Preferred Label : Pendred syndrome;
Symbol : PDS;
CISMeF acronym : PDS; TDH2B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Deafness with goiter; Goiter-deafness syndrome; Thyroid dyshormonogenesis 2b; Hypothyroidism, congenital, due to dyshormonogenesis, 2b; Thyroid hormonogenesis, genetic defect in, 2b; TDH2B;
Description : Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive
disorder associated with developmental abnormalities of the cochlea, sensorineural
hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997). For
a general phenotypic description and a discussion of genetic heterogeneity of thyroid
dyshormonogenesis, see TDH1 (274400).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 26, member 4 gene (SLC26A4, 605646.0001);
Laboratory abnormalities : Thyroid hormone organification defect;
Prefixed ID : #274600;
Origin ID : 274600;
UMLS CUI : C0271829;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)