Details of Disease

General Information of Disease (ID: DIS22WWJ)

• Disease Name: Free sialic acid storage disease, infantile form
• Synonyms: infantile free sialic acid storage disease; N-acetylneuraminic acid storage disease; infantile sialic acid storage disease; sialuria, infantile form; Nana storage disease; infantile sialic acid storage disorder; ISSD; sialic acid storage disorder, infantile
• Disease Hierarchy:
  DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption
  DISZHA63: Lysosomal storage disease with skeletal involvement
  DISBHKLW: Free sialic acid storage disease
  DIS22WWJ: Free sialic acid storage disease, infantile form
• Disease Identifiers:
  MONDO ID: MONDO_0010027
  MESH ID: D029461
  UMLS CUI: C1096902
  OMIM ID: 269920
  MedGen ID: 203367
  Orphanet ID: 309324
  SNOMED CT ID: 34566007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNE	TT4DP5S	Strong	Biomarker	[1]
SLC17A5	TTFSUIA	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	DTWLACT	Strong	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	OTM5EC0O	Strong	Autosomal recessive	[3]

References

• [1] Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.Med Hypotheses. 2003 Jan;60(1):94-101. doi: 10.1016/s0306-9877(02)00339-0.
• [2] Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.