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 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
811 CALR calreticulin
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
2990 GUSB glucuronidase beta
3425 IDUA alpha-L-iduronidase
3482 IGF2R insulin like growth factor 2 receptor
5333 PLCD1 phospholipase C delta 1
5335 PLCG1 phospholipase C gamma 1
10724 OGA O-GlcNAcase
51172 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
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 81 - 90 of 135 in total
HPO ID HPO Term
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001290 Generalized hypotonia
HP:0001319 Neonatal hypotonia
HP:0001385 Hip dysplasia
HP:0001498 Carpal bone hypoplasia
HP:0001508 Failure to thrive
HP:0001510 Growth delay
HP:0001547 Abnormal rib cage morphology
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