MCID: SPN138
MIFTS: 15

Spondyloepiphyseal Dysplasia Omani Type malady

Summaries for Spondyloepiphyseal Dysplasia Omani Type

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MalaCards: Spondyloepiphyseal Dysplasia Omani Type, also known as omani type of spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Spondyloepiphyseal Dysplasia Omani Type is CHST3 (carbohydrate (chondroitin 6) sulfotransferase 3), and among its related pathways are Metabolism and Disease. The compounds 3-phosphoadenosine 5-phosphosulfate and keratan sulfate have been mentioned in the context of this disorder.

Aliases & Classifications for Spondyloepiphyseal Dysplasia Omani Type

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43NIH Rare Diseases, 20GeneTests
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Aliases & Descriptions:

spondyloepiphyseal dysplasia omani type 43
omani type of spondyloepiphyseal dysplasia 43 20


Related Diseases for Spondyloepiphyseal Dysplasia Omani Type

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17GeneCards, 18GeneDecks
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Diseases related to Spondyloepiphyseal Dysplasia Omani Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia with congenital joint dislocations10.3

Clinical Features for Spondyloepiphyseal Dysplasia Omani Type

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Omani Type

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

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Genetic Tests for Spondyloepiphyseal Dysplasia Omani Type

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20GeneTests
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Genetic tests related to Spondyloepiphyseal Dysplasia Omani Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Omani Type20 CHST3

Anatomical Context for Spondyloepiphyseal Dysplasia Omani Type

Animal Models for Spondyloepiphyseal Dysplasia Omani Type or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Spondyloepiphyseal Dysplasia Omani Type

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51PubMed
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Articles related to Spondyloepiphyseal Dysplasia Omani Type:

idTitleAuthorsYear
1
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. (19320654)
2009
2
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. (18698629)
2008
3
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement. (15098240)
2004

Genetic Variations for Spondyloepiphyseal Dysplasia Omani Type

Expression for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Omani Type.

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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54Reactome, 38NCBI BioSystems Database, 53R&D Systems
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Compounds for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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45Novoseek, 24HMDB
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Compounds related to Spondyloepiphyseal Dysplasia Omani Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate459.3CHST1, CHST3
2keratan sulfate459.3CHST1, CHST3
3n-acetyllactosamine45 2410.2CHST1, CHST3
4chondroitin45 2410.2CHST1, CHST3
5n-acetylglucosamine459.1CHST3, CHST1
6sulfate45 2410.1CHST1, CHST3
7galactose459.0CHST1, CHST3
8glycosaminoglycan458.8CHST1, CHST3

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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16Gene Ontology
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Cellular components related to Spondyloepiphyseal Dysplasia Omani Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:0001399.1CHST1, CHST3

Biological processes related to Spondyloepiphyseal Dysplasia Omani Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.1CHST1, CHST3
2sulfur compound metabolic processGO:0067909.0CHST1, CHST3
3glycosaminoglycan metabolic processGO:0302038.8CHST1, CHST3

Molecular functions related to Spondyloepiphyseal Dysplasia Omani Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfotransferase activityGO:0081469.1CHST1, CHST3

Products for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia Omani Type

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