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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Pendred Syndrome
Summary
- Synonym
-
- TDH2B
- congenital hypothyroidism due to dyshormonogenesis 2B
- deafness with goiter
- genetic defect in thyroid hormonogenesis 2B
- goiter-deafness syndrome
- thyroid dyshormonogenesis 2B
- Definition
- A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
- Super Class
- autosomal recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P41222 | Prostaglandin-H2 D-isomerase | |
| P49419 | Alpha-aminoadipic semialdehyde dehydrogenase | |
| P50443 | Sulfate transporter |
