SIALURIA
MCID: SLR001
MIFTS: 44

Sialuria (SIALURIA)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Sialuria

MalaCards integrated aliases for Sialuria:

Name: Sialuria 57 12 24 53 25 59 75 75 37 29 13 6 15 73
Sialuria, French Type 57 76 53 25 59 40 73
Sialic Acid Storage Disease, Finnish Type 73
Infantile Sialic Acid Storage Disease 73
Sialic Acid Storage Disease 44
French Type Sialuria 25
Sialuria French Type 75

Characteristics:

Orphanet epidemiological data:

59
sialuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
sialuria:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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: 59  
Inborn errors of metabolism


Summaries for Sialuria

NIH Rare Diseases : 53 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.

MalaCards based summary : Sialuria, also known as sialuria, french type, is related to salla disease and free sialic acid storage disorders, and has symptoms including seizures, ataxia and athetosis. 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. The drug Azacitidine has been mentioned in the context of this disorder. Affiliated tissues include liver and b cells, and related phenotypes are hypertelorism and low-set ears

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

Genetics Home Reference : 25 Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.

OMIM : 57 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 : 75 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 : 76 Sialuria is a condition where there is increased sialic acid in the... more...

GeneReviews: NBK1164

Related Diseases for Sialuria

Graphical network of the top 20 diseases related to Sialuria:



Diseases related to Sialuria

Symptoms & Phenotypes for Sialuria

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
periorbital fullness
synophrys
epicanthal folds

Neurologic Central Nervous System:
seizures
developmental delay
attention deficit disorder

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 Ears:
low-set ears

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:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 sleep apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0010535
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
10 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
11 dysostosis multiplex 59 32 hallmark (90%) Very frequent (99-80%) HP:0000943
12 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
13 abnormality of metabolism/homeostasis 59 32 Very frequent (99-80%) HP:0001939
14 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
15 periorbital fullness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000629
16 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
17 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
18 cholelithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001081
19 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
20 joint hypermobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001382
21 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
22 episodic abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002574
23 hoarse voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001609
24 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
25 upper airway obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0002781
26 long hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0001847
27 hepatosplenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001433
28 expressive language delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0002474
29 hyperkinesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002487
30 prolonged partial thromboplastin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003645
31 2-3 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0004691
32 prolonged prothrombin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0008151
33 spinal deformities 59 32 hallmark (90%) Very frequent (99-80%) HP:0008443
34 abnormality of the mitochondrion 59 32 hallmark (90%) Very frequent (99-80%) HP:0012103
35 frontal bossing 32 HP:0002007
36 high palate 32 HP:0000218
37 scoliosis 32 HP:0002650
38 inguinal hernia 32 HP:0000023
39 splenomegaly 32 HP:0001744
40 abnormal facial shape 59 Very frequent (99-80%)
41 long philtrum 32 HP:0000343
42 generalized hirsutism 32 HP:0002230
43 low posterior hairline 32 HP:0002162
44 elevated hepatic transaminases 59 Very frequent (99-80%)
45 synophrys 32 HP:0000664
46 hypoplastic nipples 32 HP:0002557
47 thoracic hypoplasia 32 HP:0005257
48 protuberant abdomen 32 HP:0001538
49 elevated hepatic transaminase 32 hallmark (90%) HP:0002910

UMLS symptoms related to Sialuria:


seizures, ataxia, athetosis, muscle spasticity

Drugs & Therapeutics for Sialuria

Drugs for Sialuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Not Applicable 320-67-2 9444

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency Completed NCT03545568 Not Applicable

Search 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 29 GNE

Anatomical Context for Sialuria

MalaCards organs/tissues related to Sialuria:

41
Liver, B Cells

Publications for Sialuria

Articles related to Sialuria:

(show top 50) (show all 51)
# Title Authors Year
1
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. ( 29654786 )
2018
2
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE. ( 29923088 )
2018
3
Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria. ( 27966821 )
2016
4
New observation of sialuria prompts detection of liver tumor in previously reported patient. ( 27142465 )
2016
5
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. ( 23900835 )
2014
6
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
7
Free sialic acid storage disease without sialuria. ( 19557856 )
2009
8
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. ( 18653764 )
2008
9
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. ( 17706199 )
2007
10
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. ( 16769205 )
2006
11
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland. ( 12709150 )
2003
12
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. ( 12637289 )
2003
13
Infantile sialic acid storage disease and protein-losing gastroenteropathy. ( 12849889 )
2003
14
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
15
Dominant inheritance of sialuria, an inborn error of feedback inhibition. ( 11326336 )
2001
16
Clinical course and biochemistry of sialuria. ( 11486897 )
2001
17
Infantile sialic acid storage disease: report of the first case in South America. ( 10422814 )
1999
18
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. ( 10356312 )
1999
19
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. ( 10330343 )
1999
20
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
21
Infantile sialic acid storage disease diagnosed by gas chromatography-mass spectroscopy analyses of urine sample. ( 9323580 )
1997
22
A Japanese case of infantile sialic acid storage disease. ( 8733911 )
1996
23
Infantile sialic acid storage disease: biochemical studies. ( 7573152 )
1995
24
Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. ( 8597831 )
1995
25
Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings. ( 7992007 )
1993
26
Report on two patients with Costello syndrome and sialuria. ( 8291534 )
1993
27
Sialuria ( 20301343 )
1993
28
Clinical and biochemical studies in an American child with sialuria. ( 8439453 )
1993
29
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease. ( 1583876 )
1992
30
Sialic acid metabolism in sialuria fibroblasts. ( 2019577 )
1991
31
Sialuria: a follow-up report. ( 1779656 )
1991
32
Nephrosis in two siblings with infantile sialic acid storage disease. ( 2347341 )
1990
33
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. ( 2502674 )
1989
34
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. ( 2553307 )
1989
35
Identification of the metabolic defect in sialuria. ( 2808337 )
1989
36
Infantile sialic acid storage disease associated with renal disease. ( 3072006 )
1988
37
Infantile sialic acid storage disease in two siblings. ( 3141716 )
1988
38
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
39
Infantile free sialuria without lysosomal storage. ( 3508047 )
1987
40
Sialuria: a second case. ( 2443758 )
1987
41
Prenatal diagnosis and confirmation of infantile sialic acid storage disease. ( 3809113 )
1986
42
Infantile type of sialic acid storage disease with sialuria. ( 3742847 )
1986
43
Detection of sialuria by cation-exchange high-performance liquid chromatography. ( 3760081 )
1986
44
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts. ( 2942833 )
1986
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
Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria. ( 3921284 )
1985
47
Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts. ( 4000771 )
1985
48
A thin layer chromatographic technique for screening for sialuria. ( 6851155 )
1983
49
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. ( 6889058 )
1983
50
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. ( 444571 )
1979

Variations for Sialuria

UniProtKB/Swiss-Prot genetic disease variations for Sialuria:

75
# 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 (show top 50) (show all 248)
# 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.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs121908621 GRCh38 Chromosome 9, 36234106: 36234106
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.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908622 GRCh38 Chromosome 9, 36234105: 36234105
5 GNE NM_005476.5(GNE): c.788G> T (p.Arg263Leu) single nucleotide variant Pathogenic rs121908623 GRCh37 Chromosome 9, 36234111: 36234111
6 GNE NM_005476.5(GNE): c.788G> T (p.Arg263Leu) single nucleotide variant Pathogenic rs121908623 GRCh38 Chromosome 9, 36234114: 36234114
7 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
8 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh38 Chromosome 9, 36217399: 36217399
9 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
10 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh38 Chromosome 9, 36217448: 36217448
11 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh37 Chromosome 9, 36236861: 36236861
12 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh38 Chromosome 9, 36236864: 36236864
13 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
14 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh38 Chromosome 9, 36218224: 36218224
15 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
16 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh38 Chromosome 9, 36246120: 36246120
17 GNE NM_001128227.2(GNE): c.1863C> T (p.Tyr621=) single nucleotide variant Benign/Likely benign rs111302956 GRCh37 Chromosome 9, 36219881: 36219881
18 GNE NM_001128227.2(GNE): c.1863C> T (p.Tyr621=) single nucleotide variant Benign/Likely benign rs111302956 GRCh38 Chromosome 9, 36219884: 36219884
19 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
20 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh38 Chromosome 9, 36219894: 36219894
21 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
22 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh38 Chromosome 9, 36217448: 36217448
23 GNE NM_001128227.2(GNE): c.79C> T (p.Arg27Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs794727279 GRCh37 Chromosome 9, 36249367: 36249367
24 GNE NM_001128227.2(GNE): c.79C> T (p.Arg27Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs794727279 GRCh38 Chromosome 9, 36249370: 36249370
25 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh37 Chromosome 9, 36246044: 36246044
26 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh38 Chromosome 9, 36246047: 36246047
27 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
28 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh38 Chromosome 9, 36236865: 36236865
29 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
30 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh37 Chromosome 9, 36236951: 36236951
31 GNE NM_001128227.2(GNE): c.-10G> A single nucleotide variant Benign/Likely benign rs73449614 GRCh37 Chromosome 9, 36276951: 36276951
32 GNE NM_001128227.2(GNE): c.-10G> A single nucleotide variant Benign/Likely benign rs73449614 GRCh38 Chromosome 9, 36276954: 36276954
33 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh37 Chromosome 9, 36218198: 36218198
34 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh38 Chromosome 9, 36218201: 36218201
35 GNE NM_005476.5(GNE): c.1281+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201025841 GRCh37 Chromosome 9, 36227239: 36227239
36 GNE NM_005476.5(GNE): c.1281+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201025841 GRCh38 Chromosome 9, 36227242: 36227242
37 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh37 Chromosome 9, 36227394: 36227394
38 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh38 Chromosome 9, 36227397: 36227397
39 GNE NM_005476.5(GNE): c.1267A> G (p.Ile423Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35638832 GRCh37 Chromosome 9, 36227259: 36227259
40 GNE NM_005476.5(GNE): c.1267A> G (p.Ile423Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35638832 GRCh38 Chromosome 9, 36227262: 36227262
41 GNE NM_001128227.2(GNE): c.1909+4G> C single nucleotide variant Uncertain significance rs760700813 GRCh37 Chromosome 9, 36219831: 36219831
42 GNE NM_001128227.2(GNE): c.1909+4G> C single nucleotide variant Uncertain significance rs760700813 GRCh38 Chromosome 9, 36219834: 36219834
43 GNE NM_001128227.2(GNE): c.897G> A (p.Lys299=) single nucleotide variant Conflicting interpretations of pathogenicity rs141814943 GRCh37 Chromosome 9, 36234095: 36234095
44 GNE NM_001128227.2(GNE): c.897G> A (p.Lys299=) single nucleotide variant Conflicting interpretations of pathogenicity rs141814943 GRCh38 Chromosome 9, 36234098: 36234098
45 GNE NM_001128227.2(GNE): c.1964C> T (p.Ala655Val) single nucleotide variant Uncertain significance rs200278654 GRCh37 Chromosome 9, 36218242: 36218242
46 GNE NM_001128227.2(GNE): c.1964C> T (p.Ala655Val) single nucleotide variant Uncertain significance rs200278654 GRCh38 Chromosome 9, 36218245: 36218245
47 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh37 Chromosome 9, 36246469: 36246469
48 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh38 Chromosome 9, 36246472: 36246472
49 GNE NM_005476.5(GNE): c.1872G> A (p.Ala624=) single nucleotide variant Benign/Likely benign rs145361930 GRCh37 Chromosome 9, 36218241: 36218241
50 GNE NM_005476.5(GNE): c.1872G> A (p.Ala624=) single nucleotide variant Benign/Likely benign rs145361930 GRCh38 Chromosome 9, 36218244: 36218244

Expression for Sialuria

Search GEO for disease gene expression data for Sialuria.

Pathways for Sialuria

Pathways related to Sialuria according to KEGG:

37
# 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 metabolic process GO:0008152 9.16 GNE NEU1
2 cellular protein modification process GO:0006464 8.96 SLC35A1 ST3GAL6
3 sialic acid transport GO:0015739 8.62 SLC17A5 SLC35A1

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

# Name GO ID Score Top Affiliating Genes
1 sialic acid transmembrane transporter activity GO:0015136 8.62 SLC17A5 SLC35A1

Sources for Sialuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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