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Metadata
ID DOID:0080070
Name mucolipidosis II alpha/beta
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.
https://en.wikipedia.org/wiki/I-cell_disease, https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta, https://pubmed.ncbi.nlm.nih.gov/16116615/, https://rarediseases.org/rare-diseases/i-cell-disease/, https://www.ncbi.nlm.nih.gov/books/NBK1828/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/
Xrefs

GARD:6749

OMIM:252500

Synonyms

I-cell disease [EXACT]

inclusion-cell disease [EXACT]

mucolipidosis II [EXACT]

mucolipidosis II alpha/beta [EXACT]

Parent Relationships

is_a mucolipidosis

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