Pendred syndrome
Findings
No curated finding names Pendred syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Definition from the Mondo Disease Ontology (MONDO:0010134), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- GoiterHPOHP:0000853
- 14 of 15 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the inner earHPOHP:0000359
- Very frequent (80% to 99% of cases)
- Enlarged vestibular aqueductHPOHP:0011387
- Very frequent (80% to 99% of cases)
- Hypoplasia of the cochleaHPOHP:0008586
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- 11 of 14 reported patients
Show the remaining 4
- Respiratory insufficiencyHPOHP:0002093
- Occasional (5% to 29% of cases)
- Thyroid carcinomaHPOHP:0002890
- Occasional (5% to 29% of cases)
- Tracheal stenosisHPOHP:0002777
- Occasional (5% to 29% of cases)
- VertigoHPOHP:0002321
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC26A4HGNC:8818
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- FOXI1HGNC:3815
- Supportive · Orphanet · Autosomal recessive · 2021
- KCNJ10HGNC:6256
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Pendred syndrome
- Also called
- deafness with goiterdeafness with goitregoiter-deafness syndromehypothyroidism, congenital, due to dyshormonogenesis, 2BTDH2Bthyroid dyshormonogenesis 2Bthyroid hormonogenesis, genetic defect in, 2B