SIALURIA
MCID: SLR001
MIFTS: 48

Sialuria (SIALURIA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sialuria

MalaCards integrated aliases for Sialuria:

Name: Sialuria 57 12 20 43 58 72 72 36 29 13 6 15 70
Sialuria, French Type 57 73 20 43 58 39 70
Sialic Acid Storage Disease, Finnish Type 70
Infantile Sialic Acid Storage Disease 70
Sialic Acid Storage Disease 44
French Type Sialuria 43
Sialuria French Type 72

Characteristics:

Orphanet epidemiological data:

58
sialuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
sialuria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Sialuria

MedlinePlus Genetics : 43 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.Young children with sialuria tend to have frequent upper respiratory infections and episodes of dehydration and stomach upset (gastroenteritis). Older children may have seizures and learning difficulties. In some affected children, intellectual development is nearly normal.The features of sialuria vary widely among affected people. Many of the problems associated with this disorder appear to improve with age, although little is known about the long-term effects of the disease. It is likely that some adults with sialuria never come to medical attention because they have very mild signs and symptoms or no health problems related to the condition.

MalaCards based summary : Sialuria, also known as sialuria, french type, is related to free sialic acid storage disorders and nonaka myopathy, 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 spleen, ovary and liver, and related phenotypes are sleep apnea and coarse facial features

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3166 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Salla disease (SD) and infantile sialic acid storage disorder (ISSD) is a rare autosomal recessive lysosomal storage disease caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin is lysosomal membrane transporter that exports free sialic acid from lysosomes and deficient of sialin results in excessive lysosomal storage of free sialic acid. ISSD has a severe phenotype with infantile onset, while the SD has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. The differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key enzyme for the biosynthesis of sialic acid.

UniProtKB/Swiss-Prot : 72 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 : 73 Sialuria is a group of disorders resulting in an accumulation of free sialic acid. One type, known as... more...

Related Diseases for Sialuria

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 free sialic acid storage disorders 31.7 SLC17A5 GNE
2 nonaka myopathy 29.2 NAGK GNE CHL1 ATP7A
3 salla disease 11.2
4 infantile sialic acid storage disease 11.1
5 neuraminidase deficiency 11.1
6 lysosomal storage disease 11.0
7 infantile free sialic acid storage disease 10.9
8 hydrops fetalis, nonimmune 10.4
9 lymphatic malformation 7 10.4
10 galactosialidosis 10.2
11 ataxia and polyneuropathy, adult-onset 10.2
12 nephrotic syndrome 10.2
13 inherited metabolic disorder 10.2
14 spasticity 10.2
15 myopathy, distal, with rimmed vacuoles 10.1
16 hypertelorism 10.0
17 strabismus 10.0
18 gastroschisis 10.0
19 nephrosialidosis 10.0
20 3-methylglutaconic aciduria, type iii 10.0
21 pulmonary hypertension 10.0
22 autosomal recessive disease 10.0
23 inguinal hernia 10.0
24 bone disease 10.0
25 esophageal atresia 10.0
26 cystinosis 10.0
27 spastic quadriplegia 10.0
28 hemopericardium 10.0
29 pericardial effusion 10.0
30 clubfoot 10.0
31 hypertrophic cardiomyopathy 10.0
32 oligohydramnios 10.0
33 quadriplegia 10.0
34 periventricular leukomalacia 10.0
35 hypothyroidism 10.0
36 cerebral palsy 10.0
37 agammaglobulinemia 10.0
38 gingival hypertrophy 10.0
39 mechanical strabismus 10.0
40 pathologic nystagmus 10.0
41 48,xyyy 10.0
42 intermediate severe salla disease 10.0
43 abdominal wall defect 10.0
44 posttransplant acute limbic encephalitis 10.0
45 mucopolysaccharidosis-plus syndrome 10.0
46 neonatal jaundice 10.0
47 laryngomalacia 9.8
48 aspartylglucosaminuria 9.8
49 costello syndrome 9.8
50 alacrima, achalasia, and mental retardation syndrome 9.8

Graphical network of the top 20 diseases related to Sialuria:



Diseases related to Sialuria

Symptoms & Phenotypes for Sialuria

Human phenotypes related to Sialuria:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0010535
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
7 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
8 dysostosis multiplex 58 31 hallmark (90%) Very frequent (99-80%) HP:0000943
9 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
10 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
11 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
12 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
13 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
14 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
15 cholelithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001081
16 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
17 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
18 hoarse voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001609
19 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
20 prolonged prothrombin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0008151
21 long hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0001847
22 upper airway obstruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0002781
23 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
24 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
25 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0002474
26 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
27 periorbital fullness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000629
28 episodic abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002574
29 hyperkinetic movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0002487
30 abnormality of the mitochondrion 58 31 hallmark (90%) Very frequent (99-80%) HP:0012103
31 prolonged partial thromboplastin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003645
32 spinal deformities 58 31 hallmark (90%) Very frequent (99-80%) HP:0008443
33 seizure 31 hallmark (90%) HP:0001250
34 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
35 abnormality of metabolism/homeostasis 58 31 Very frequent (99-80%) HP:0001939
36 seizures 58 Very frequent (99-80%)
37 frontal bossing 31 HP:0002007
38 scoliosis 31 HP:0002650
39 high palate 31 HP:0000218
40 splenomegaly 31 HP:0001744
41 inguinal hernia 31 HP:0000023
42 abnormal facial shape 58 Very frequent (99-80%)
43 low posterior hairline 31 HP:0002162
44 long philtrum 31 HP:0000343
45 generalized hirsutism 31 HP:0002230
46 synophrys 31 HP:0000664
47 hypoplastic nipples 31 HP:0002557
48 thoracic hypoplasia 31 HP:0005257
49 protuberant abdomen 31 HP:0001538

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
developmental delay
attention deficit disorder

Respiratory:
sleep apnea

Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
hypertelorism
synophrys
periorbital fullness
epicanthal folds

Skin Nails Hair Hair:
low posterior hairline
generalized hirsutism

Abdomen External Features:
protuberant abdomen

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

Genitourinary External Genitalia Male:
inguinal hernias

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

Skeletal Spine:
scoliosis

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

Abdomen Liver:
hepatomegaly

Head And Neck Ears:
low-set ears

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
2-3 toe syndactyly
large halluces

Growth Other:
normal growth

Chest External Features:
small chest

Clinical features from OMIM®:

269921 (Updated 05-Apr-2021)

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 320-67-2 9444

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sialic Acid Supplementation in NANS Deficiency: An Open-label, Proof of Concept, Two-centers Study Completed NCT03545568

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:

40
Spleen, Ovary, Liver

Publications for Sialuria

Articles related to Sialuria:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Dominant inheritance of sialuria, an inborn error of feedback inhibition. 57 6 61
11326336 2001
2
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 61 57 6
10330343 1999
3
Clinical and biochemical studies in an American child with sialuria. 57 6 61
8439453 1993
4
Identification of the metabolic defect in sialuria. 61 57 6
2808337 1989
5
Sialuria: a second case. 57 6 61
2443758 1987
6
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. 61 6
23437777 2013
7
Enhanced sialylation of recombinant human erythropoietin in Chinese hamster ovary cells by combinatorial engineering of selected genes. 6 61
21436238 2011
8
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). 61 6
11916006 2002
9
Clinical course and biochemistry of sialuria. 57 61
11486897 2001
10
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. 6 61
10356312 1999
11
Sialic acid metabolism in sialuria fibroblasts. 57 61
2019577 1991
12
Sialuria: a follow-up report. 57 61
1779656 1991
13
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. 61 57
2553307 1989
14
Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts. 61 57
4000771 1985
15
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. 61 57
444571 1979
16
[Description of a new type of melituria, called sialuria]. 57 61
5658957 1968
17
Discordant manifestations in Italian brothers with GNE myopathy. 6
29406958 2018
18
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. 6
29307446 2018
19
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. 6
29480215 2018
20
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. 6
28895049 2017
21
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. 6
28717665 2017
22
A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene. 6
28320138 2017
23
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
24
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 6
27829678 2017
25
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 6
28403181 2017
26
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. 6
28099567 2017
27
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 6
26231298 2015
28
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 6
25986339 2015
29
Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report. 6
26161358 2015
30
GNE myopathy: current update and future therapy. 6
25002140 2015
31
Two recurrent mutations are associated with GNE myopathy in the North of Britain. 6
24695763 2014
32
Atypical presentation of GNE myopathy with asymmetric hand weakness. 6
25182749 2014
33
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. 6
25257349 2014
34
Role of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) in β1-integrin-mediated cell adhesion. 6
24474513 2014
35
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 6
24027297 2014
36
Mutation update for GNE gene variants associated with GNE myopathy. 6
24796702 2014
37
Non-specific accumulation of glycosphingolipids in GNE myopathy. 6
24136589 2014
38
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran. 6
23278550 2013
39
GNE myopathy in India. 6
24005727 2013
40
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. 6
23549799 2013
41
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. 6
22507750 2012
42
Muscle imaging findings in GNE myopathy. 6
22231866 2012
43
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. 6
22196754 2011
44
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. 6
21708040 2011
45
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 6
21307865 2011
46
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 6
20300792 2010
47
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. 6
20059379 2010
48
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. 6
20175955 2010
49
[Development of therapy for distal myopathy with rimmed vacuoles]. 6
20030229 2009
50
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. 6
18555875 2008

Variations for Sialuria

ClinVar genetic disease variations for Sialuria:

6 (show top 50) (show all 249)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNE NC_000009.12:g.(?_36276884)_(36277052_?)del Deletion Pathogenic 832598 GRCh37: 9:36276881-36277049
GRCh38:
2 GNE NM_005476.7(GNE):c.797G>A (p.Arg266Gln) SNV Pathogenic 6022 rs121908622 GRCh37: 9:36234102-36234102
GRCh38: 9:36234105-36234105
3 GNE NM_005476.7(GNE):c.788G>T (p.Arg263Leu) SNV Pathogenic 6023 rs121908623 GRCh37: 9:36234111-36234111
GRCh38: 9:36234114-36234114
4 GNE NM_005476.7(GNE):c.736C>T (p.Arg246Trp) SNV Pathogenic 197184 rs773729410 GRCh37: 9:36236862-36236862
GRCh38: 9:36236865-36236865
5 GNE NM_005476.7(GNE):c.175C>T (p.Arg59Ter) SNV Pathogenic 285936 rs745517517 GRCh37: 9:36246469-36246469
GRCh38: 9:36246472-36246472
6 GNE NM_005476.7(GNE):c.829C>T (p.Arg277Cys) SNV Pathogenic 188847 rs762106720 GRCh37: 9:36234070-36234070
GRCh38: 9:36234073-36234073
7 GNE NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) Deletion Pathogenic 847245 GRCh37: 9:36222860-36222861
GRCh38: 9:36222863-36222864
8 GNE NM_005476.7(GNE):c.-15C>T SNV Pathogenic 195244 rs794727279 GRCh37: 9:36249367-36249367
GRCh38: 9:36249370-36249370
9 GNE NM_005476.7(GNE):c.2023T>C (p.Tyr675His) SNV Pathogenic 861130 GRCh37: 9:36217508-36217508
GRCh38: 9:36217511-36217511
10 GNE NM_005476.7(GNE):c.470_471del (p.His157fs) Deletion Pathogenic 498582 rs1554663368 GRCh37: 9:36246173-36246174
GRCh38: 9:36246176-36246177
11 GNE NM_005476.7(GNE):c.636dup (p.Asp213fs) Duplication Pathogenic 371213 rs1057517094 GRCh37: 9:36236961-36236962
GRCh38: 9:36236964-36236965
12 GNE NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) SNV Pathogenic 552288 rs747199032 GRCh37: 9:36227268-36227268
GRCh38: 9:36227271-36227271
13 GNE NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) SNV Pathogenic 955117 GRCh37: 9:36222939-36222939
GRCh38: 9:36222942-36222942
14 GNE NM_005476.7(GNE):c.1130del (p.Ile377fs) Deletion Pathogenic 956608 GRCh37: 9:36227396-36227396
GRCh38: 9:36227399-36227399
15 GNE NM_005476.7(GNE):c.1510dup (p.Leu504fs) Duplication Pathogenic 958303 GRCh37: 9:36222896-36222897
GRCh38: 9:36222899-36222900
16 GNE NM_005476.7(GNE):c.680dup (p.His228fs) Duplication Pathogenic 557458 rs1554661552 GRCh37: 9:36236917-36236918
GRCh38: 9:36236920-36236921
17 GNE NM_005476.7(GNE):c.787C>T (p.Arg263Ter) SNV Pathogenic 966732 GRCh37: 9:36234112-36234112
GRCh38: 9:36234115-36234115
18 GNE NM_005476.7(GNE):c.797G>A (p.Arg266Gln) SNV Pathogenic 6022 rs121908622 GRCh37: 9:36234102-36234102
GRCh38: 9:36234105-36234105
19 GNE NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) Insertion Pathogenic 968264 GRCh37: 9:36229042-36229043
GRCh38: 9:36229045-36229046
20 GNE NM_005476.7(GNE):c.484C>T (p.Arg162Cys) SNV Pathogenic 290196 rs769215411 GRCh37: 9:36246160-36246160
GRCh38: 9:36246163-36246163
21 GNE NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) SNV Pathogenic 286439 rs757523840 GRCh37: 9:36218269-36218269
GRCh38: 9:36218272-36218272
22 GNE NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) SNV Pathogenic 283278 rs199877522 GRCh37: 9:36227394-36227394
GRCh38: 9:36227397-36227397
23 GNE NM_005476.7(GNE):c.2135T>C (p.Met712Thr) SNV Pathogenic 6025 rs28937594 GRCh37: 9:36217396-36217396
GRCh38: 9:36217399-36217399
24 GNE NM_005476.7(GNE):c.737G>A (p.Arg246Gln) SNV Pathogenic 6030 rs121908629 GRCh37: 9:36236861-36236861
GRCh38: 9:36236864-36236864
25 GNE NM_005476.7(GNE):c.527A>T (p.Asp176Val) SNV Pathogenic 41233 rs139425890 GRCh37: 9:36246117-36246117
GRCh38: 9:36246120-36246120
26 GNE NM_005476.7(GNE):c.1892C>T (p.Ala631Val) SNV Pathogenic 6035 rs62541771 GRCh37: 9:36218221-36218221
GRCh38: 9:36218224-36218224
27 GNE NM_005476.7(GNE):c.1714G>C (p.Val572Leu) SNV Pathogenic 6033 rs121908632 GRCh37: 9:36219937-36219937
GRCh38: 9:36219940-36219940
28 GNE NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) SNV Pathogenic 286439 rs757523840 GRCh37: 9:36218269-36218269
GRCh38: 9:36218272-36218272
29 GNE NM_005476.7(GNE):c.1571C>T (p.Ala524Val) SNV Pathogenic/Likely pathogenic 424619 rs764698870 GRCh37: 9:36222836-36222836
GRCh38: 9:36222839-36222839
30 GNE NM_005476.7(GNE):c.2086G>A (p.Val696Met) SNV Pathogenic/Likely pathogenic 6028 rs121908627 GRCh37: 9:36217445-36217445
GRCh38: 9:36217448-36217448
31 GNE NM_005476.7(GNE):c.647T>C (p.Val216Ala) SNV Pathogenic/Likely pathogenic 218297 rs779694939 GRCh37: 9:36236951-36236951
GRCh38: 9:36236954-36236954
32 GNE NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) SNV Pathogenic/Likely pathogenic 188882 rs748949603 GRCh37: 9:36219891-36219891
GRCh38: 9:36219894-36219894
33 GNE NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) SNV Pathogenic/Likely pathogenic 583405 rs200763627 GRCh37: 9:36276924-36276924
GRCh38: 9:36276927-36276927
34 GNE NM_005476.7(GNE):c.796C>T (p.Arg266Trp) SNV Pathogenic/Likely pathogenic 6021 rs121908621 GRCh37: 9:36234103-36234103
GRCh38: 9:36234106-36234106
35 GNE NC_000009.12:g.(?_36227238)_(36227468_?)dup Duplication Likely pathogenic 832365 GRCh37: 9:36227235-36227465
GRCh38:
36 GNE NM_005476.7(GNE):c.79C>T (p.Pro27Ser) SNV Likely pathogenic 464102 rs1554664064 GRCh37: 9:36249274-36249274
GRCh38: 9:36249277-36249277
37 GNE NM_005476.7(GNE):c.1070+2dup Duplication Likely pathogenic 287448 rs886043636 GRCh37: 9:36229015-36229016
GRCh38: 9:36229018-36229019
38 GNE NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) SNV Likely pathogenic 288129 rs762009737 GRCh37: 9:36219976-36219976
GRCh38: 9:36219979-36219979
39 GNE NM_005476.7(GNE):c.80C>T (p.Pro27Leu) SNV Likely pathogenic 551266 rs1236647498 GRCh37: 9:36249273-36249273
GRCh38: 9:36249276-36249276
40 GNE NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) SNV Uncertain significance 451929 rs138357804 GRCh37: 9:36222965-36222965
GRCh38: 9:36222968-36222968
41 GNE NM_005476.7(GNE):c.2029C>T (p.His677Tyr) SNV Uncertain significance 286153 rs527267621 GRCh37: 9:36217502-36217502
GRCh38: 9:36217505-36217505
42 GNE NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) SNV Uncertain significance 460453 rs1554659040 GRCh37: 9:36223449-36223449
GRCh38: 9:36223452-36223452
43 GNE NM_005476.7(GNE):c.2097G>A (p.Ser699=) SNV Uncertain significance 529878 rs200490682 GRCh37: 9:36217434-36217434
GRCh38: 9:36217437-36217437
44 GNE NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) SNV Uncertain significance 941587 GRCh37: 9:36217436-36217436
GRCh38: 9:36217439-36217439
45 GNE NM_005476.7(GNE):c.1775_1786del (p.Ser592_Ala595del) Deletion Uncertain significance 944084 GRCh37: 9:36219865-36219876
GRCh38: 9:36219868-36219879
46 GNE NM_005476.7(GNE):c.1412-4G>A SNV Uncertain significance 500345 rs146067766 GRCh37: 9:36222999-36222999
GRCh38: 9:36223002-36223002
47 GNE NM_005476.7(GNE):c.769+3dup Duplication Uncertain significance 282276 rs756817842 GRCh37: 9:36236825-36236825
GRCh38: 9:36236827-36236828
48 GNE NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) SNV Uncertain significance 283229 rs372732220 GRCh37: 9:36219844-36219844
GRCh38: 9:36219847-36219847
49 GNE NM_005476.7(GNE):c.*1007G>A SNV Uncertain significance 976599 GRCh37: 9:36216355-36216355
GRCh38: 9:36216358-36216358
50 GNE NM_005476.7(GNE):c.*988G>C SNV Uncertain significance 976600 GRCh37: 9:36216374-36216374
GRCh38: 9:36216377-36216377

UniProtKB/Swiss-Prot genetic disease variations for Sialuria:

72
# 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

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

Pathways related to Sialuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 ST3GAL6 SLC35A1 SLC17A5 NPL NEU1 NANS
2
Show member pathways
12.44 ST3GAL6 SLC35A1 SLC17A5 NPL NEU1 NANS
3
Show member pathways
11.52 ST3GAL6 SLC35A1 SLC17A5 NPL NEU1 NANS
4
Show member pathways
11.34 NPL NANS NAGK GNE

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 9.33 SLC35A1 NPL NEU1
2 carbohydrate phosphorylation GO:0046835 8.96 NAGK GNE
3 N-acetylneuraminate catabolic process GO:0019262 8.62 NPL NAGK

Sources for Sialuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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