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Disease Mucolipidoses

Name Mucolipidoses
Synonyms Cherry Red Spot Myoclonus Syndrome | Cherry Red Spot-Myoclonus Syndrome | Deficiencies, Glycoprotein Neuraminidase | Deficiency Disease, Ganglioside Sialidase | Deficiency, Glycoprotein Neuraminidase | Ganglioside Sialidase Deficiency Disease | Glycoprotein Neuraminidase Deficiencies | Glycoprotein Neuraminidase Deficiency | I Cell Disease | I-Cell Disease | I-Cell Diseases | Inclusion Cell Disease | Inclusion Cell Diseases | Lipomucopolysaccharidoses | Lipomucopolysaccharidosis | ML4 | ML IV | Mucolipidoses, Type I | Mucolipidoses, Type II | Mucolipidoses, Type III | Mucolipidoses, Type IV | Mucolipidosis | Mucolipidosis I | Mucolipidosis II | Mucolipidosis III | Mucolipidosis IIIa | Mucolipidosis III Alpha Beta | Mucolipidosis IV | Mucolipidosis Type 1 | Mucolipidosis Type I | Mucolipidosis, Type I | Mucolipidosis Type II | Mucolipidosis, Type II | Mucolipidosis Type III | Mucolipidosis, Type III | Mucolipidosis Type IV | Mucolipidosis, Type IV | Myoclonus Cherry Red Spot Syndrome | Myoclonus-Cherry Red Spot Syndrome | Polydystrophy, Pseudo-Hurler | Pseudo Hurler Polydystrophy | Pseudo-Hurler Polydystrophy | Psuedo Hurler Disease | Psuedo-Hurler Disease | Psuedo-Hurler Diseases | Sialidoses | Sialidosis | Sialolipidoses | Sialolipidosis | Type III Mucolipidoses | Type III Mucolipidosis | Type II Mucolipidoses | Type II Mucolipidosis | Type I Mucolipidoses | Type I Mucolipidosis | Type IV Mucolipidoses | Type IV Mucolipidosis
Definition A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Categories Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease | Nervous system disease
MeSH® ID D009081
OMIM® ID 252650
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Metabolic Has associated chemicals Has associated genes Has associated exposure references Mucolipidoses Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Mucolipidoses Has associated chemicals Has associated genes

Top ↑ Descendants

Mucolipidoses Has associated chemicals Has associated genes
  Microvillus inclusion disease Has associated chemicals Has associated genes
View node Mucolipidosis 2 Has associated chemicals Has associated genes
  Mucolipidosis II Alpha Beta
  Mucolipidosis III Alpha Beta, Atypical
  Mucolipidosis III Gamma Has associated chemicals Has associated genes
View node Mucolipidosis type 3 A Has associated chemicals Has associated genes
  Nephrosialidosis
  Neuraminidase 1 deficiency Has associated chemicals Has associated genes