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 121 - 130 of 135 in total
HPO ID HPO Term
HP:0006532 Recurrent pneumonia
HP:0006610 Wide intermamillary distance
HP:0007759 Opacification of the corneal stroma
HP:0008070 Sparse hair
HP:0008155 Mucopolysacchariduria
HP:0008470 Lower thoracic interpediculate narrowness
HP:0008491 Premature anterior fontanel closure
HP:0008850 Severe postnatal growth retardation
HP:0009092 Progressive alveolar ridge hypertropy
HP:0009769 Bullet-shaped phalanges of the hand
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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Last updated: August 19, 2024