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 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
Lysosomal Free Sialic Acid Storage Disorders 53
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). Affiliated tissues include skin and bone, 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 12.7
2 infantile sialic acid storage disease 12.2
3 salla disease 11.8
4 sialuria 11.7
5 hydrops fetalis, nonimmune, and/or atrial septal defect 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:

59 32 (show all 31)
# 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 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
7 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
8 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
11 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
12 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
13 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
14 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
15 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
16 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
17 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
18 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
19 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
20 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
21 abnormality of the foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001760
22 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
23 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
24 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
25 abnormality of the upper limb 59 32 frequent (33%) Frequent (79-30%) HP:0002817
26 iris hypopigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007730
27 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
28 athetosis 59 32 frequent (33%) Frequent (79-30%) HP:0002305
29 neurological speech impairment 59 Frequent (79-30%)
30 abnormal pyramidal signs 59 Very frequent (99-80%)
31 abnormal pyramidal sign 32 hallmark (90%) HP:0007256

UMLS symptoms related to Free Sialic Acid Storage Disorders:


seizures, ataxia, athetosis, muscle spasticity

Drugs & Therapeutics for Free Sialic Acid Storage Disorders

Search Clinical Trials , 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

Publications for Free Sialic Acid Storage Disorders

Articles related to Free Sialic Acid Storage Disorders:

(show all 19)
# 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
Free Sialic Acid Storage Disorders ( 20301643 )
1993
17
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. ( 2363700 )
1990
18
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. ( 2768266 )
1989
19
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 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
Content
Loading form....