MCID: SLR001
MIFTS: 44

Sialuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Sialuria

MalaCards integrated aliases for Sialuria:

Name: Sialuria 54 12 23 50 24 25 56 71 71 29 13 14 69
Sialuria, French Type 50 25 56 69
French Type Sialuria 24 25
Sialic Acid Storage Disease, Finnish Type 69
Infantile Sialic Acid Storage Disease 69
Sialic Acid Storage Disease 42
Sialuria French Type 71

Characteristics:

Orphanet epidemiological data:

56
sialuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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: 56  
Inborn errors of metabolism


Summaries for Sialuria

NIH Rare Diseases : 50 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 salla disease and sialidosis, type i, and has symptoms including hepatomegaly, seizures and low-set ears. An important gene associated with Sialuria is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include liver, skin and spleen.

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.

Genetics Home Reference : 25 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 : 54
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)

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

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:

id Related Disease Score Top Affiliating Genes
1 salla disease 11.7
2 sialidosis, type i 11.1
3 free sialic acid storage disorders 10.8
4 infantile free sialic acid storage disease 10.8
5 costello syndrome 9.8
6 bone angioendothelial sarcoma 9.7 NEU1 SLC17A5
7 gars-associated axonal neuropathy 9.5 GNE SLC17A5
8 nonaka myopathy 7.8 GNE NEU1 SLC17A5 SLC35A1 ST3GAL6

Graphical network of the top 20 diseases related to Sialuria:



Diseases related to Sialuria

Symptoms & Phenotypes for Sialuria

Symptoms via clinical synopsis from OMIM:

54

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

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

Abdomen- Spleen:
splenomegaly

Head And Neck- Eyes:
epicanthal folds
hypertelorism
periorbital fullness
synophrys

Skin Nails & Hair- Hair:
low posterior hairline
generalized hirsutism

Chest- Breasts:
hypoplastic nipples

Skeletal- Feet:
2-3 toe syndactyly
large halluces

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

Skeletal- Spine:
scoliosis

Abdomen- Liver:
hepatomegaly

Head And Neck- Ears:
low-set ears

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

Growth- Other:
normal growth

Respiratory:
sleep apnea

Genitourinary- External Genitalia Male:
inguinal hernias


Clinical features from OMIM:

269921

Human phenotypes related to Sialuria:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
2 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 prominent forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0011220
6 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 dysostosis multiplex 56 32 hallmark (90%) Very frequent (99-80%) HP:0000943
8 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
9 periorbital fullness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000629
10 joint hypermobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001382
11 intellectual disability, mild 56 32 hallmark (90%) Very frequent (99-80%) HP:0001256
12 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
13 memory impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002354
14 cholelithiasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001081
15 generalized hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001290
16 smooth philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000319
17 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
18 hepatosplenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001433
19 upper airway obstruction 56 32 hallmark (90%) Very frequent (99-80%) HP:0002781
20 sleep apnea 56 32 hallmark (90%) Very frequent (99-80%) HP:0010535
21 hoarse voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001609
22 2-3 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0004691
23 episodic abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002574
24 expressive language delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0002474
25 hyperkinesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002487
26 prolonged prothrombin time 56 32 hallmark (90%) Very frequent (99-80%) HP:0008151
27 thin upper lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000219
28 spinal deformities 56 32 hallmark (90%) Very frequent (99-80%) HP:0008443
29 high, narrow palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002705
30 attention deficit hyperactivity disorder 56 32 hallmark (90%) Very frequent (99-80%) HP:0007018
31 elevated hepatic transaminases 56 32 hallmark (90%) Very frequent (99-80%) HP:0002910
32 long hallux 56 32 hallmark (90%) Very frequent (99-80%) HP:0001847
33 prolonged partial thromboplastin time 56 32 hallmark (90%) Very frequent (99-80%) HP:0003645
34 abnormality of metabolism/homeostasis 56 32 Very frequent (99-80%) HP:0001939
35 abnormality of the mitochondrion 56 32 hallmark (90%) Very frequent (99-80%) HP:0012103
36 scoliosis 32 HP:0002650
37 splenomegaly 32 HP:0001744
38 frontal bossing 32 HP:0002007
39 inguinal hernia 32 HP:0000023
40 long philtrum 32 HP:0000343
41 protuberant abdomen 32 HP:0001538
42 synophrys 32 HP:0000664
43 low posterior hairline 32 HP:0002162
44 high palate 32 HP:0000218
45 hypoplastic nipples 32 HP:0002557
46 thoracic hypoplasia 32 HP:0005257
47 generalized hirsutism 32 HP:0002230
48 abnormal facial shape 56 Very frequent (99-80%)

UMLS symptoms related to Sialuria:


seizures, ataxia, athetosis, muscle spasticity

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:

id Genetic test Affiliating Genes
1 Sialuria 29 24 GNE

Anatomical Context for Sialuria

MalaCards organs/tissues related to Sialuria:

39
Liver, Skin, Spleen, Eye

Publications for Sialuria

Articles related to Sialuria:

(show all 29)
id 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
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
4
Free sialic acid storage disease without sialuria. ( 19557856 )
2009
5
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. ( 18653764 )
2008
6
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. ( 17706199 )
2007
7
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. ( 16769205 )
2006
8
Dominant inheritance of sialuria, an inborn error of feedback inhibition. ( 11326336 )
2001
9
Clinical course and biochemistry of sialuria. ( 11486897 )
2001
10
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. ( 10356312 )
1999
11
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. ( 10330343 )
1999
12
Report on two patients with Costello syndrome and sialuria. ( 8291534 )
1993
13
Sialuria ( 20301343 )
1993
14
Clinical and biochemical studies in an American child with sialuria. ( 8439453 )
1993
15
Sialic acid metabolism in sialuria fibroblasts. ( 2019577 )
1991
16
Sialuria: a follow-up report. ( 1779656 )
1991
17
Identification of the metabolic defect in sialuria. ( 2808337 )
1989
18
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. ( 2553307 )
1989
19
Sialuria: a second case. ( 2443758 )
1987
20
Infantile free sialuria without lysosomal storage. ( 3508047 )
1987
21
Detection of sialuria by cation-exchange high-performance liquid chromatography. ( 3760081 )
1986
22
Infantile type of sialic acid storage disease with sialuria. ( 3742847 )
1986
23
Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria. ( 3921284 )
1985
24
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. ( 4032465 )
1985
25
Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts. ( 4000771 )
1985
26
A thin layer chromatographic technique for screening for sialuria. ( 6851155 )
1983
27
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. ( 6889058 )
1983
28
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. ( 444571 )
1979
29
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
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GNE NM_005476.5(GNE): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs121908621 GRCh37 Chromosome 9, 36234103: 36234103
2 GNE NM_005476.5(GNE): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908622 GRCh37 Chromosome 9, 36234102: 36234102
3 GNE NM_005476.5(GNE): c.788G> T (p.Arg263Leu) single nucleotide variant Pathogenic rs121908623 GRCh37 Chromosome 9, 36234111: 36234111
4 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
5 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
6 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
7 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
8 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862

Expression for Sialuria

Search GEO for disease gene expression data for Sialuria.

Pathways for Sialuria

GO Terms for Sialuria

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 NEU1 SLC35A1
2 cellular protein modification process GO:0006464 8.96 SLC35A1 ST3GAL6
3 proton transport GO:0015992 8.62 SLC17A5 SLC35A1

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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