mucolipidosis III alpha/beta

Summary
Synonym
  • mucolipidosis III
  • pseudo-Hurler polydystrophy
Definition
A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
Super Class
autosomal recessive disease mucolipidosis
External Links
Disease Ontology
DOID:0080071
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
10724 OGA O-GlcNAcase
51172 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
Displaying 1 entry
Gene ID Gene Symbol Description Source
432486 Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Displaying 1 entry
Gene ID Gene Symbol Description Source
553365 gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
The Human Phenotype Ontology
Displaying entries 1 - 10 of 70 in total
HPO ID HPO Term
HP:0001609 Hoarse voice
HP:0010471 Oligosacchariduria
HP:0000470 Short neck
HP:0002751 Kyphoscoliosis
HP:0000293 Full cheeks
HP:0001667 Right ventricular hypertrophy
HP:0005280 Depressed nasal bridge
HP:0001371 Flexion contracture
HP:0000280 Coarse facial features
HP:0002505 Loss of ambulation
Displaying 1 entry
Gene ID Gene Symbol Description
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

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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: August 19, 2024