MPS
MCID: MCP010
MIFTS: 63

Mucopolysaccharidosis (MPS) malady

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

Summaries for Mucopolysaccharidosis

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 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 iii and mucopolysaccharidosis iv. An important gene associated with Mucopolysaccharidosis is SGSH (N-sulfoglucosamine sulfohydrolase), and among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds iduronic acid and daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Wikipedia:66 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Description from OMIM:48 607014

Aliases & Classifications for Mucopolysaccharidosis

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Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 28ICD9CM, 48OMIM, 26ICD10
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Classifications:



Aliases & Descriptions:

mucopolysaccharidosis 9 66 44 23 11 46
mucopolysaccharidoses 63
mps 44


External Ids:

Disease Ontology9 DOID:12798
NCIt41 C61259
MeSH36 D009083
ICD9CM28 277.5
OMIM48 607014
ICD1026 E76.3

Related Diseases for Mucopolysaccharidosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Mucopolysaccharidosis Iv family:

Mucopolysaccharidosis Ix Mucopolysaccharidosis Vi
Mucopolysaccharidosis Iii Mucopolysaccharidosis I
Mucopolysaccharidosis Ii 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 138)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis iii31.2SGSH, GNS
2mucopolysaccharidosis iv31.1GALNS, GUSB
3sly syndrome30.9GUSB, IDUA
4lysosomal storage disease30.2IDUA, IDS, GUSB, SGSH, GALNS, ARSB
5metachromatic leukodystrophy29.9ARSB
6mental retardation29.8GUSB, IDS, IDUA
7skeletal dysplasias29.8GUSB, GALNS
8mucopolysaccharidosis i11.0
9mucopolysaccharidosis vi10.9
10mucopolysaccharidosis ii10.8
11mucopolysaccharidosis ih10.5
12mucopolysaccharidosis ix10.4
13mucopolysaccharidosis type iiic10.4
14mucopolysaccharidosis type iiid10.4
15hydrops fetalis10.3
16hematopoietic stem cell transplantation10.3
17neuronitis10.3
18mucopolysaccharidosis type 2, attenuated form10.3
19mucopolysaccharidosis type 2, severe form10.3
20retinitis10.2
21pancreatitis10.2
22pneumonia10.2
23mycoplasmal pneumonia10.2
24mucolipidosis10.2
25hepatitis10.2
26mucopolysaccharidisis type iiia10.2
27multiple myeloma10.2
28myeloma10.2
29autoimmune pancreatitis10.2
30epidermolysis bullosa simplex-mp10.2
31endocardial fibroelastosis10.1
32mucosulfatidosis10.1
33hydrocephalus10.1
34neurologic diseases10.1
35blindness10.1
36mucopolysaccharidosis type 6, slowly progressing10.1
37non-immune hydrops fetalis10.1
38immune hydrops fetalis10.1
39ankylosis10.1
40myofascial pain syndrome10.1
41vasculitis10.1
42epidermolysis bullosa simplex with mottled pigmentation10.1
43retinitis pigmentosa10.0
44mongolian spot10.0
45carpal tunnel syndrome10.0
46fucosidosis10.0
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

Symptoms for Mucopolysaccharidosis

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Sources:
48OMIM
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Clinical features from OMIM:

607014

Drugs & Therapeutics for Mucopolysaccharidosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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:
23GTR
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Genetic tests related to Mucopolysaccharidosis:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis23

Anatomical Context for Mucopolysaccharidosis

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Sources:
34MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis:

34
Bone, Skin, Brain, Bone marrow, Liver, Spinal cord, Testes, Spleen, Endothelial, Cerebellum, Tongue, T cells, Placenta, Eye, Lung, Skeletal muscle, Heart, Fetal liver

Animal Models for Mucopolysaccharidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mucopolysaccharidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0ARSB, GUSB, IDUA
2MP:00053778.7IDUA, GUSB, ARSB
3MP:00053718.6ARSB, GUSB, IDS, IDUA
4MP:00107718.6SGSH, GUSB, IDS, IDUA
5MP:00053828.4IDUA, IDS, GUSB, SGSH, ARSB
6MP:00053868.2IDUA, IDS, GUSB, SGSH, ARSB
7MP:00053918.0IDUA, IDS, SGSH, GALNS, ARSB
8MP:00053678.0IDUA, GUSB, SGSH, GALNS, ARSB
9MP:00053907.6ARSB, GALNS, SGSH, GUSB, IDS, IDUA
10MP:00053847.5IDUA, IDS, GUSB, SGSH, GALNS, ARSB

Publications for Mucopolysaccharidosis

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Sources:
53PubMed
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Articles related to Mucopolysaccharidosis:

(show top 50)    (show all 955)
idTitleAuthorsYear
1
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). (24399699)
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
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. (22971960)
2013
4
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. (23232253)
2013
5
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. (23458163)
2013
6
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (23562162)
2013
7
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase. (23988379)
2013
8
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. (22689975)
2012
9
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. (22938833)
2012
10
Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. (21436264)
2011
11
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (22059643)
2011
12
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). (21689409)
2011
13
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. (20504305)
2010
14
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. (21808707)
2010
15
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. (19926322)
2010
16
Enzyme replacement therapy in the home setting for mucopolysaccharidosis VI: a survey of patient characteristics and physicians' early findings in the United States. (19142150)
2009
17
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. (19373925)
2009
18
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (18518886)
2008
19
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. (18038146)
2008
20
Sly Disease: Mucopolysaccharidosis Type VII. (18948660)
2008
21
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. (18479957)
2008
22
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. (18707908)
2008
23
Gene therapy for mucopolysaccharidosis. (17727324)
2007
24
Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis. (16865740)
2006
25
Prediction of neuropathology in mucopolysaccharidosis I patients. (15639191)
2005
26
Mucopolysaccharidosis type II in females: case report and review of literature. (15797184)
2005
27
Laronidase treatment of mucopolysaccharidosis I. (15691212)
2005
28
Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. (12716937)
2003
29
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. (12573255)
2003
30
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. (11668612)
2001
31
Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease). (10779845)
2000
32
Adenovirus-mediated gene therapy for mucopolysaccharidosis VII: involvement of cross-correction in wide-spread distribution of the gene products and long-term effects of CTLA-4Ig coexpression. (10933961)
2000
33
Phenotype correction in murine mucopolysaccharidosis type VII by transplantation of human amniotic epithelial cells after adenovirus-mediated gene transfer. (11144966)
2000
34
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. (10202296)
1999
35
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. (9521421)
1998
36
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. (9155679)
1997
37
Mutations among Italian mucopolysaccharidosis type I patients. (9427149)
1997
38
Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene. (8940265)
1996
39
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). (8747590)
1995
40
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. (7633414)
1995
41
Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII. (8083358)
1994
42
Stereological and morphometric analysis of dermal fibroblasts before and after bone marrow transplantation in a case of mucopolysaccharidosis I Scheie phenotype. (8372638)
1993
43
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). (1303211)
1992
44
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. (1339393)
1992
45
Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I. (2150744)
1990
46
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
47
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (6414952)
1983
48
Spinal cord compression and hindlimb paresis in cats with mucopolysaccharidosis VI. (6406411)
1983
49
Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II. (4343502)
1972
50
Mucopolysaccharidosis IV (MorquiAPs disease) in a twenty-months old child. (5004678)
1971

Variations for Mucopolysaccharidosis

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Expression for genes affiliated with Mucopolysaccharidosis

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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ARSB, IDS, IDUA
2
Show member pathways
8.7IDUA, IDS, GUSB, SGSH
37.6IDUA, IDS, GUSB, GNS, SGSH, ARSB
4
Show member pathways
7.6IDUA, IDS, GUSB, GNS, SGSH, ARSB
56.7IDUA, IDS, GUSB, GNS, SGSH, GALNS
6
Show member pathways
6.7IDUA, IDS, GUSB, GNS, SGSH, GALNS
7
Show member pathways
6.7ARSB, IDUA, IDS, GUSB, GNS, SGSH

Compounds for genes affiliated with Mucopolysaccharidosis

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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 30IUPHAR
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Compounds related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1iduronic acid46 2510.8IDS, IDUA
2daunorubicin46 52 1211.6GUSB, IDUA
3mannose469.5ARSB, IDUA
4mucopolysaccharide469.4ARSB, IDS, IDUA
5n-acetylglucosamine469.3GNS, ARSB
6glucuronic acid469.3GUSB, GALNS
7chondroitin46 2510.3ARSB, GALNS
8mannose 6-phosphate46 2510.2ARSB, GUSB, IDUA
9chondroitin sulfate46 2510.0ARSB, GALNS
10dermatan46 259.9ARSB, GUSB, IDS, IDUA
11heparin46 30 25 1211.8GALNS, GUSB, IDUA
12Keratan258.8GALNS, GNS, GUSB
13steroid468.6ARSB, GNS, IDS
14heparan sulfate46 259.1IDUA, IDS, GNS, SGSH, GALNS
15dermatan sulfate468.1IDUA, IDS, GUSB, GALNS, ARSB
16glycosaminoglycan467.7ARSB, GALNS, SGSH, GUSB, IDS, IDUA
17sulfate46 258.4IDUA, IDS, GUSB, GNS, GALNS, ARSB
18calcium46 52 25 1210.4IDS, GUSB, GNS, SGSH, GALNS, ARSB
19Water257.4IDUA, IDS, GUSB, GNS, GALNS, ARSB

GO Terms for genes affiliated with Mucopolysaccharidosis

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17Gene Ontology
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Cellular components related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432026.7ARSB, GALNS, SGSH, GNS, GUSB, IDS

Biological processes related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1lysosome organizationGO:0070409.2ARSB, IDUA
2chondroitin sulfate catabolic processGO:0302079.2ARSB, IDS, IDUA
3chondroitin sulfate metabolic processGO:0302049.1IDUA, IDS, ARSB
4keratan sulfate metabolic processGO:0423399.0GALNS, GNS
5keratan sulfate catabolic processGO:0423408.9GALNS, GNS
6glycosaminoglycan catabolic processGO:0060278.3IDUA, IDS, GUSB, GNS, SGSH
7glycosaminoglycan metabolic processGO:0302036.9ARSB, IDUA, IDS, GUSB, GNS, SGSH
8carbohydrate metabolic processGO:0059756.9IDUA, IDS, GUSB, GNS, SGSH, GALNS
9small molecule metabolic processGO:0442816.9IDUA, IDS, GUSB, GNS, SGSH, GALNS

Molecular functions related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-acetylgalactosamine-4-sulfatase activityGO:0039438.8ARSB, GALNS
2sulfuric ester hydrolase activityGO:0084848.6GALNS, SGSH, GNS
3metal ion bindingGO:0468727.7GNS, SGSH, GALNS, ARSB, IDS

Products for genes affiliated with Mucopolysaccharidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet