MCID: SLR001
MIFTS: 44

Sialuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Sialuria

MalaCards integrated aliases for Sialuria:

Name: Sialuria 53 12 23 49 24 55 71 71 36 28 13 14 69
Sialuria, French Type 53 72 49 24 55 69
Sialic Acid Storage Disease, Finnish Type 69
Infantile Sialic Acid Storage Disease 69
Sialic Acid Storage Disease 41
French Type Sialuria 24
Sialuria French Type 71

Characteristics:

Orphanet epidemiological data:

55
sialuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
sialuria:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance cannot be estimated clinically as the findings in this disorder are nonspecific and variable between affected persons, as well as transient and limited to early childhood. moreover, the intellectual disability inconsistently associated with sialuria is neither progressive nor significant...

Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Sialuria

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3166Disease definitionSialuria 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.Visit the Orphanet disease page for more resources. Last updated: 2/29/2012

MalaCards based summary : Sialuria, also known as sialuria, french type, is related to free sialic acid storage disorders and salla disease, and has symptoms including seizures, hepatosplenomegaly and hypertelorism. An important gene associated with Sialuria is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways/superpathways are Lysosome and Amino sugar and nucleotide sugar metabolism. Affiliated tissues include liver, skin and eye.

Disease Ontology : 12 A lysosomal storage disease characterized by increased sialic acid in the urine.

Genetics Home Reference : 24 Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat flat face and distinctive-looking facial features that are described as "coarse." Temporarily delayed development and weak muscle tone (hypotonia) have also been reported.

OMIM : 53 Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001). (269921)

UniProtKB/Swiss-Prot : 71 Sialuria: In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.

Wikipedia : 72 Sialuria is a condition where there is increased sialic acid in the... more...

GeneReviews: NBK1164

Related Diseases for Sialuria

Diseases related to Sialuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 free sialic acid storage disorders 31.1 GNE SLC17A5
2 salla disease 11.8
3 neuraminidase deficiency 11.2
4 infantile sialic acid storage disease 11.0
5 infantile free sialic acid storage disease 10.9
6 costello syndrome 9.9
7 glycoproteinosis 9.5 NEU1 SLC17A5

Graphical network of the top 20 diseases related to Sialuria:



Diseases related to Sialuria

Symptoms & Phenotypes for Sialuria

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
developmental delay
attention deficit disorder

Head And Neck Ears:
low-set ears

Respiratory:
sleep apnea

Abdomen Spleen:
splenomegaly

Skin Nails Hair Hair:
generalized hirsutism
low posterior hairline

Skeletal Feet:
2-3 toe syndactyly
large halluces

Head And Neck Nose:
broad nasal bridge
high-arched palate
thin upper lip

Genitourinary External Genitalia Male:
inguinal hernias

Laboratory Abnormalities:
elevated urinary free sialic acid (n-acetylneuraminic acid)
elevated fibroblast free sialic acid

Head And Neck Eyes:
hypertelorism
periorbital fullness
synophrys
epicanthal folds

Skeletal Spine:
scoliosis

Head And Neck Face:
coarse facial features
prominent forehead
long, smooth philtrum

Abdomen Liver:
hepatomegaly

Chest Breasts:
hypoplastic nipples

Abdomen External Features:
protuberant abdomen

Growth Other:
normal growth

Chest External Features:
small chest


Clinical features from OMIM:

269921

Human phenotypes related to Sialuria:

55 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 hepatosplenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001433
3 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
5 sleep apnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0010535
6 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
7 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
10 smooth philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000319
11 intellectual disability, mild 55 31 hallmark (90%) Very frequent (99-80%) HP:0001256
12 dysostosis multiplex 55 31 hallmark (90%) Very frequent (99-80%) HP:0000943
13 prominent forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0011220
14 abnormality of metabolism/homeostasis 55 31 Very frequent (99-80%) HP:0001939
15 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
16 periorbital fullness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000629
17 attention deficit hyperactivity disorder 55 31 hallmark (90%) Very frequent (99-80%) HP:0007018
18 high, narrow palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002705
19 elevated hepatic transaminases 55 31 hallmark (90%) Very frequent (99-80%) HP:0002910
20 cholelithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001081
21 memory impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002354
22 joint hypermobility 55 31 hallmark (90%) Very frequent (99-80%) HP:0001382
23 thin upper lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000219
24 episodic abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002574
25 hoarse voice 55 31 hallmark (90%) Very frequent (99-80%) HP:0001609
26 upper airway obstruction 55 31 hallmark (90%) Very frequent (99-80%) HP:0002781
27 long hallux 55 31 hallmark (90%) Very frequent (99-80%) HP:0001847
28 generalized hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001290
29 expressive language delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0002474
30 hyperkinesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002487
31 prolonged partial thromboplastin time 55 31 hallmark (90%) Very frequent (99-80%) HP:0003645
32 2-3 toe syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0004691
33 prolonged prothrombin time 55 31 hallmark (90%) Very frequent (99-80%) HP:0008151
34 spinal deformities 55 31 hallmark (90%) Very frequent (99-80%) HP:0008443
35 abnormality of the mitochondrion 55 31 hallmark (90%) Very frequent (99-80%) HP:0012103
36 frontal bossing 31 HP:0002007
37 high palate 31 HP:0000218
38 scoliosis 31 HP:0002650
39 inguinal hernia 31 HP:0000023
40 splenomegaly 31 HP:0001744
41 abnormal facial shape 55 Very frequent (99-80%)
42 long philtrum 31 HP:0000343
43 generalized hirsutism 31 HP:0002230
44 low posterior hairline 31 HP:0002162
45 synophrys 31 HP:0000664
46 hypoplastic nipples 31 HP:0002557
47 thoracic hypoplasia 31 HP:0005257
48 protuberant abdomen 31 HP:0001538

UMLS symptoms related to Sialuria:


seizures, muscle spasticity, athetosis, ataxia

Drugs & Therapeutics for Sialuria

Search Clinical Trials , NIH Clinical Center for Sialuria

Cochrane evidence based reviews: sialic acid storage disease

Genetic Tests for Sialuria

Genetic tests related to Sialuria:

# Genetic test Affiliating Genes
1 Sialuria 28 GNE

Anatomical Context for Sialuria

MalaCards organs/tissues related to Sialuria:

38
Liver, Skin, Eye, Spleen

Publications for Sialuria

Articles related to Sialuria:

(show all 49)
# Title Authors Year
1
Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria. ( 27966821 )
2016
2
New observation of sialuria prompts detection of liver tumor in previously reported patient. ( 27142465 )
2016
3
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. ( 23900835 )
2014
4
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. ( 19917666 )
2010
5
Free sialic acid storage disease without sialuria. ( 19557856 )
2009
6
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. ( 18653764 )
2008
7
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. ( 17706199 )
2007
8
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. ( 16769205 )
2006
9
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland. ( 12709150 )
2003
10
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. ( 12637289 )
2003
11
Infantile sialic acid storage disease and protein-losing gastroenteropathy. ( 12849889 )
2003
12
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
13
Clinical course and biochemistry of sialuria. ( 11486897 )
2001
14
Dominant inheritance of sialuria, an inborn error of feedback inhibition. ( 11326336 )
2001
15
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. ( 10356312 )
1999
16
Infantile sialic acid storage disease: report of the first case in South America. ( 10422814 )
1999
17
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. ( 10330343 )
1999
18
Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease. ( 9685606 )
1998
19
Infantile sialic acid storage disease diagnosed by gas chromatography-mass spectroscopy analyses of urine sample. ( 9323580 )
1997
20
A Japanese case of infantile sialic acid storage disease. ( 8733911 )
1996
21
Infantile sialic acid storage disease: biochemical studies. ( 7573152 )
1995
22
Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. ( 8597831 )
1995
23
Clinical and biochemical studies in an American child with sialuria. ( 8439453 )
1993
24
Report on two patients with Costello syndrome and sialuria. ( 8291534 )
1993
25
Sialuria ( 20301343 )
1993
26
Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings. ( 7992007 )
1993
27
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease. ( 1583876 )
1992
28
Sialic acid metabolism in sialuria fibroblasts. ( 2019577 )
1991
29
Sialuria: a follow-up report. ( 1779656 )
1991
30
Nephrosis in two siblings with infantile sialic acid storage disease. ( 2347341 )
1990
31
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. ( 2553307 )
1989
32
Identification of the metabolic defect in sialuria. ( 2808337 )
1989
33
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. ( 2502674 )
1989
34
Infantile sialic acid storage disease in two siblings. ( 3141716 )
1988
35
Infantile sialic acid storage disease associated with renal disease. ( 3072006 )
1988
36
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts. ( 3106716 )
1987
37
Infantile free sialuria without lysosomal storage. ( 3508047 )
1987
38
Sialuria: a second case. ( 2443758 )
1987
39
Detection of sialuria by cation-exchange high-performance liquid chromatography. ( 3760081 )
1986
40
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts. ( 2942833 )
1986
41
Infantile type of sialic acid storage disease with sialuria. ( 3742847 )
1986
42
Prenatal diagnosis and confirmation of infantile sialic acid storage disease. ( 3809113 )
1986
43
Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria. ( 3921284 )
1985
44
Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts. ( 4000771 )
1985
45
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. ( 4032465 )
1985
46
A thin layer chromatographic technique for screening for sialuria. ( 6851155 )
1983
47
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. ( 6889058 )
1983
48
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. ( 444571 )
1979
49
Isolation and identification of 2-deoxy-2,3-dehydro-N-acetylneuraminic acid from the urine of a patient with sialuria. ( 1175622 )
1975

Variations for Sialuria

UniProtKB/Swiss-Prot genetic disease variations for Sialuria:

71
# Symbol AA change Variation ID SNP ID
1 GNE p.Arg263Leu VAR_017950 rs121908623
2 GNE p.Arg266Gln VAR_017951 rs121908622
3 GNE p.Arg266Trp VAR_017952 rs121908621

ClinVar genetic disease variations for Sialuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
2 GNE NM_005476.5(GNE): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs121908621 GRCh37 Chromosome 9, 36234103: 36234103
3 GNE NM_005476.5(GNE): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908622 GRCh37 Chromosome 9, 36234102: 36234102
4 GNE NM_005476.5(GNE): c.788G> T (p.Arg263Leu) single nucleotide variant Pathogenic rs121908623 GRCh37 Chromosome 9, 36234111: 36234111
5 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
6 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
7 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
8 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221

Expression for Sialuria

Search GEO for disease gene expression data for Sialuria.

Pathways for Sialuria

Pathways related to Sialuria according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Sialuria

Biological processes related to Sialuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.26 NEU1 SLC35A1
2 cellular protein modification process GO:0006464 9.16 SLC35A1 ST3GAL6
3 hydrogen ion transmembrane transport GO:1902600 8.96 SLC17A5 SLC35A1
4 proton transport GO:0015992 8.62 SLC17A5 SLC35A1

Molecular functions related to Sialuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sugar:proton symporter activity GO:0005351 8.62 SLC17A5 SLC35A1

Sources for Sialuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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