U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Autosomal recessive nonsyndromic hearing loss 4

Autosomal recessive nonsyndromic hearing loss 4

Synonyms
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Deafness, autosomal recessive 4; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Enlarged vestibular aqueduct, digenic; FOXI1-Related Pendred Syndrome; KCNJ10-Related Pendred Syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; Nonsyndromic enlarged vestibular aqueduct (NSEVA)

Summary

Excerpted from the GeneReview: Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Richard JH Smith
Yoichiro Iwasa
Amanda M Schaefer
view full author information

Available tests

81 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (81 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, FOXI1
    Summary: forkhead box I1

  • Also known as: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, KCNJ10
    Summary: potassium inwardly rectifying channel subfamily J member 10

  • Also known as: DFNB4, EVA, PDS, TDH2B, SLC26A4
    Summary: solute carrier family 26 member 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.