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 | Ī±-N-acetyl neuraminidase | Skeletal & neurological | Mouse [8] |
II | I-cell disease, ML II Ī±/Ī² | 252500 | GNPTAB | N-acetylglucosamine-1-phosphotransferase, Ī±/Ī² | Skeletal & neurological early onset, severe | Zebrafishe [9, 10] Mousee [11,12,13] Cats, OMIAc 001248ā9685, [14,15,16] |
III | Pseudo-Hurler polydystrophy, ML III Ī±/Ī², ML IIIA | 252600 | Skeletal & neurologicallater onset, mild | None | ||
ML III Ī³, ML IIIC | 252605 | GNPTG | N-acetylglucosamine-1-phosphotransferase, Ī³ | |||
IVd | Sialolipidosis | 252650 | MCOLN1 | Mucolipin-1 protein | Ophthalmologic | Caenorhabditis eleganse [19] |