MPS
MCID: MCP010
MIFTS: 61

Mucopolysaccharidosis (MPS) malady

Metabolic diseases category

Summaries for Mucopolysaccharidosis

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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

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

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Sources:
17GeneCards, 18GeneDecks
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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

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Sources:
46OMIM
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Clinical features from OMIM:

607014

Drugs & Therapeutics for Mucopolysaccharidosis

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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

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Sources:
22GTR
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Genetic tests related to Mucopolysaccharidosis:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis22

Anatomical Context for Mucopolysaccharidosis

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32MalaCards
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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

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36MGI
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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

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Sources:
50PubMed
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Articles related to Mucopolysaccharidosis:

(show top 50)    (show all 966)
idTitleAuthorsYear
1
High-Resolution Magnetic Resonance Microscopy and Diffusion Tensor Imaging to Assess Brain Structural Abnormalities in the Murine Mucopolysaccharidosis VII Model. (24335527)
2014
2
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. (23465405)
2013
3
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. (24221504)
2013
4
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. (23529876)
2013
5
Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II. (22433425)
2012
6
Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. (22547151)
2012
7
A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. (22815736)
2012
8
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. (23022072)
2012
9
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms. (21521498)
2011
10
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test. (22028789)
2011
11
Chronic otitis media in mucopolysaccharidosis may not be due to Eustachian tube dysfunction. (20833438)
2011
12
Histopathologic changes of the ear in canine models of mucopolysaccharidosis types I and VII. (20930106)
2011
13
Cardiac disease in mucopolysaccharidosis type I attributed to catecholaminergic and hemodynamic deficiencies. (21076027)
2011
14
Mucopolysaccharidosis type II: skeletal-muscle system involvement. (20354449)
2010
15
Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. (20337777)
2010
16
Central corneal thickness in mucopolysaccharidosis II and VI. (20098308)
2010
17
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (20961069)
2010
18
Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation. (20455661)
2010
19
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
20
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). (20138557)
2010
21
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. (20655780)
2010
22
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA. (19170061)
2009
23
Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II]. (19573456)
2009
24
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. (19117887)
2009
25
Mucopolysaccharidosis I: management and treatment guidelines. (19117856)
2009
26
Psychological status of patients with mucopolysaccharidosis type II and their parents. (19371276)
2009
27
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. (18339193)
2008
28
Ocular manifestations of mucopolysaccharidosis. (18983804)
2008
29
Gene therapy for mucopolysaccharidosis. (17727324)
2007
30
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome). (17515300)
2007
31
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. (16762159)
2006
32
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (15902564)
2005
33
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. (16133661)
2005
34
Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. (14715900)
2004
35
Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II]. (15192834)
2004
36
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (15126989)
2004
37
Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. (12716937)
2003
38
Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII. (11273777)
2001
39
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)
1998
40
Identification of 12 novel mutations in the alpha-N- acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). (9832037)
1998
41
Noncirrhotic portal hypertension and nodular regenerative hyperplasia of the liver in dogs with mucopolysaccharidosis type I. (9696001)
1998
42
Mobilization and transduction of peripheral blood progenitor cells in patients with mucopolysaccharidosis I. (9919944)
1998
43
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). (9401012)
1997
44
Threatening spinal cord compression during anesthesia in a child with mucopolysaccharidosis VI. (8291716)
1994
45
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele. (1606713)
1992
46
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. (6446239)
1980
47
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. (108106)
1979
48
Oral findings in the Morquio syndrome (mucopolysaccharidosis IV). (803669)
1975
49
Proceedings: The defect in Maroteaux-Lamy disease (mucopolysaccharidosis VI, subtype A): deficiency of N-acetylgalactosamine-4-sulfatase. (4218834)
1974
50
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? (4104008)
1971

Genetic Variations for Mucopolysaccharidosis

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Expression for genes affiliated with Mucopolysaccharidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 29KEGG
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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
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10.2ARSH, ARSE, ARSB
3
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10.2HYAL2, HYAL1, GUSB
4
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10.2IDUA, IDS, ARSB, HYAL1
510.2IDUA, IDS, ARSB, HYAL1
610.2HGSNAT, IDUA, IDS, GNS
7
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10.2ARSH, ARSE, ARSB, GLB1
8
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10.0HGSNAT, IDUA, IDS, GUSB, GLB1, NAGLU
9
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10.0HYAL1, HYAL2, HYAL3, SGSH, ALAS2, NAGLU
109.9GALNS, GUSB, ARSB, GLB1, NAGLU, HYAL1
11
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9.7HGSNAT, LCAT, IDUA, IDS, GNS, GALNS
12
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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

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB
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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

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16Gene Ontology
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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

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  • Antibodies
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Sources for Mucopolysaccharidosis

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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