Details of Disease

General Information of Disease (ID: DISK9T5J)

• Disease Name: Sialuria
• Synonyms: sialuria, French type; sialuria
• Definition: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
• Disease Hierarchy:
  DIS62UO1: Disorder of sialic acid metabolism
  DISBHKLW: Free sialic acid storage disease
  DISK9T5J: Sialuria
• Disease Identifiers:
  MONDO ID: MONDO_0010028
  MESH ID: D029461
  UMLS CUI: C0342853
  OMIM ID: 269921
  MedGen ID: 137980
  Orphanet ID: 3166
  SNOMED CT ID: 238051008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNE	TT4DP5S	Strong	Autosomal dominant	[1]
GNE	TT4DP5S	Strong	Genetic Variation	[2]
RENBP	TTZCG0Q	Strong	Genetic Variation	[3]
SLC17A5	TTFSUIA	Strong	Genetic Variation	[4]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLTA	OTLHOXMQ	Strong	Genetic Variation	[2]
GNE	OTNONPMB	Strong	Autosomal dominant	[1]
MATN1	OTBRTCTQ	Strong	Biomarker	[5]

References

• [1] 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.
• [2] Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.J Hum Genet. 2017 Feb;62(2):159-166. doi: 10.1038/jhg.2016.134. Epub 2016 Nov 10.
• [3] Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.Glycobiology. 2010 Mar;20(3):322-37. doi: 10.1093/glycob/cwp176. Epub 2009 Nov 16.
• [4] Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.BMC Med Genomics. 2019 Nov 6;12(1):156. doi: 10.1186/s12920-019-0606-4.
• [5] Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.Biol Chem. 2009 Jul;390(7):591-9. doi: 10.1515/BC.2009.073.