MPS
MCID: MCP010
MIFTS: 64

Mucopolysaccharidosis (MPS) malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases categories
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Summaries for Mucopolysaccharidosis

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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 based summary: Mucopolysaccharidosis, also known as mucopolysaccharidoses, is related to sly syndrome 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:65 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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Mucopolysaccharidosis, Aliases & Descriptions:

Name: Mucopolysaccharidosis 8 65 42 22 10 44
Mucopolysaccharidoses 62
 
Mps 42


Classifications:



External Ids:

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

Related Diseases for Mucopolysaccharidosis

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Diseases in the Mucopolysaccharidosis I family:

Mucopolysaccharidosis Ii Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iv Mucopolysaccharidosis Vi
Mucopolysaccharidosis Ix mucopolysaccharidosis
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1sly syndrome31.2GUSB, IDUA
2mucopolysaccharidosis iv31.1GALNS, GUSB
3mucopolysaccharidosis type iiid30.9SGSH, GNS
4metachromatic leukodystrophy30.3ARSB
5mental retardation29.7GUSB, IDS, IDUA
6lysosomal storage disease29.3IDUA, IDS, GUSB, SGSH, GALNS, ARSB
7mucopolysaccharidosis i11.0
8mucopolysaccharidosis vi11.0
9mucopolysaccharidosis ii10.8
10mucopolysaccharidosis iii10.8
11mucopolysaccharidosis ix10.4
12mucopolysaccharidosis type iiic10.4
13mucopolysaccharidosis ih10.4
14hematopoietic stem cell transplantation10.3
15hydrops fetalis10.3
16neuronitis10.3
17mucopolysaccharidosis ih/s10.3
18mucopolysaccharidosis type 2, attenuated form10.3
19mucopolysaccharidosis type 2, severe form10.3
20mucolipidosis10.2
21retinitis10.2
22mucopolysaccharidisis type iiia10.2
23pancreatitis10.2
24pneumonia10.2
25mycoplasmal pneumonia10.2
26epidermolysis bullosa simplex-mp10.2
27hepatitis10.2
28multiple myeloma10.2
29myeloma10.2
30autoimmune pancreatitis10.2
31hydrocephalus10.1
32endocardial fibroelastosis10.1
33mucosulfatidosis10.1
34cervicitis10.1
35neurologic diseases10.1
36blindness10.1
37mucopolysaccharidosis type 6, slowly progressing10.1
38non-immune hydrops fetalis10.1
39immune hydrops fetalis10.1
40ankylosis10.1
41myofascial pain syndrome10.1
42vasculitis10.1
43epidermolysis bullosa simplex with mottled pigmentation10.1
44gaucher's disease10.1IDUA, GUSB
45thrombocytopenia10.1GUSB, IDUA
46fucosidosis10.0
47retinitis pigmentosa10.0
48mongolian spot10.0
49carpal tunnel syndrome10.0
50diarrhea10.0

Graphical network of the top 20 diseases related to Mucopolysaccharidosis:



Diseases related to mucopolysaccharidosis

Symptoms for Mucopolysaccharidosis

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Clinical features from OMIM:

607014

Drugs & Therapeutics for Mucopolysaccharidosis

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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis

Search NIH Clinical Center for Mucopolysaccharidosis

Genetic Tests for Mucopolysaccharidosis

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Genetic tests related to Mucopolysaccharidosis:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis22

Anatomical Context for Mucopolysaccharidosis

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MalaCards organs/tissues related to Mucopolysaccharidosis:

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

Animal Models for Mucopolysaccharidosis or affiliated genes

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MGI Mouse Phenotypes related to Mucopolysaccharidosis:

36
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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Articles related to Mucopolysaccharidosis:

(show top 50)    (show all 990)
idTitleAuthorsYear
1
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. (25256405)
2014
2
Laronidase hypersensitivity and desensitization in type I mucopolysaccharidosis: a case report. (25313426)
2014
3
Heparan sulphate saccharides modify focal adhesions: Implication in mucopolysaccharidosis neuropathophysiology. (25268803)
2014
4
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). (24399699)
2014
5
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. (23465405)
2013
6
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. (22971960)
2013
7
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
8
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. (23458163)
2013
9
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (23562162)
2013
10
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. (22689975)
2012
11
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. (22938833)
2012
12
Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. (21436264)
2011
13
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (22059643)
2011
14
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). (21689409)
2011
15
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. (20504305)
2010
16
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. (21808707)
2010
17
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. (19926322)
2010
18
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
19
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. (19373925)
2009
20
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (18518886)
2008
21
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. (18038146)
2008
22
Sly Disease: Mucopolysaccharidosis Type VII. (18948660)
2008
23
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. (18479957)
2008
24
Gene therapy for mucopolysaccharidosis. (17727324)
2007
25
Mucopolysaccharidosis type IV (Morquio syndrome). (17879498)
2007
26
Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis. (16865740)
2006
27
Prediction of neuropathology in mucopolysaccharidosis I patients. (15639191)
2005
28
Mucopolysaccharidosis type II in females: case report and review of literature. (15797184)
2005
29
Laronidase treatment of mucopolysaccharidosis I. (15691212)
2005
30
Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. (12716937)
2003
31
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. (12573255)
2003
32
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. (11668612)
2001
33
Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease). (10779845)
2000
34
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
35
Phenotype correction in murine mucopolysaccharidosis type VII by transplantation of human amniotic epithelial cells after adenovirus-mediated gene transfer. (11144966)
2000
36
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. (10202296)
1999
37
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
38
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. (9155679)
1997
39
Mutations among Italian mucopolysaccharidosis type I patients. (9427149)
1997
40
Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene. (8940265)
1996
41
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). (8747590)
1995
42
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
43
Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII. (8083358)
1994
44
Stereological and morphometric analysis of dermal fibroblasts before and after bone marrow transplantation in a case of mucopolysaccharidosis I Scheie phenotype. (8372638)
1993
45
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). (1303211)
1992
46
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. (1339393)
1992
47
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
48
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (6414952)
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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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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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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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1iduronic acid44 2410.8IDS, IDUA
2daunorubicin44 50 1111.6GUSB, IDUA
3mannose449.5ARSB, IDUA
4mucopolysaccharide449.4ARSB, IDS, IDUA
5n-acetylglucosamine449.3GNS, ARSB
6glucuronic acid449.3GUSB, GALNS
7chondroitin44 2410.3ARSB, GALNS
8mannose 6-phosphate44 2410.2ARSB, GUSB, IDUA
9chondroitin sulfate44 2410.0ARSB, GALNS
10dermatan44 249.9ARSB, GUSB, IDS, IDUA
11heparin44 28 24 1111.8GALNS, GUSB, IDUA
12Keratan248.8GALNS, GNS, GUSB
13steroid448.6ARSB, GNS, IDS
14heparan sulfate44 249.1IDUA, IDS, GNS, SGSH, GALNS
15dermatan sulfate448.1IDUA, IDS, GUSB, GALNS, ARSB
16glycosaminoglycan447.7ARSB, GALNS, SGSH, GUSB, IDS, IDUA
17sulfate44 248.4IDUA, IDS, GUSB, GNS, GALNS, ARSB
18calcium44 50 24 1110.4IDS, GUSB, GNS, SGSH, GALNS, ARSB
19Water247.4IDUA, IDS, GUSB, GNS, GALNS, ARSB

GO Terms for genes affiliated with Mucopolysaccharidosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet