mucolipidosis III gamma

Summary
Definition
A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay.
Super Class
autosomal recessive disease mucolipidosis
Disease Ontology
DOID:0080678
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
Displaying 1 entry
Gene ID Gene Symbol Description Source
214505 Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 in total
HPO ID HPO Term
HP:0002857 Genu valgum
HP:0001256 Intellectual disability, mild
HP:0007759 Opacification of the corneal stroma
HP:0000545 Myopia
HP:0003370 Flat capital femoral epiphysis
HP:0001763 Pes planus
HP:0000280 Coarse facial features
HP:0003307 Hyperlordosis
HP:0001650 Aortic valve stenosis
HP:0003621 Juvenile onset
Displaying 1 entry
Gene ID Gene Symbol Description
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024