Details of Disease

Disease Name

Salla disease

sialuria, Finnish type; SD; Salla disease; sialic acid storage disease

Definition

Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.

Disease Hierarchy

DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption

DISBHKLW: Free sialic acid storage disease

DISA4PBW: Salla disease

Disease Identifiers

MONDO ID

MONDO_0011449

MESH ID

D029461

UMLS CUI

C1096903

OMIM ID

604369

MedGen ID

203368

Orphanet ID

309334

SNOMED CT ID

87074006

General Information of Disease (ID: DISA4PBW)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNE	TT4DP5S	Strong	Genetic Variation	[1]
KDM5A	TTIG67W	Strong	Altered Expression	[2]
RENBP	TTZCG0Q	Strong	Genetic Variation	[3]
SGCB	TTEDCQ0	Strong	Genetic Variation	[4]
SLC17A5	TTFSUIA	Strong	Genetic Variation	[5]
TAF2	TTHMP8B	Strong	Biomarker	[6]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	DTWLACT	Definitive	Autosomal recessive	[7]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCGF2	OTIY1J5L	moderate	Biomarker	[8]
EFL1	OTMEXJZA	Strong	Altered Expression	[9]
MATN1	OTBRTCTQ	Strong	Biomarker	[10]
SLC17A5	OTM5EC0O	Definitive	Autosomal recessive	[7]
------------------------------------------------------------------------------------

References

1	Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.Chembiochem. 2017 Jul 4;18(13):1188-1193. doi: 10.1002/cbic.201600580. Epub 2017 Jan 16.
2	Role of RBP2-Induced ER and IGF1R-ErbB Signaling in Tamoxifen Resistance in Breast Cancer.J Natl Cancer Inst. 2018 Apr 1;110(4). doi: 10.1093/jnci/djx207.
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	Contribution of the PI3K/MMPs/Ln-52 and EphA2/FAK/Paxillin signaling pathways to tumor growth and vasculogenic mimicry of gallbladder carcinomas.Int J Oncol. 2013 Jun;42(6):2103-15. doi: 10.3892/ijo.2013.1897. Epub 2013 Apr 15.
5	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.
6	Polar Quassinoids in Standardized Eurycoma longifolia Extract Formulated into a Lipid-Based Solid Dispersion to Improve Rat Sperm Count.Phytother Res. 2017 Dec;31(12):1875-1882. doi: 10.1002/ptr.5930. Epub 2017 Sep 26.
7	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.
8	Role of MEL-18 Amplification in Anti-HER2 Therapy of Breast Cancer.J Natl Cancer Inst. 2019 Jun 1;111(6):609-619. doi: 10.1093/jnci/djy151.
9	Arabidopsis ELF4-like proteins EFL1 and EFL3 influence flowering time.Gene. 2019 Jun 5;700:131-138. doi: 10.1016/j.gene.2019.03.047. Epub 2019 Mar 24.
10	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.