Details of Disease

General Information of Disease (ID: DISBFVOW)

Disease Name GNPTAB-mucolipidosis
Synonyms GNPTAB-related disorder; UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
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 III/), and phenotypes intermediate between ML II and ML III/.
Disease Hierarchy
DISOZ8DI: Mucolipidosis
DISBFVOW: GNPTAB-mucolipidosis

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNPTAB OT2Z03OB Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.