Details of Disease

General Information of Disease (ID: DISBHKLW)

• Disease Name: Free sialic acid storage disease
• Synonyms: free sialic acid storage disease
• Definition: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).
• Disease Hierarchy:
  DISHPBPC: Inborn disorder of lysosomal amino acid transport
  DISBHKLW: Free sialic acid storage disease
• Disease Identifiers:
  MONDO ID: MONDO_0019366
  MESH ID: C538523
  UMLS CUI: C2931872
  MedGen ID: 419512
  Orphanet ID: 834

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	TTFSUIA	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	DTWLACT	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	OTM5EC0O	Definitive	Autosomal recessive	[2]

References

• [1] A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.Genet Med. 2019 Feb;21(2):347-352. doi: 10.1038/s41436-018-0051-3. Epub 2018 Jun 6.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.