mucolipidosis II alpha/beta

Summary
Synonym
  • I-cell disease
  • inclusion-cell disease
  • mucolipidosis II
Definition
A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
Super Class
mucolipidosis
External Links
Disease Ontology
DOID:0080070
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
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 21 - 30 of 135 in total
HPO ID HPO Term
HP:0001638 Cardiomyopathy
HP:0001646 Abnormal aortic valve morphology
HP:0001653 Mitral regurgitation
HP:0001655 Patent foramen ovale
HP:0001659 Aortic regurgitation
HP:0001712 Left ventricular hypertrophy
HP:0001744 Splenomegaly
HP:0001762 Talipes equinovarus
HP:0001824 Weight loss
HP:0002091 Restrictive ventilatory defect
Displaying 1 entry
Gene ID Gene Symbol Description
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

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Acknowledgements

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


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Last updated: August 19, 2024