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Pendred syndrome | RareConnect | RareConnect.io

/syndromic disease

/autosomal recessive disease

/congenital hypothyroidism

/Pendred syndrome

Pendred syndrome

Rare Disease

MONDO:0010134

Also Known As

Pendred syndromeTDH2Bcongenital hypothyroidism due to dyshormonogenesis 2Bdeafness with goiterdeafness with goitregenetic defect in thyroid hormonogenesis 2Bgoiter-deafness syndromehypothyroidism, congenital, due to dyshormonogenesis, 2Bthyroid dyshormonogenesis 2Bthyroid hormonogenesis, genetic defect in, 2BPDSautosomal recessive sensorineural hearing impairment and goiterautosomal recessive sensorineural hearing impairment and goitre

Definition

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:274600 ↗

Orphanet

Orphanet:705 ↗

GARD

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