MCID: FRS004
MIFTS: 41

Free Sialic Acid Storage Disorders

Categories: Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Free Sialic Acid Storage Disorders

MalaCards integrated aliases for Free Sialic Acid Storage Disorders:

Name: Free Sialic Acid Storage Disorders 25
Free Sialic Acid Storage Disease 20 43 58 71
Sialic Acid Storage Disease 20 43 54 6
N-Acetylneuraminic Acid Storage Disease 20 43 71
Nana Storage Disease 20 43
Lysosomal Free Sialic Acid Storage Disorders 20
Sialic Acid Storage Disease, Finnish Type 71
Sialuria, Finnish Type 43
Sialuria 71

Characteristics:

Orphanet epidemiological data:

58
free sialic acid storage disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

25
Penetrance The fsasds appear to be fully penetrant. however, mochel et al [2009] reported two individuals with homozygous p.lys136glu pathogenic variants, no detectable urinary sialic acid abnormality, and elevated csf free sialic acid, suggesting that penetrance based on urinary studies alone may be incomplete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Free Sialic Acid Storage Disorders

MedlinePlus Genetics : 43 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.Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites). Affected infants may have a condition called hydrops fetalis in which excess fluid accumulates in the body before birth. Children with this severe form of the condition usually live only into early childhood.Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). Individuals with Salla disease usually survive into adulthood.People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity.

MalaCards based summary : Free Sialic Acid Storage Disorders, also known as free sialic acid storage disease, is related to sialuria and infantile sialic acid storage disease, and has symptoms including seizures, ataxia and athetosis. An important gene associated with Free Sialic Acid Storage Disorders is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. The drug Azacitidine has been mentioned in the context of this disorder. Affiliated tissues include spleen and bone, and related phenotypes are intellectual disability and spasticity

GARD : 20 Free sialic acid storage diseases are inherited conditions that lead to progressive neurological damage. There are three forms of free sialic acid storage diseases; an infantile form, an intermediate severe form and Salla disease. The infantile form is the most severe, with symptoms appearing before birth or soon after. Salla disease is the least severe with symptoms that start in the first year of life and progress slowly through adulthood. The intermediate severe form is less severe than the infantile form, but more severe than Salla disease. General symptoms of free sialic acid storage diseases include developmental delay, low muscle tone, abnormal movements, and seizures. They are progressive, and symptoms get worse over time. All forms of free sialic acid storage disease are caused by genetic changes (mutations) in the SLC17A5 gene and are inherited in an autosomal recessive manner. Free sialic acid storage disease can be diagnosed by laboratory tests looking for sialic acid in the urine, imaging studies of the brain, and genetic testing. Treatment is based on the symptoms and maintaining quality of life. People with the least severe form of this disease (Salla disease) can live into adulthood.

GeneReviews: NBK1470

Related Diseases for Free Sialic Acid Storage Disorders

Diseases in the Free Sialic Acid Storage Disorders family:

Infantile Free Sialic Acid Storage Disease

Diseases related to Free Sialic Acid Storage Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 sialuria 29.5 SLC17A5 GNE
2 infantile sialic acid storage disease 10.5
3 salla disease 10.5
4 hydrops fetalis, nonimmune 10.3
5 hypotonia 10.3
6 galactosialidosis 10.2
7 inherited metabolic disorder 10.2
8 neuraminidase deficiency 10.2
9 mucopolysaccharidosis-plus syndrome 10.2
10 dysostosis 10.2
11 lysosomal storage disease with skeletal involvement 10.2
12 lysosomal storage disease 10.1
13 athetosis 10.1
14 infantile free sialic acid storage disease 10.1
15 intermediate severe salla disease 10.1
16 spasticity 10.1
17 strabismus 10.1
18 ataxia and polyneuropathy, adult-onset 10.1
19 esophageal atresia 10.1
20 leukodystrophy 10.1
21 hemopericardium 10.1
22 pericardial effusion 10.1
23 nephrotic syndrome 10.1
24 cerebral palsy 10.1
25 agammaglobulinemia 10.1
26 mechanical strabismus 10.1
27 posttransplant acute limbic encephalitis 10.1
28 aspartylglucosaminuria 10.1
29 mucolipidosis 10.1
30 glycoproteinosis 10.1
31 hypertelorism 10.0
32 laryngomalacia 10.0
33 gastroschisis 10.0
34 nephrosialidosis 10.0
35 3-methylglutaconic aciduria, type iii 10.0
36 alacrima, achalasia, and mental retardation syndrome 10.0
37 pulmonary hypertension 10.0
38 autosomal recessive disease 10.0
39 inguinal hernia 10.0
40 bone disease 10.0
41 cystinosis 10.0
42 spastic quadriplegia 10.0
43 clubfoot 10.0
44 hypertrophic cardiomyopathy 10.0
45 oligohydramnios 10.0
46 quadriplegia 10.0
47 periventricular leukomalacia 10.0
48 hypothyroidism 10.0
49 gingival hypertrophy 10.0
50 pathologic nystagmus 10.0

Graphical network of the top 20 diseases related to Free Sialic Acid Storage Disorders:



Diseases related to Free Sialic Acid Storage Disorders

Symptoms & Phenotypes for Free Sialic Acid Storage Disorders

Human phenotypes related to Free Sialic Acid Storage Disorders:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
6 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
7 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
9 hypotonia 31 hallmark (90%) HP:0001252
10 abnormal foot morphology 31 hallmark (90%) HP:0001760
11 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
12 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
13 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
14 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
15 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
16 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
17 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
18 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
19 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
20 abnormality of the upper limb 58 31 frequent (33%) Frequent (79-30%) HP:0002817
21 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
22 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
23 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
24 athetosis 58 31 frequent (33%) Frequent (79-30%) HP:0002305
25 seizure 31 frequent (33%) HP:0001250
26 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
27 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
28 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
29 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
30 seizures 58 Frequent (79-30%)
31 neurological speech impairment 58 Frequent (79-30%)
32 muscular hypotonia 58 Very frequent (99-80%)
33 abnormality of the foot 58 Very frequent (99-80%)

UMLS symptoms related to Free Sialic Acid Storage Disorders:


seizures, ataxia, athetosis, muscle spasticity

Drugs & Therapeutics for Free Sialic Acid Storage Disorders

Drugs for Free Sialic Acid Storage Disorders (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 Free Sialic Acid Storage Disorders

Genetic Tests for Free Sialic Acid Storage Disorders

Anatomical Context for Free Sialic Acid Storage Disorders

MalaCards organs/tissues related to Free Sialic Acid Storage Disorders:

40
Spleen, Bone

Publications for Free Sialic Acid Storage Disorders

Articles related to Free Sialic Acid Storage Disorders:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. 6 25 61 54
16170568 2005
2
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. 25 61 6
12794687 2003
3
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. 61 6 25
12794688 2003
4
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. 25 6 61
10947946 2000
5
Clinical spectrum of infantile free sialic acid storage disease. 6 25 61
10069709 1999
6
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. 25 6
2010546 1991
7
Free sialic acid storage disease without sialuria. 25 61 54
19557856 2009
8
Varied mechanisms underlie the free sialic acid storage disorders. 61 6
15516337 2005
9
Functional characterization of wild-type and mutant human sialin. 61 6
15510212 2004
10
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. 61 25 54
15172005 2004
11
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. 54 61 25
15172001 2004
12
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. 6 61
12121352 2002
13
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 6 54
10581036 1999
14
Infantile sialic acid storage disease: biochemical studies. 6 61
7573152 1995
15
Sialic acid storage disease. 61 6
2334213 1990
16
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder. 25 61
29875421 2019
17
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. 61 25
30243016 2018
18
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. 61 25
28187749 2017
19
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 25 61
15805149 2005
20
Sialin expression in the CNS implicates extralysosomal function in neurons. 61 25
15006695 2004
21
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease. 25 61
14684624 2004
22
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. 61 25
15635485 2004
23
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. 25 61
11992753 2002
24
Dominant inheritance of sialuria, an inborn error of feedback inhibition. 6
11326336 2001
25
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 6
10330343 1999
26
Hydrops fetalis: lysosomal storage disorders in extremis. 61 25
10645471 1999
27
Clinical and biochemical studies in an American child with sialuria. 6
8439453 1993
28
Identification of the metabolic defect in sialuria. 6
2808337 1989
29
Sialuria: a second case. 6
2443758 1987
30
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. 6
7151835 1982
31
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
32
Neurocognitive profiles in Salla disease. 25
15581157 2004
33
Cerebellar white matter involvement in Salla disease. 25
15179531 2004
34
Two cases of Salla disease in Danish children. 25
14696864 2003
35
A case of Salla disease with involvement of the cerebellar white matter. 25
12592494 2003
36
Free sialic acid storage (Salla) disease in Sweden. 25
12578289 2002
37
Multiple neuroendocrine disorder in Salla disease. 25
11669356 2001
38
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. 25
10891913 2000
39
Brain involvement in Salla disease. 25
10219409 1999
40
Molecular genetics of the Finnish disease heritage. 25
10469845 1999
41
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. 25
3961501 1986
42
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. 25
6681560 1983
43
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
44
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. 61
29654786 2018
45
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease. 61
28662915 2017
46
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice. 61
28189729 2017
47
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. 61
26076308 2015
48
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. 61
23900835 2014
49
In response to "Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS" by van den Bosch et al. 61
22083207 2012
50
Functional characterization of vesicular excitatory amino acid transport by human sialin. 61
21781115 2011

Variations for Free Sialic Acid Storage Disorders

ClinVar genetic disease variations for Free Sialic Acid Storage Disorders:

6 (show top 50) (show all 449)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC17A5 SLC17A5, 1-BP DEL, 533C Deletion Pathogenic 5616
2 SLC17A5 SLC17A5, 148-BP DEL, NT1112 Deletion Pathogenic 5617
3 SLC17A5 NM_012434.5(SLC17A5):c.548A>G (p.His183Arg) SNV Pathogenic 5618 rs119491109 6:74348200-74348200 6:73638477-73638477
4 SLC17A5 NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) SNV Pathogenic 5619 rs119491110 6:74325148-74325148 6:73615425-73615425
5 SLC17A5 SLC17A5, 500-BP INS, NT978 Insertion Pathogenic 5620
6 SLC17A5 SLC17A5, 15-BP DEL, NT802 Deletion Pathogenic 5621
7 GNE NM_005476.7(GNE):c.797G>A (p.Arg266Gln) SNV Pathogenic 6022 rs121908622 9:36234102-36234102 9:36234105-36234105
8 GNE NM_005476.7(GNE):c.788G>T (p.Arg263Leu) SNV Pathogenic 6023 rs121908623 9:36234111-36234111 9:36234114-36234114
9 SLC17A5 NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) Deletion Pathogenic 56551 rs386833987 6:74325141-74325142 6:73615418-73615419
10 SLC17A5 NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) SNV Pathogenic 100735 rs587779410 6:74351439-74351439 6:73641716-73641716
11 SLC17A5 SLC17A5, 15-BP DEL, NT802 Deletion Pathogenic 5621
12 SLC17A5 NM_012434.5(SLC17A5):c.526-2A>G SNV Pathogenic 555734 rs1554164096 6:74348224-74348224 6:73638501-73638501
13 GNE NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) SNV Pathogenic 286439 rs757523840 9:36218269-36218269 9:36218272-36218272
14 GNE NM_005476.7(GNE):c.736C>T (p.Arg246Trp) SNV Pathogenic 197184 rs773729410 9:36236862-36236862 9:36236865-36236865
15 SLC17A5 NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) SNV Pathogenic 644884 rs1474077825 6:74354200-74354200 6:73644477-73644477
16 SLC17A5 NC_000006.12:g.(?_73641681)_(73644613_?)del Deletion Pathogenic 649623 6:74351404-74354336 6:73641681-73644613
17 SLC17A5 NC_000006.12:g.(?_73644397)_(73644613_?)del Deletion Pathogenic 832233 6:74354120-74354336
18 GNE NM_005476.7(GNE):c.829C>T (p.Arg277Cys) SNV Pathogenic 188847 rs762106720 9:36234070-36234070 9:36234073-36234073
19 SLC17A5 NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) SNV Pathogenic 841274 6:74331582-74331582 6:73621859-73621859
20 GNE NC_000009.12:g.(?_36276884)_(36277052_?)del Deletion Pathogenic 832598 9:36276881-36277049
21 GNE NM_005476.7(GNE):c.175C>T (p.Arg59Ter) SNV Pathogenic 285936 rs745517517 9:36246469-36246469 9:36246472-36246472
22 GNE NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) Deletion Pathogenic 847245 9:36222860-36222861 9:36222863-36222864
23 GNE NM_005476.7(GNE):c.2023T>C (p.Tyr675His) SNV Pathogenic 861130 9:36217508-36217508 9:36217511-36217511
24 GNE NM_005476.7(GNE):c.-15C>T SNV Pathogenic 195244 rs794727279 9:36249367-36249367 9:36249370-36249370
25 GNE NM_005476.7(GNE):c.470_471del (p.His157fs) Deletion Pathogenic 498582 rs1554663368 9:36246173-36246174 9:36246176-36246177
26 GNE NM_005476.7(GNE):c.636dup (p.Asp213fs) Duplication Pathogenic 371213 rs1057517094 9:36236961-36236962 9:36236964-36236965
27 GNE NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) SNV Pathogenic 552288 rs747199032 9:36227268-36227268 9:36227271-36227271
28 GNE NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) SNV Pathogenic 955117 9:36222939-36222939 9:36222942-36222942
29 GNE NM_005476.7(GNE):c.1130del (p.Ile377fs) Deletion Pathogenic 956608 9:36227396-36227396 9:36227399-36227399
30 GNE NM_005476.7(GNE):c.1510dup (p.Leu504fs) Duplication Pathogenic 958303 9:36222896-36222897 9:36222899-36222900
31 SLC17A5 NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) SNV Pathogenic 960642 6:74346425-74346425 6:73636702-73636702
32 GNE NM_005476.7(GNE):c.680dup (p.His228fs) Duplication Pathogenic 557458 rs1554661552 9:36236917-36236918 9:36236920-36236921
33 GNE NM_005476.7(GNE):c.787C>T (p.Arg263Ter) SNV Pathogenic 966732 9:36234112-36234112 9:36234115-36234115
34 GNE NM_005476.7(GNE):c.797G>A (p.Arg266Gln) SNV Pathogenic 6022 rs121908622 9:36234102-36234102 9:36234105-36234105
35 GNE NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) Insertion Pathogenic 968264 9:36229042-36229043 9:36229045-36229046
36 GNE NM_005476.7(GNE):c.484C>T (p.Arg162Cys) SNV Pathogenic 290196 rs769215411 9:36246160-36246160 9:36246163-36246163
37 SLC17A5 NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter) SNV Pathogenic 973243 6:74345115-74345115 6:73635392-73635392
38 SLC17A5 NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) SNV Pathogenic 5615 rs80338794 6:74354306-74354306 6:73644583-73644583
39 SLC17A5 NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) Deletion Pathogenic 56558 rs386833994 6:74345108-74345122 6:73635385-73635399
40 SLC17A5 NM_012434.5(SLC17A5):c.533del (p.Thr178fs) Deletion Pathogenic 167693 rs727504156 6:74348215-74348215 6:73638492-73638492
41 GNE NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) SNV Pathogenic 283278 rs199877522 9:36227394-36227394 9:36227397-36227397
42 SLC17A5 NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) SNV Pathogenic 440272 rs201284672 6:74331587-74331587 6:73621864-73621864
43 SLC17A5 NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) SNV Pathogenic 21493 rs80338795 6:74351533-74351533 6:73641810-73641810
44 SLC17A5 NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) SNV Pathogenic 5615 rs80338794 6:74354306-74354306 6:73644583-73644583
45 GNE NM_005476.7(GNE):c.2135T>C (p.Met712Thr) SNV Pathogenic 6025 rs28937594 9:36217396-36217396 9:36217399-36217399
46 GNE NM_005476.7(GNE):c.1892C>T (p.Ala631Val) SNV Pathogenic 6035 rs62541771 9:36218221-36218221 9:36218224-36218224
47 SLC17A5 NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) SNV Pathogenic 440272 rs201284672 6:74331587-74331587 6:73621864-73621864
48 GNE NM_005476.7(GNE):c.737G>A (p.Arg246Gln) SNV Pathogenic 6030 rs121908629 9:36236861-36236861 9:36236864-36236864
49 GNE NM_005476.7(GNE):c.527A>T (p.Asp176Val) SNV Pathogenic 41233 rs139425890 9:36246117-36246117 9:36246120-36246120
50 SLC17A5 NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) SNV Pathogenic 5615 rs80338794 6:74354306-74354306 6:73644583-73644583

Expression for Free Sialic Acid Storage Disorders

Search GEO for disease gene expression data for Free Sialic Acid Storage Disorders.

GO Terms for Free Sialic Acid Storage Disorders

Sources for Free Sialic Acid Storage Disorders

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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