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Table 1 Classification of mucolipidosis in humansa,b and animalsc

From: A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

Type Synonyms OMIMa Gene Enzyme/Protein deficiency Major organ impairment Animal species
Id Sialidosis 256550 NEU1 α-N-acetyl neuraminidase Skeletal & neurological Mouse [8]
II I-cell disease, ML II α/β 252500 GNPTAB N-acetylglucosamine-1-phosphotransferase, α/β Skeletal & neurological early onset, severe Zebrafishe [9, 10] Mousee [11,12,13] Cats, OMIAc 001248–9685, [14,15,16]
III Pseudo-Hurler polydystrophy, ML III α/β, ML IIIA 252600 Skeletal & neurologicallater onset, mild None
ML III γ, ML IIIC 252605 GNPTG N-acetylglucosamine-1-phosphotransferase, γ Zebrafishe [17] Mousee [13, 18]
IVd Sialolipidosis 252650 MCOLN1 Mucolipin-1 protein Ophthalmologic Caenorhabditis eleganse [19]
  1. aOnline Mendelian Inheritance in Man (OMIM), https://www.omim.org
  2. bOnline Metabolic and Molecular Bases of Inherited Disease (OMMBID), https://ommbid.mhmedical.com
  3. cOnline Mendelian Inheritance in Animal (OMIA), https://www.omia.org
  4. dHistorically grouped with mucolipidoses
  5. eGenetically engineered animal models