Defective SLC26A4 causes Pendred syndrome (PDS)

Stable Identifier
R-HSA-5619046
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective SLC26A4 causes Pendred syndrome (PDS)
Click the image above or here to open this pathway in the Pathway Browser
Solute carrier (SLC) genes that code chloride (Cl-)/bicarbonate (HCO3-) exchanger proteins are in the SLC4 and SLC26 families. SLC26A4 (pendrin) is thought to act as a chloride/anion exchanger but in the thyroid and inner ear, it also contributes to the conditioning of the endolymphatic fluid by mediating iodide (I-) transport. Defects in SLC26A4 can cause Pendred syndrome (PDS; MIM:274600), an autosomal recessive disorder characterised by congenital sensorineural hearing loss in association with thyroid goiter (Choi et al. 2011, Pesce & Kopp 2014).
Literature References
PubMed ID Title Journal Year
21358184 Hereditary hearing loss with thyroid abnormalities

Alper, SL, King, KA, Muskett, J, Choi, BY, Griffith, AJ, Shawker, T, Butman, JA, Reynolds, JC, Zalewski, CK, Stewart, AK, Brewer, CC

Adv. Otorhinolaryngol. 2011
25009573 Iodide transport: implications for health and disease

Kopp, P, Pesce, L

Int J Pediatr Endocrinol 2014
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
goiter DOID:12176
sensorineural hearing loss DOID:10003 Perceptive hearing loss, Perceptive deafness [diagnos], Perceptive hearing loss or deafness, high-frequency hearing loss, central hearing loss, sensorineural hearing loss, Sensorineural Deafness, High frequency deafness, Sensory hearing loss, High Frequency Hearing Loss
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
Cite Us!