MCID: FRS004
MIFTS: 31

Free Sialic Acid Storage Disorders

Categories: 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 25
Free Sialic Acid Storage Disease 54 26 60 74
N-Acetylneuraminic Acid Storage Disease 54 26 74
Sialic Acid Storage Disease 54 26 56
Nana Storage Disease 54 26
Lysosomal Free Sialic Acid Storage Disorders 54
Sialic Acid Storage Disease, Finnish Type 74
Sialuria, Finnish Type 26
Sialuria 74

Characteristics:

Orphanet epidemiological data:

60
free sialic acid storage disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

25
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:



Summaries for Free Sialic Acid Storage Disorders

NIH Rare Diseases : 54 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.

MalaCards based summary : Free Sialic Acid Storage Disorders, also known as free sialic acid storage disease, is related to infantile free sialic acid storage 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 brain, testes and skin, and related phenotypes are nystagmus and intellectual disability

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:

# Related Disease Score Top Affiliating Genes
1 infantile free sialic acid storage disease 12.9
2 infantile sialic acid storage disease 12.2
3 sialuria 11.8
4 salla disease 10.4
5 lymphatic malformation 7 10.2
6 fetal edema 10.2
7 hydrops fetalis 10.2
8 cerebral palsy 10.1
9 agammaglobulinemia 10.1
10 oligohydramnios 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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
6 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
7 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
8 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
9 aplasia/hypoplasia of the abdominal wall musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0010318
10 abnormality of the foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001760
11 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
12 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
13 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
14 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
15 abnormal facial shape 60 33 frequent (33%) Frequent (79-30%) HP:0001999
16 ascites 60 33 frequent (33%) Frequent (79-30%) HP:0001541
17 reduced bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0004349
18 hydrops fetalis 60 33 frequent (33%) Frequent (79-30%) HP:0001789
19 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0001531
20 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
21 abnormality of skin pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0001000
22 abnormality of the upper limb 60 33 frequent (33%) Frequent (79-30%) HP:0002817
23 iris hypopigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007730
24 oculomotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0000657
25 athetosis 60 33 frequent (33%) Frequent (79-30%) HP:0002305
26 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
27 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
28 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
29 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
30 neurological speech impairment 60 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 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 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:

42
Brain, Testes, Skin, Bone

Publications for Free Sialic Acid Storage Disorders

Articles related to Free Sialic Acid Storage Disorders:

(show all 18)
# Title Authors Year
1
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. ( 30243016 )
2018
2
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder. ( 29875421 )
2018
3
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. ( 26076308 )
2015
4
Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. ( 20728092 )
2011
5
Free sialic acid storage disease without sialuria. ( 19557856 )
2009
6
Prenatal diagnosis of free sialic acid storage disorders (SASD). ( 16715535 )
2006
7
Varied mechanisms underlie the free sialic acid storage disorders. ( 15516337 )
2005
8
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. ( 15172001 )
2004
9
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. ( 15172005 )
2004
10
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. ( 12794688 )
2003
11
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. ( 12359136 )
2002
12
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. ( 11360275 )
2001
13
Clinical spectrum of infantile free sialic acid storage disease. ( 10069709 )
1999
14
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. ( 7573051 )
1995
15
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. ( 8198127 )
1994
16
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. ( 2363700 )
1990
17
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. ( 2768266 )
1989
18
Free sialic acid storage disease. A new Italian case. ( 3569361 )
1987

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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