MPS
MCID: MCP010
MIFTS: 55

Mucopolysaccharidosis (MPS) malady

Metabolic category

Summaries for Mucopolysaccharidosis

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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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 iii. 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 formylglycine and n-acetylgalactosamine 6-sulfate have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and vision/eye.

Wikipedia:64 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Description from OMIM:47 607014

Aliases & Classifications for Mucopolysaccharidosis

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 40NCIt, 57SNOMED-CT, 27ICD9CM, 35MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

mucopolysaccharidosis 8 64 43 22 10 45
mucopolysaccharidoses 61
mps 43


External Ids:

Disease Ontology8 DOID:12798
OMIM47 607014
NCIt40 C61259
ICD9CM27 277.5
MeSH35 D009083
ICD1025 E76.3

Related Diseases for Mucopolysaccharidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the mucopolysaccharidosis i family:

mucopolysaccharidosis vi mucopolysaccharidosis iv
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 122)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis i31.7IDUA, ARSH
2mucopolysaccharidosis iii31.3SGSH, NAGLU, ARSH, GNS
3mucopolysaccharidosis ii31.3IDS, ARSH
4mucopolysaccharidosis vi31.1ARSB, ARSH
5mucopolysaccharidosis iv31.0GALNS, GUSB, ARSH, GLB1
6sly syndrome30.8GUSB
7mucopolysaccharidosis ix30.4HYAL1
8mucolipidosis30.2GLB1, LCAT
9mucosulfatidosis30.1ARSB, ARSH
10gaucher's disease29.8ARSH, IDUA, GUSB
11metachromatic leukodystrophy29.8ARSB, ARSH
12mucolipidoses10.5
13n syndrome10.5
14mucopolysaccharidosis type iiic10.4
15mucopolysaccharidosis type iiid10.4
16char syndrome10.3
17hydrops fetalis10.3
18hematopoietic stem cell transplantation10.3
19morquio syndrome b10.3
20morquio syndrome c10.3
21mucopolysaccharidosis ih10.3
22mycoplasmal pneumonia10.2
23mucopolysaccharidosis type 6, slowly progressing10.2
24autoimmune pancreatitis10.1
25epidermolysis bullosa simplex-mp10.1
26endocardial fibroelastosis10.1
27mass syndrome10.1
28mucopolysaccharidisis type iiia10.1
29mucopolysaccharidosis type 6, rapidly progressing10.1
30mucopolysaccharidosis type 2, attenuated form10.1
31mucopolysaccharidosis type 2, severe form10.1
32immune hydrops fetalis10.1
33myofascial pain syndrome10.1
34ankylosis10.1
35vasculitis10.1
36epidermolysis bullosa simplex with mottled pigmentation10.1
37corneal disease10.0
38fucosidosis10.0
39mongolian spot10.0
40carpal tunnel syndrome10.0
41retinitis pigmentosa10.0
42adult syndrome10.0
43brain disease10.0
44muenke syndrome10.0
45pulmonary function10.0
46leukodystrophy10.0ARSH
47lysosomal storage disease10.0M6PR
48short stature10.0ARSE
49gangliosidosis10.0GALNS, GLB1
50cystic fibrosis10.0GUSB, ARSB, GLB1

Graphical network of the top 20 diseases related to Mucopolysaccharidosis:



Diseases related to mucopolysaccharidosis

Clinical Features for Mucopolysaccharidosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607014

Drugs & Therapeutics for Mucopolysaccharidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
See all sources

Genetic tests related to Mucopolysaccharidosis:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis22

Anatomical Context for Mucopolysaccharidosis

Animal Models for Mucopolysaccharidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Mucopolysaccharidosis

Sources:
51PubMed
See all sources

Articles related to Mucopolysaccharidosis:

(show top 50)    (show all 966)
idTitleAuthorsYear
1
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
2
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. (22704873)
2013
3
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients. (24125893)
2013
4
Hip dysplasia in patients with Hurler syndrome (mucopolysaccharidosis type 1H). (23812141)
2013
5
Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. (23167761)
2013
6
Mucopolysaccharidosis Type II and the G374sp Mutation. (23801937)
2013
7
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. (24062198)
2013
8
Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management. (22672476)
2012
9
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA. (23227063)
2012
10
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. (21672014)
2012
11
Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. (22902520)
2012
12
Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) presenting as familial myelopathy. (21348794)
2011
13
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. (21506915)
2011
14
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. (21684269)
2011
15
Clear cells in the atrioventricular valves of infants with severe human mucopolysaccharidosis (Hurler syndrome) are activated valvular interstitial cells. (20619689)
2011
16
Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. (21386820)
2011
17
Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. (20852315)
2011
18
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. (20140523)
2010
19
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. (20634905)
2010
20
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. (20232353)
2010
21
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors. (20231109)
2010
22
Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination. (19116811)
2009
23
Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. (19366306)
2009
24
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. (18038146)
2008
25
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. (18796143)
2008
26
Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI. (18509743)
2008
27
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. (18613275)
2008
28
Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice. (18453006)
2008
29
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II. (17655837)
2007
30
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples. (16497940)
2006
31
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). (15604908)
2005
32
Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B). (11578848)
2001
33
Enzyme replacement therapy in feline mucopolysaccharidosis I. (11243725)
2001
34
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings. (9175798)
1997
35
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. (9375852)
1997
36
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. (8116615)
1994
37
Disappearance of lysosomal storage in spleen and liver of mucopolysaccharidosis VII mice after transplantation of genetically modified bone marrow cells. (8353294)
1993
38
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. (8265633)
1993
39
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). (1303211)
1992
40
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. (1551868)
1992
41
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. (1550122)
1992
42
Structural gene aberrations in mucopolysaccharidosis II (Hunter). (1352274)
1992
43
A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. (2105058)
1990
44
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. (2112988)
1990
45
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
46
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells. (3921950)
1985
47
Peripheral nerve involvement in Hunter syndrome (mucopolysaccharidosis II). (187158)
1976
48
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. (805826)
1975
49
Electrophoretic forms of human liver alpha-L-fucosidase and their relationship to fucosidosis (mucopolysaccharidosis F). (4215602)
1974
50
Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). (4250491)
1970

Genetic Variations for Mucopolysaccharidosis

Expression for genes affiliated with Mucopolysaccharidosis

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

Sources:
54Reactome, 30KEGG
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
10.3GNS, GALNS, GLB1
2
Hide members
10.2ARSB, ARSE, ARSH
3
Hide members
10.2HYAL2, HYAL1, GUSB
410.2IDUA, HYAL1, ARSB, IDS
5
Hide members
10.2IDS, ARSB, HYAL1, IDUA
610.2GNS, IDS, IDUA, HGSNAT
7
Hide members
10.2ARSE, ARSH, GLB1, ARSB
8
Hide members
10.0HGSNAT, SGSH, GLB1, NAGLU, GUSB, IDS
9
Hide members
10.0NAGLU, HYAL1, HYAL2, HYAL3, SGSH, ALAS2
109.9HYAL1, NAGLU, GALNS, GLB1, ARSB, HYAL2
11
Hide members
9.7GALNS, HGSNAT, LCAT, IDUA, IDS, GNS
12
Hide members
9.6HGSNAT, IDUA, IDS, SGSH, HYAL2, HYAL1
139.6SGSH, GNS, HYAL1, NAGLU, M6PR, HGSNAT
149.5SGSH, HYAL1, NAGLU, GLB1, ARSB, GUSB

Compounds for genes affiliated with Mucopolysaccharidosis

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1formylglycine4510.6ARSH, ARSB
2n-acetylgalactosamine 6-sulfate4510.6ARSH, GALNS
3p-cresol4510.6ARSH, GUSB
4glucuronic acid4510.6GALNS, ARSH, GUSB
5ether4510.6GUSB, LCAT, ARSH
6cerebroside4510.6ARSH, ARSB
7mucopolysaccharide4510.6ARSH, IDS, IDUA, ARSB
8dermatan45 2411.6IDUA, ARSB, GUSB, IDS
9chondroitin45 2411.6GLB1, GALNS, ARSB
10iduronic acid45 2411.6IDUA, IDS
11dermatan sulfate4510.5IDS, IDUA, GALNS, GUSB, ARSB
12ulinastatin4510.5GUSB, NAGLU
13n-acetylglucosamine4510.5NAGLU, ARSB, GNS
14hyaluronic acid45 2411.5HYAL1, HYAL2, GALNS, NAGLU
15chondroitin sulfate45 2411.5HYAL1, ARSH, GLB1, GALNS, ARSB
16mannose 6-phosphate45 2411.5NAGLU, GUSB, IDUA, M6PR, ARSB
17bisphenol a4510.5GUSB, ARSH
18sulfatide4510.4ARSH, GLB1
19estrone45 29 11 2413.4ARSE, ARSH, ARSB
20butyrate4510.4ALAS2, ARSH, LCAT, GUSB
21heparin45 29 11 2413.4NAGLU, LCAT, IDUA, GALNS, GUSB, ARSH
22daidzein4510.4ARSH, GUSB
23steroid4510.4GNS, IDS, ARSH, NAGLU, ARSB, ARSE
24glycosaminoglycan4510.3NAGLU, GALNS, IDUA, IDS, GUSB, ARSH
25keratan sulfate4510.3GLB1, GALNS
26cysteine4510.3ARSH, NAGLU, GALNS, IDS, LCAT, M6PR
27sulfate45 2411.3NAGLU, ARSB, IDUA, ARSE, ARSH, GUSB
28gentamicin45 1111.2IDUA, NAGLU
29heparan sulfate45 2411.2HGSNAT, M6PR, IDS, GNS, GALNS, ARSH
30calcium45 50 11 2413.1ARSE, NAGLU, SGSH, GUSB, IDS, GALNS
31lipid4510.0ARSB, ARSH, LCAT, HYAL2, M6PR, NAGLU
32arginine459.8ARSH, IDUA, M6PR, GALNS, ALAS2

GO Terms for genes affiliated with Mucopolysaccharidosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

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

Biological processes related to Mucopolysaccharidosis according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1chondroitin sulfate catabolic processGO:03020710.6HYAL1, IDS, IDUA, ARSB
2keratan sulfate catabolic processGO:04234010.5GLB1, GALNS, GNS
3cellular response to UV-BGO:07149310.5HYAL2, HYAL3, HYAL1
4chondroitin sulfate metabolic processGO:03020410.5IDS, HYAL1, ARSB, IDUA
5lysosome organizationGO:00704010.5IDUA, ARSB, NAGLU
6hyaluronan metabolic processGO:03021210.5GUSB, HYAL1, HYAL2
7glycosphingolipid metabolic processGO:00668710.5GLB1, ARSE, ARSH, ARSB
8hyaluronan catabolic processGO:03021410.5GUSB, HYAL1, HYAL2, HYAL3
9response to antibioticGO:04667710.5HYAL1, HYAL2, HYAL3
10lysosomal transportGO:00704110.5HGSNAT, ARSB
11keratan sulfate metabolic processGO:04233910.4GLB1, GALNS, GNS
12sphingolipid metabolic processGO:00666510.4ARSB, ARSH, ARSE, GLB1
13cellular response to interleukin-1GO:07134710.4HYAL1, HYAL2, HYAL3
14cellular response to tumor necrosis factorGO:07135610.4HYAL1, HYAL2, HYAL3
15skeletal system morphogenesisGO:04870510.3IDUA, HYAL2
16response to reactive oxygen speciesGO:00030210.3HYAL2, HYAL1
17cartilage developmentGO:05121610.3HYAL3, HYAL2, HYAL1
18glycosaminoglycan catabolic processGO:00602710.2SGSH, IDUA, HGSNAT, IDS, GNS, GUSB
19response to virusGO:00961510.1HYAL2, HYAL1, HYAL3
20cellular response to fibroblast growth factor stimulusGO:04434410.0HYAL2, HYAL1
21glycosaminoglycan metabolic processGO:03020310.0HYAL1, HYAL2, NAGLU, GLB1, HGSNAT, IDUA
22carbohydrate metabolic processGO:0059759.9HGSNAT, IDS, GNS, GALNS, GUSB, ARSB
23small molecule metabolic processGO:0442819.7ALAS2, GLB1, ARSB, ARSE, ARSH, GUSB

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet