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
External Links
Disease Ontology
DOID:0060744
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
1836 SLC26A2 solute carrier family 26 member 2
5730 PTGDS prostaglandin D2 synthase
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024