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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),
  2. bOnline Metabolic and Molecular Bases of Inherited Disease (OMMBID),
  3. cOnline Mendelian Inheritance in Animal (OMIA),
  4. dHistorically grouped with mucolipidoses
  5. eGenetically engineered animal models