GNPTAB-mucolipidosis
Findings
No curated finding names GNPTAB-mucolipidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.
Definition from the Mondo Disease Ontology (MONDO:0100122), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- GNPTABHGNC:29670
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: GNPTAB-mucolipidosis
- Also called
- GNPTAB-related disorderUDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency