Pendred Syndrome (PDS)

Alias:

Goiter-Deafness Syndrome

Deafness with Goiter

Thyroid Dyshormonogenesis 2b

Tdh2b

Goiter-Hearing Loss Syndrome

Pendred's Syndrome

Pds

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter

Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2b

Congenital Hypothyroidism Due to Dyshormonogenesis 2b

Thyroid Hormonogenesis, Genetic Defect in, 2b

Genetic Defect in Thyroid Hormonogenesis 2b

Goitre-Deafness Syndrome

Goitre Deafness

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pendred Syndrome, also known as goiter-deafness syndrome, is related to congenital hypothyroidism and goiter. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Disorders of transmembrane transporters and Thyroxine (thyroid hormone) production. Affiliated tissues include thyroid and testis, and related phenotypes are sensorineural hearing impairment and abnormality of the inner ear

Related ID：

MALACARDS：PND002

OMIM：274600

MESH：C536648

ICD11：1156056623