MCID: MRQ001
MIFTS: 28

Morquio Syndrome B malady

Summaries for Morquio Syndrome B

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33MalaCards
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MalaCards: Morquio Syndrome B, also known as mucopolysaccharidosis type ivb, is related to mucopolysaccharidosis vi and mucopolysaccharidosis iv. An important gene associated with Morquio Syndrome B is B3GAT3 (beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Disease. The compounds chondroitin and n-acetylglucosamine have been mentioned in the context of this disorder.

Aliases & Classifications for Morquio Syndrome B

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

morquio syndrome b 43
mucopolysaccharidosis type ivb 43 61
mps ivb 43
mps 4b 43


Related Diseases for Morquio Syndrome B

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Morquio Syndrome B family:

morquio syndrome c

Diseases related to Morquio Syndrome B via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis vi10.3
2mucopolysaccharidosis iv10.2
3mucopolysaccharidosis ix10.0HYAL1
4mucopolysaccharidosis10.0SGSH, HYAL1

Clinical Features for Morquio Syndrome B

Drugs & Therapeutics for Morquio Syndrome B

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Morquio Syndrome B

Anatomical Context for Morquio Syndrome B

Animal Models for Morquio Syndrome B or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Morquio Syndrome B

Sources:
51PubMed
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Articles related to Morquio Syndrome B:

idTitleAuthorsYear
1
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. (23385297)
2013
2
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. (21684269)
2011
3
Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. (17264033)
2007
4
Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. (8666648)
1996
5
Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome. (6420416)
1984
6
Morquio B syndrome: a primary defect in beta-galactosidase. (6418007)
1983
7
Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. (6224421)
1983
8
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. (6446239)
1980
9
The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies. (810613)
1975

Genetic Variations for Morquio Syndrome B

Expression for genes affiliated with Morquio Syndrome B

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Morquio Syndrome B

Search GEO for disease gene expression data for Morquio Syndrome B.

Pathways for genes affiliated with Morquio Syndrome B

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 53R&D Systems
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Pathways related to Morquio Syndrome B according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.7CHST2, CHST13, CHPF2, CHST14, CHST5, CHST7
210.7CSPG5, HAS3, KERA, CHST2, CHST13, CHPF2
3
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10.6HS3ST5, HS3ST6, NDST2, CSPG5, HAS3, KERA
4
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10.6CHST13, CHPF2, CHST14, CHST7, B3GALT6, B3GAT3
5
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10.6CSPG5, CHST2, CHST13, CHPF2, CHST14, CHST7
6
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10.6SGSH, GPC2, HS3ST5, HS3ST6, NDST2, CSPG5
7
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10.6B3GALT6, B3GNT4, B3GAT3, GPC2, HYAL1, HYAL2
8
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10.6HS3ST6, NDST2, CHST2, CHST13, CHST14, CHST5
9
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10.5KERA, CHST2, CHST5, OMD, B3GNT4
10
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10.5HS3ST5, NDST2, B3GALT6, B3GAT3
11
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10.5HYAL1, CHST14, CSPG5
1210.5HYAL1, HYAL2, SGSH
1310.5CHST7, CHST5, CHST2
14
Hide members
10.5HYAL2, HYAL1, HAS3

Compounds for genes affiliated with Morquio Syndrome B

Sources:
45Novoseek, 24HMDB
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Compounds related to Morquio Syndrome B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin45 2411.7CHST2, B3GAT3, B3GALT6, CHST7, CHST14, CHST13
2n-acetylglucosamine4510.6HAS3, CHST2, CHST5, CHST7
3sulfate45 2411.5CHST2, CHST14, CHST5, CHST7
4heparan sulfate45 2411.5SGSH, B3GAT3, B3GALT6
5glycosaminoglycan4510.4B3GAT3, HAS3, SGSH
6hyaluronic acid45 2411.2HYAL1, HYAL2, HAS3

GO Terms for genes affiliated with Morquio Syndrome B

Sources:
16Gene Ontology
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Cellular components related to Morquio Syndrome B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:00013910.8HYAL2, HS3ST5, HS3ST6, NDST2, CHST2, CHST13
2integral to membraneGO:01602110.7HS3ST5, B3GALT6, CHST13, HS3ST6, NDST2, CSPG5
3lysosomal lumenGO:04320210.7CSPG5, HYAL1, GPC2, OMD, KERA, SGSH
4Golgi lumenGO:00579610.5OMD, GPC2, CSPG5, KERA
5proteinaceous extracellular matrixGO:00557810.5KERA, OMD, GPC2
6hyaluranon cableGO:03611710.4HYAL1, HAS3
7intrinsic to Golgi membraneGO:03122810.2CHST5, CHST2

Biological processes related to Morquio Syndrome B according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:04428111.1CHST2, HYAL1, GPC2, B3GAT3, B3GNT4, B3GALT6
2glycosaminoglycan metabolic processGO:03020311.1CHST14, CHST5, CHST7, OMD, B3GNT4, B3GAT3
3carbohydrate metabolic processGO:00597511.1KERA, CHST14, CHPF2, CHST13, CHST2, HAS3
4chondroitin sulfate metabolic processGO:03020410.9CSPG5, CHST13, CHPF2, CHST14, CHST7, B3GALT6
5glycosaminoglycan biosynthetic processGO:00602410.9HS3ST5, GPC2, B3GAT3, B3GALT6, HS3ST6, NDST2
6keratan sulfate biosynthetic processGO:01814610.9B3GNT4, KERA, OMD, CHST5, CHST2
7chondroitin sulfate biosynthetic processGO:03020610.9CHST7, CHST13, B3GALT6, CSPG5, CHPF2
8keratan sulfate metabolic processGO:04233910.9CHST2, CHST5, OMD, B3GNT4, KERA
9sulfur compound metabolic processGO:00679010.8CHST7, CHST2, CHST5
10heparan sulfate proteoglycan biosynthetic processGO:01501210.8B3GAT3, B3GALT6, NDST2
11N-acetylglucosamine metabolic processGO:00604410.8CHST7, CHST2, CHST5
12hyaluronan metabolic processGO:03021210.8HYAL1, HYAL2, HAS3
13glycosaminoglycan catabolic processGO:00602710.8HYAL2, SGSH, GPC2
14positive regulation of hyaluranon cable assemblyGO:190010610.8HYAL1, HAS3
15cellular response to UV-BGO:07149310.8HYAL2, HYAL1
16protein sulfationGO:00647710.7HS3ST5, CHST5
17hyaluronan biosynthetic processGO:03021310.7HYAL1, HAS3
18response to reactive oxygen speciesGO:00030210.7HYAL1, HYAL2
19carbohydrate biosynthetic processGO:01605110.7CHST14, CHST13
20dermatan sulfate biosynthetic processGO:03020810.7CSPG5, CHST14
21keratan sulfate catabolic processGO:04234010.6KERA, OMD
22chondroitin sulfate catabolic processGO:03020710.6HYAL1, CSPG5
23hyaluronan catabolic processGO:03021410.5HYAL1, HYAL2
24cellular response to interleukin-1GO:07134710.5HYAL1, HYAL2
25cellular response to fibroblast growth factor stimulusGO:04434410.4HYAL1, HYAL2
26response to antibioticGO:04667710.2HYAL1, HYAL2

Molecular functions related to Morquio Syndrome B according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosamine 6-O-sulfotransferase activityGO:00151710.7CHST7, CHST5, CHST2
2hyaluronan synthase activityGO:05050110.6HYAL1, HAS3
3[heparan sulfate]-glucosamine 3-sulfotransferase 1 activityGO:00846710.6HS3ST5, HS3ST6
4N-acetylgalactosamine 4-O-sulfotransferase activityGO:00153710.5CHST13, CHST14
5virus receptor activityGO:00161810.5HYAL2, HYAL1
6hyalurononglucosaminidase activityGO:00441510.4HYAL2, HYAL1
7sulfotransferase activityGO:00814610.2CHST5, CHST2

Products for genes affiliated with Morquio Syndrome B

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Morquio Syndrome B

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