MCID: FRS004
MIFTS: 33

Free Sialic Acid Storage Disorders

Categories: Rare diseases, Neuronal diseases, Metabolic 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 73
N-Acetylneuraminic Acid Storage Disease 53 25 73
Sialic Acid Storage Disease 53 25 55
Nana Storage Disease 53 25
Sialic Acid Storage Disease, Finnish Type 73
Sialuria, Finnish Type 25
Sialuria 73

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:



Summaries for Free Sialic Acid Storage Disorders

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 834Disease definitionFree sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).Visit the Orphanet disease page for more resources.

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), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include skin, bone and brain, and related phenotypes are proteinuria and nephrotic syndrome

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.

GeneReviews: NBK1470

Related Diseases for Free Sialic Acid Storage Disorders

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 12.6
2 infantile sialic acid storage disease 12.0
3 salla disease 11.6
4 sialuria 9.0 GNE SLC17A5

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency Recruiting 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:

41
Skin, Bone, Brain

Publications for Free Sialic Acid Storage Disorders

Articles related to Free Sialic Acid Storage Disorders:

(show all 20)
# Title Authors Year
1
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. ( 26076308 )
2015
2
Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. ( 20728092 )
2011
3
Free sialic acid storage disease without sialuria. ( 19557856 )
2009
4
Prenatal diagnosis of free sialic acid storage disorders (SASD). ( 16715535 )
2006
5
Varied mechanisms underlie the free sialic acid storage disorders. ( 15516337 )
2005
6
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. ( 15172001 )
2004
7
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
8
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. ( 12794688 )
2003
9
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. ( 12359136 )
2002
10
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. ( 11992753 )
2002
11
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. ( 11360275 )
2001
12
The spectrum of SLC17A5-gene mutations resulting in free sialic acid- storage diseases indicates some genotype-phenotype correlation. ( 10947946 )
2000
13
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). ( 9935050 )
1999
14
Clinical spectrum of infantile free sialic acid storage disease. ( 10069709 )
1999
15
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
16
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. ( 8198127 )
1994
17
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. ( 7885532 )
1994
18
Free Sialic Acid Storage Disorders ( 20301643 )
1993
19
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. ( 2363700 )
1990
20
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. ( 2768266 )
1989

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.

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 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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