CLINICAL CHARACTERISTICS: GNPTAB -related disorders comprise the phenotypes mucolipidosis II alpha/beta (ML IIα/β) and mucolipidosis III alpha/beta (ML IIIα/β), as well as phenotypes intermediate between ML IIα/β and ML IIIα/β. ML IIα/β is evident at birth and is slowly progressive....
✦ The floor
Discussion
Signed responses from readers of the wire.
GNPTAB-related disorders (including mucolipidosis II and III) are rare genetic conditions; audiologists seeing patients with unexplained progressive hearing loss alongside systemic features should be aware this genetic panel exists, though no change to routine practice is indicated by this reference update alone.
Genetic literacy is increasingly important in audiology, and GeneReviews updates on GNPTAB-related disorders help clinicians recognize rare syndromic hearing loss presentations and facilitate appropriate genetic referrals.
- 01GNPTAB-related disorders are rare inherited conditions that can include hearing loss as a key feature.
- 02The GeneReviews entry was updated in 2026 and provides current diagnostic and management guidance.
- 03Conditions include mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy).
- 04Hearing involvement is part of a broader systemic phenotype requiring multidisciplinary care.
- 05This is a reference/review resource rather than a new primary research study.
- PMID
- 20301728
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Patients with GNPTAB gene variants presenting with mucolipidosis II or III phenotypes
- Intervention
- Characterization of GNPTAB-related genetic disorder phenotypes and clinical management
Primary outcomes
Clinical characteristics and diagnostic criteria for GNPTAB-related disorders; Genotype-phenotype correlations including hearing loss severity