Pendred syndrome

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;

Details

Origin ID

274600;

UMLS CUI

C0271829;

Automatic exact mappings (from CISMeF team)
- After-Hours care [MeSH Descriptor]
- Dyshormogenetic goiter [ICD-10 Sub-category]
- Dyshormogenetic goitre [ICD-10 Sub-category (who)]
- PTGDS wt Allele [NCIt concept]
- Palladium [NCIt concept]
- Patent arterial duct [ICD-11 Subcategory]
- Pendred syndrome [MedDRA Preferred Term]
- Possible diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Primary Debulking Surgery [NCIt concept]
- Skin Undifferentiated Pleomorphic Sarcoma [NCIt concept]
- pharmacology [MeSH Descriptor]
- proteodermatan sulfate [MeSH Supplementary Concept]
- solute carrier family 26 member 4 [ORDO Gene]
- solute carrier family 26 member 4 [HGNC gene]
Currated CISMeF NLP mapping
- Pendred Syndrome [DO Concept]
- Pendred Syndrome [NCIt concept]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [Disease (Nov.)]
- Pendred syndrome [ICD-11 Sub-sub category]
- Pendred syndrome [MeSH concept]
- Pendred syndrome [ORDO Disease]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred syndrome [MeSH Supplementary Concept]
- pendred's syndrome [SNOMED Notion]
DO Cross reference
- Pendred Syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 26, member 4 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cochlear malformation [HPO term]
- Compensated hypothyroidism [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Goiter [HPO term]
- Intellectual disability [HPO term]
- Thyroid carcinoma [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Pendred syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pendred Syndrome [DO Concept]
- Pendred Syndrome [NCIt concept]
- Pendred syndrome [ORDO Disease]
- Pendred syndrome [MeSH concept]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [Disease (Nov.)]
- Pendred syndrome [ICD-11 Sub-sub category]
- Pendred syndrome [MedDRA Preferred Term]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred syndrome [MeSH Supplementary Concept]
- pendred's syndrome [SNOMED Notion]

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