MCID: MCP010
MIFTS: 56

Mucopolysaccharidosis malady

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

Aliases & Classifications for Mucopolysaccharidosis

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Mucopolysaccharidosis, Aliases & Descriptions:

Name: Mucopolysaccharidosis 9 63 41 11 43 22
Mucopolysaccharidoses 60
 
Mps 41


Classifications:



External Ids:

Disease Ontology9 DOID:12798
MeSH33 D009083
NCIt38 C61259
ICD9CM27 277.5
ICD1025 E76.3

Summaries for Mucopolysaccharidosis

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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 based summary: Mucopolysaccharidosis, also known as mucopolysaccharidoses, is related to mucopolysaccharidosis vii and mucopolysaccharidosis type iiib. 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:63 Mucopolysaccharidosis are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Related Diseases for Mucopolysaccharidosis

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Diseases in the Mucopolysaccharidosis family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis Ih Mucopolysaccharidosis is
Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Type Vi
Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Iiic
Mucopolysaccharidosis Type Iiid Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Ii
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis vii31.5IDUA, GUSB
2mucopolysaccharidosis type iiib31.1GNS, SGSH
3mucopolysaccharidosis iv31.0GALNS, GUSB
4metachromatic leukodystrophy30.3ARSB
5mental retardation29.7IDUA, IDS, GUSB
6lysosomal storage disease29.3IDS, GUSB, SGSH, GALNS, ARSB, IDUA
7mucopolysaccharidosis type vi10.9
8mucopolysaccharidosis ii10.8
9mucopolysaccharidosis iii10.8
10mucopolysaccharidosis iva10.7
11mucopolysaccharidosis is10.7
12mucopolysaccharidosis type iiic10.5
13mucopolysaccharidosis type iiid10.4
14mucopolysaccharidosis type ivb10.4
15mucopolysaccharidosis ih10.4
16mucopolysaccharidosis type ix10.4
17mucopolysaccharidosis ih/s10.4
18hematopoietic stem cell transplantation10.3
19hydrops fetalis10.3
20epidermolysis bullosa simplex-mp10.3
21neuronitis10.3
22mucopolysaccharidosis type 2, attenuated form10.3
23mucopolysaccharidosis type 2, severe form10.3
24retinitis10.3
25mucolipidosis10.2
26pneumonia10.2
27mycoplasmal pneumonia10.2
28hepatitis10.2
29cervicitis10.2
30multiple myeloma10.2
31myeloma10.2
32autoimmune pancreatitis10.2
33c syndrome10.1
34mucopolysaccharidisis type iiia10.1
35hydrocephalus10.1
36retinitis pigmentosa10.1
37endocardial fibroelastosis10.1
38neurologic diseases10.1
39blindness10.1
40mucopolysaccharidosis type 6, slowly progressing10.1
41mucopolysaccharidosis type 6, rapidly progressing10.1
42non-immune hydrops fetalis10.1
43immune hydrops fetalis10.1
44ankylosis10.1
45myofascial pain syndrome10.1
46vasculitis10.1
47gaucher's disease10.1IDUA, GUSB
48thrombocytopenia10.1IDUA, GUSB
49fucosidosis10.0
50multiple sulfatase deficiency10.0

Graphical network of the top 20 diseases related to Mucopolysaccharidosis:



Diseases related to mucopolysaccharidosis

Symptoms for Mucopolysaccharidosis

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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:

31
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:

35
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 1015)
idTitleAuthorsYear
1
Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I. (25410057)
2015
2
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures. (25732999)
2015
3
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). (25892708)
2015
4
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. (25256405)
2014
5
Laronidase hypersensitivity and desensitization in type I mucopolysaccharidosis: a case report. (25313426)
2014
6
Heparan sulphate saccharides modify focal adhesions: Implication in mucopolysaccharidosis neuropathophysiology. (25268803)
2014
7
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. (23465405)
2013
8
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. (22971960)
2013
9
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
10
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. (23458163)
2013
11
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (23562162)
2013
12
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. (22689975)
2012
13
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. (22938833)
2012
14
Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. (21436264)
2011
15
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (22059643)
2011
16
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). (21689409)
2011
17
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. (20504305)
2010
18
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. (21808707)
2010
19
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
20
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. (19373925)
2009
21
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (18518886)
2008
22
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. (18038146)
2008
23
Sly Disease: Mucopolysaccharidosis Type VII. (18948660)
2008
24
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. (18479957)
2008
25
Gene therapy for mucopolysaccharidosis. (17727324)
2007
26
Mucopolysaccharidosis type IV (Morquio syndrome). (17879498)
2007
27
Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis. (16865740)
2006
28
Prediction of neuropathology in mucopolysaccharidosis I patients. (15639191)
2005
29
Mucopolysaccharidosis type II in females: case report and review of literature. (15797184)
2005
30
Laronidase treatment of mucopolysaccharidosis I. (15691212)
2005
31
Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. (12716937)
2003
32
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. (12573255)
2003
33
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. (11668612)
2001
34
Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease). (10779845)
2000
35
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
36
Phenotype correction in murine mucopolysaccharidosis type VII by transplantation of human amniotic epithelial cells after adenovirus-mediated gene transfer. (11144966)
2000
37
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. (10202296)
1999
38
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
39
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. (9155679)
1997
40
Mutations among Italian mucopolysaccharidosis type I patients. (9427149)
1997
41
Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene. (8940265)
1996
42
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). (8747590)
1995
43
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
44
Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII. (8083358)
1994
45
Stereological and morphometric analysis of dermal fibroblasts before and after bone marrow transplantation in a case of mucopolysaccharidosis I Scheie phenotype. (8372638)
1993
46
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). (1303211)
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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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 Suite gene sharing:

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:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank, 28IUPHAR
See all sources

Compounds related to Mucopolysaccharidosis according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1iduronic acid43 2410.8IDS, IDUA
2daunorubicin43 49 1211.6GUSB, IDUA
3mannose439.5ARSB, IDUA
4mucopolysaccharide439.4ARSB, IDS, IDUA
5n-acetylglucosamine439.3GNS, ARSB
6glucuronic acid439.3GUSB, GALNS
7chondroitin43 2410.3ARSB, GALNS
8mannose 6-phosphate43 2410.2ARSB, GUSB, IDUA
9chondroitin sulfate43 2410.0ARSB, GALNS
10dermatan43 249.9ARSB, GUSB, IDS, IDUA
11heparin43 28 24 1211.8GALNS, GUSB, IDUA
12Keratan248.8GALNS, GNS, GUSB
13steroid438.6ARSB, GNS, IDS
14heparan sulfate43 249.1IDUA, IDS, GNS, SGSH, GALNS
15dermatan sulfate438.1IDUA, IDS, GUSB, GALNS, ARSB
16glycosaminoglycan437.7ARSB, GALNS, SGSH, GUSB, IDS, IDUA
17sulfate43 248.4IDUA, IDS, GUSB, GNS, GALNS, ARSB
18calcium43 49 24 1210.4IDS, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432026.7ARSB, GALNS, SGSH, GNS, GUSB, IDS

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1lysosome organizationGO:00070409.2IDUA, ARSB
2chondroitin sulfate catabolic processGO:00302079.2IDS, ARSB, IDUA
3chondroitin sulfate metabolic processGO:00302049.1ARSB, IDS, IDUA
4keratan sulfate metabolic processGO:00423399.0GNS, GALNS
5keratan sulfate catabolic processGO:00423408.9GNS, GALNS
6glycosaminoglycan catabolic processGO:00060278.2IDUA, IDS, GUSB, SGSH, GNS
7glycosaminoglycan metabolic processGO:00302036.9IDS, ARSB, GALNS, SGSH, GNS, GUSB
8carbohydrate metabolic processGO:00059756.9ARSB, GALNS, SGSH, GNS, GUSB, IDS
9small molecule metabolic processGO:00442816.9GUSB, IDS, GNS, SGSH, GALNS, ARSB

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

idNameGO IDScoreTop Affiliating Genes
1N-acetylgalactosamine-4-sulfatase activityGO:00039438.8ARSB, GALNS
2sulfuric ester hydrolase activityGO:00084848.6GALNS, SGSH, GNS
3metal ion bindingGO:00468727.7GNS, SGSH, GALNS, ARSB, IDS

Products for genes affiliated with Mucopolysaccharidosis

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  • Antibodies
  • Proteins
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  • Proteins
  • Kits and Assays

Sources for Mucopolysaccharidosis

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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