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hearing loss, autosomal recessive 119 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 119

MONDO:0030480

Also known as:DFNB119deafness, autosomal recessive 119

Overview

GeneticsAutosomal recessive · AFG2B (chr 15)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Global developmental delay, Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AFG2B encodes AAA ATPase AFG2B (753 aa). ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Highest expression in Skin Sun Exposed Lower leg (16.9 TPM) and Cells EBV-transformed lymphocytes (16.2 TPM).

Hearing loss, autosomal recessive 119 has limited evidence linking it to mutations in the AFG2B gene on chromosome 15.

AFG2B is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for AFG2B is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619615

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hearing loss, autosomal recessive 119

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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