Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
EAST syndrome
Summary
- Synonym
-
- SeSAME syndrome
- epilepsy, ataxia, sensorineural deafness and tubulopathy
- seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
- Definition
- A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060484
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBF8 | Phosphatidylinositol 4-kinase beta |
