAL2, HYAL3
5N-acetylgalactosamine-4-sulfatase activityGO:00394310.2GALNS, ARSB
6virus receptor activityGO:0016189.9HYAL3, HYAL2, HYAL1
7metal ion bindingGO:0468729.9GNS, ZSCAN1, GALNS, ARSH, ARSE, ARSB

Products for genes affiliated with Mucopolysaccharidosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis

About this section
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