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Disease Sialic Acid Storage Disease

Name Sialic Acid Storage Disease
Synonyms Finnish Type Sialuria | Finnish Type Sialurias | French Type Sialuria | Infantile Form Sialuria | Infantile Form Sialurias | Infantile Sialic Acid Storage Disease | Infantile Sialic Acid Storage Disorder | Infantile Sialic Acid Storage Disorder (ISSD) | ISSD | N-ACETYLNEURAMINIC ACID STORAGE DISEASE | NANA STORAGE DISEASE | NSD | Salla Disease | SD | Sialic Acid Storage Disease, Finnish Type | Sialic Acid Storage Disease, Infantile Form | Sialuria | Sialuria, Finnish Type | SIALURIA, FRENCH TYPE | Sialuria, Infantile Form | Sialurias | Sialurias, Finnish Type | Sialurias, Infantile Form
Definition Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D029461
OMIM® IDs 269920 | 269921 | 604369
External Links
DO
DOID:3659

Top ↑ Ancestors

1. Diseases ← Nervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Central Nervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Brain Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Brain Diseases, Metabolic Has associated chemicals Has associated genes Has associated phenotype references ← Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Has associated phenotype references ← Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Has associated phenotype references ← Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references
2. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Has associated phenotype references ← Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Has associated phenotype references ← Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references
3. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Lysosomal Storage Diseases Has associated chemicals Has associated genes Has associated phenotype references ← Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Has associated phenotype references ← Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references
4. Diseases ← Nutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Brain Diseases, Metabolic Has associated chemicals Has associated genes Has associated phenotype references ← Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Has associated phenotype references ← Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Has associated phenotype references ← Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references
5. Diseases ← Nutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Has associated phenotype references ← Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Has associated phenotype references ← Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references
6. Diseases ← Nutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Lysosomal Storage Diseases Has associated chemicals Has associated genes Has associated phenotype references ← Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Has associated phenotype references ← Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references

Top ↑ Descendants

Sialic Acid Storage Disease Has associated chemicals Has associated genes Has associated phenotype references
  Free sialic acid storage disease
  N-Acetylneuraminic acid storage disease
  Sialuria, French type