MCID: SPN138
MIFTS: 13

Spondyloepiphyseal Dysplasia Omani Type malady

Summaries for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
42NIH Rare Diseases, 20GeneTests
See all sources

Aliases & Descriptions:

spondyloepiphyseal dysplasia omani type 42
omani type of spondyloepiphyseal dysplasia 42 20


Related Diseases for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Spondyloepiphyseal Dysplasia Omani Type

Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia Omani Type

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Omani Type

Search CenterWatch for Spondyloepiphyseal Dysplasia Omani Type

Genetic Tests for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
20GeneTests
See all sources

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

About this section

Animal Models for Spondyloepiphyseal Dysplasia Omani Type or affiliated genes

About this section

Publications for Spondyloepiphyseal Dysplasia Omani Type

About this section

Genetic Variations for Spondyloepiphyseal Dysplasia Omani Type

About this section

Expression for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 52R&D Systems
See all sources

Compounds for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Spondyloepiphyseal Dysplasia Omani Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate449.3CHST1, CHST3
2keratan sulfate449.3CHST1, CHST3
3n-acetyllactosamine44 2410.2CHST1, CHST3
4chondroitin44 2410.2CHST1, CHST3
5n-acetylglucosamine449.1CHST3, CHST1
6sulfate44 2410.1CHST1, CHST3
7galactose449.0CHST1, CHST3
8glycosaminoglycan448.8CHST1, CHST3

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia Omani Type

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet