MCID: FRS004
MIFTS: 31

Free Sialic Acid Storage Disorders

Categories: Liver diseases, Metabolic 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 24
Free Sialic Acid Storage Disease 53 25 59 72
N-Acetylneuraminic Acid Storage Disease 53 25 72
Sialic Acid Storage Disease 53 25 55
Nana Storage Disease 53 25
Lysosomal Free Sialic Acid Storage Disorders 53
Sialic Acid Storage Disease, Finnish Type 72
Sialuria, Finnish Type 25
Sialuria 72

Characteristics:

Orphanet epidemiological data:

59
free sialic acid storage disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

24
Penetrance Free sialic acid storage disorders seem to be fully penetrant. however, mochel et al [2009] reported a case of 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:



External Ids:

MESH via Orphanet 45 C538523
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 73 C0342853 C2931872
Orphanet 59 ORPHA834
UMLS 72 C0342853 C1096903 C2930923 more

Summaries for Free Sialic Acid Storage Disorders

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. 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 salla disease 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). The drug Azacitidine has been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver, and related phenotypes are nystagmus and intellectual disability

NIH Rare Diseases : 53 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 59)
# Related Disease Score Top Affiliating Genes
1 salla disease 10.5
2 infantile sialic acid storage disease 10.4
3 sialuria 10.3
4 ataxia and polyneuropathy, adult-onset 10.2
5 neuraminidase deficiency 10.2
6 mucopolysaccharidosis-plus syndrome 10.2
7 dysostosis 10.2
8 lysosomal storage disease with skeletal involvement 10.2
9 leukodystrophy 10.2
10 fetal edema 10.2
11 hydrops fetalis 10.2
12 hypotonia 10.2
13 aspartylglucosaminuria 10.2
14 mucolipidosis 10.2
15 glycoproteinosis 10.2
16 galactosialidosis 10.1
17 inherited metabolic disorder 10.1
18 lysosomal storage disease 10.1
19 athetosis 10.1
20 infantile free sialic acid storage disease 10.1
21 intermediate severe salla disease 10.1
22 spasticity 10.1
23 strabismus 10.1
24 tracheoesophageal fistula with or without esophageal atresia 10.1
25 esophageal atresia 10.1
26 hemopericardium 10.1
27 pericardial effusion 10.1
28 nephrotic syndrome 10.1
29 cerebral palsy 10.1
30 agammaglobulinemia 10.1
31 mechanical strabismus 10.1
32 posttransplant acute limbic encephalitis 10.1
33 hypertelorism 10.0
34 laryngomalacia 10.0
35 gastroschisis 10.0
36 glycogen storage disease ii 10.0
37 nephrosialidosis 10.0
38 3-methylglutaconic aciduria, type iii 10.0
39 aceruloplasminemia 10.0
40 alacrima, achalasia, and mental retardation syndrome 10.0
41 pulmonary hypertension 10.0
42 autosomal recessive disease 10.0
43 inguinal hernia 10.0
44 bone disease 10.0
45 cystinosis 10.0
46 spastic quadriplegia 10.0
47 respiratory failure 10.0
48 oligohydramnios 10.0
49 locked-in syndrome 10.0
50 quadriplegia 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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
7 abnormal pyramidal sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
10 abnormality of the foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001760
11 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
12 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
13 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
14 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
15 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
16 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
17 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
18 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
19 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
20 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
21 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
22 abnormality of the upper limb 59 32 frequent (33%) Frequent (79-30%) HP:0002817
23 iris hypopigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007730
24 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
25 athetosis 59 32 frequent (33%) Frequent (79-30%) HP:0002305
26 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
27 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
28 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
29 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
30 neurological speech impairment 59 Frequent (79-30%)

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:

41
Bone, Brain, Liver, Heart, Testes, Spleen, Skin

Publications for Free Sialic Acid Storage Disorders

Articles related to Free Sialic Acid Storage Disorders:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Varied mechanisms underlie the free sialic acid storage disorders. 38 4 71
15516337 2005
2
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. 38 4 71
12794688 2003
3
Clinical spectrum of infantile free sialic acid storage disease. 38 4 71
10069709 1999
4
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. 4 71
16170568 2005
5
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. 4 71
12794687 2003
6
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. 4 71
10947946 2000
7
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 4 71
10581036 1999
8
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. 4 71
2010546 1991
9
Free Sialic Acid Storage Disorders 38 71
20301643 2003
10
Infantile sialic acid storage disease: biochemical studies. 38 71
7573152 1995
11
Free sialic acid storage disease without sialuria. 38 4
19557856 2009
12
Prenatal diagnosis of free sialic acid storage disorders (SASD). 38 4
16715535 2006
13
Functional characterization of wild-type and mutant human sialin. 71
15510212 2004
14
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. 38 4
15172001 2004
15
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. 38 4
15172005 2004
16
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. 38 4
15635485 2004
17
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. 38 4
12359136 2002
18
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. 71
12121352 2002
19
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. 38 4
11992753 2002
20
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. 38 4
11360275 2001
21
Hydrops fetalis: lysosomal storage disorders in extremis. 38 4
10645471 1999
22
Sialic acid storage disease. 71
2334213 1990
23
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. 71
7151835 1982
24
The inborn errors of sialic acid metabolism and their laboratory investigation. 4
16584062 2006
25
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 4
15805149 2005
26
Neurocognitive profiles in Salla disease. 4
15581157 2004
27
Cerebellar white matter involvement in Salla disease. 4
15179531 2004
28
Sialin expression in the CNS implicates extralysosomal function in neurons. 4
15006695 2004
29
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease. 4
14684624 2004
30
Two cases of Salla disease in Danish children. 4
14696864 2003
31
A case of Salla disease with involvement of the cerebellar white matter. 4
12592494 2003
32
Free sialic acid storage (Salla) disease in Sweden. 4
12578289 2002
33
Multiple neuroendocrine disorder in Salla disease. 4
11669356 2001
34
Clinical course and biochemistry of sialuria. 4
11486897 2001
35
Dominant inheritance of sialuria, an inborn error of feedback inhibition. 4
11326336 2001
36
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. 4
10891913 2000
37
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 4
10330343 1999
38
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. 4
10356312 1999
39
Brain involvement in Salla disease. 4
10219409 1999
40
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. 4
3961501 1986
41
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. 4
6681560 1983
42
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder. 38
29875421 2019
43
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. 38
30243016 2018
44
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease. 38
28662915 2017
45
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. 38
26076308 2015
46
Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. 38
20728092 2011
47
G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking. 38
17933575 2007
48
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. 38
7573051 1995
49
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. 38
8198127 1994
50
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. 38
1505579 1992

Variations for Free Sialic Acid Storage Disorders

Expression for Free Sialic Acid Storage Disorders

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

Pathways for Free Sialic Acid Storage Disorders

GO Terms for Free Sialic Acid Storage Disorders

Sources for Free Sialic Acid Storage Disorders

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10 dbSNP
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17 EFO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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