Free Sialic Acid Storage Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FRS004 MIFTS: 31	Free Sialic Acid Storage Disorders Categories: Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of glycoprotein metabolism

Other disorders of glycoprotein metabolism

Orphanet: ⁶⁰

Rare neurological diseases

Inborn errors of metabolism

External Ids:

MESH via Orphanet ⁴⁶ C538523

ICD10 via Orphanet ³⁵ E77.8

UMLS via Orphanet ⁷⁵ C0342853 C2931872

Orphanet ⁶⁰ ORPHA834

SNOMED-CT via HPO ⁷⁰ 105985007 128613002 14648003 more

UMLS ⁷⁴ C0342853 C1096903 C2930923 more

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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

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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
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:

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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

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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

Azacitidine

Approved, Investigational

Not Applicable

320-67-2

9444

Synonyms:

2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one

320-67-2

4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one

4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz

4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one

4-amino-1-b-D-Ribofuranosyl-S-triazin-2(1H)-one

4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one

4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one

4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one

4-amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one

4-amino-1-beta-D-Ribofuranosyl-S-triazin-2(1H)-one

4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one

4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one

4-amino-1-β-D-ribofuranosyl-S-triazin-2(1H)-one

5 Azacytidine

5 AZC

5-AC

5AzaC

5-AZAC

5-azacitidine

5-aza-CR

5-azacytidine

5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine

5-AZCR

A 2385

A1287_SIGMA

A2385_SIGMA

AC1L1T1Y

Antibiotic U 18496

Azacitidina

Azacitidina [INN-Spanish]

Azacitidine

Azacitidine (JAN/USAN/INN)

Azacitidine [USAN:INN]

Azacitidinum

Azacitidinum [INN-Latin]

Azacytidine

BCBcMAP01_000083

BRN 0620461

BSPBio_003157

C11262

CCRIS 60

CHEBI:2038

CHEMBL1489

CID9444

cMAP_000082

CPD000857239

D001374

D03021

DB00928

DivK1c_000125

EINECS 206-280-2

EU-0100035

FT-0081170

HMS1921J22

HMS2092D08

HMS500G07

HSDB 6879

IDI1_000125

InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1

Jsp005945

KBio1_000125

KBio2_001742

KBio2_002556

KBio2_004310

KBio2_005124

KBio2_006878

KBio2_007692

KBio3_002657

KBio3_003034

KBioGR_001444

KBioGR_002556

KBioSS_001742

KBioSS_002565

Ladakamycin

Lopac0_000035

LS-1189

MLS001333121

MLS001333122

MLS002153249

MolMap_000062

mylo sar

Mylosar

NCGC00090851-01

NCGC00090851-02

NCGC00090851-03

NCGC00090851-04

NCGC00090851-08

NCGC00178234-01

NCI-C01569

NINDS_000125

NS-17

NSC 102816

NSC102816

NSC-102816

Pharmion brand OF azacitidine

Pharmion Brand of Azacitidine

pyrimidine antimetabolite: inhibits nucleic acid replication

S1782_Selleck

SAM002264595

SMR000857239

SPBio_000892

Spectrum_001262

SPECTRUM1502111

Spectrum2_000786

Spectrum3_001509

Spectrum4_000922

Spectrum5_001166

ST056940

s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)

TL80073599

U 18496

U-18496

UNII-M801H13NRU

Vidaza

Vidaza (TN)

wr 183027

WR-183027

ZINC03861768

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

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Genetic Tests for Free Sialic Acid Storage Disorders

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Anatomical Context for Free Sialic Acid Storage Disorders

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

⁴²

Brain, Testes, Skin, Bone

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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 )	?igman T...Bari? I	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 )	Zielonka M...Ries M	2018
3	Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. ( 26076308 )	Chock VY...Hintz SR	2015
4	Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. ( 20728092 )	Debray FG...Stevens R	2011
5	Free sialic acid storage disease without sialuria. ( 19557856 )	Mochel F...Schiffmann R	2009
6	Prenatal diagnosis of free sialic acid storage disorders (SASD). ( 16715535 )	Aula N...Aula P	2006
7	Varied mechanisms underlie the free sialic acid storage disorders. ( 15516337 )	Wreden CC...Reimer RJ	2005
8	Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. ( 15172001 )	Kleta R...Gahl WA	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 )	Landau D...Birk OS	2004
10	Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. ( 12794688 )	Kleta R...Gahl WA	2003
11	Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. ( 12359136 )	Aula N...Peltonen L	2002
12	Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. ( 11360275 )	Salom?ki P...Aula P	2001
13	Clinical spectrum of infantile free sialic acid storage disease. ( 10069709 )	Lemyre E...Lambert M	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 )	Schleutker J...Aula P	1995
15	The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. ( 8198127 )	Haataja L...Aula P	1994
16	Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. ( 2363700 )	Blom HJ...Gahl WA	1990
17	Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. ( 2768266 )	Tietze F...Gahl WA	1989
18	Free sialic acid storage disease. A new Italian case. ( 3569361 )	Fois A...Gerli R	1987

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Genes for Free Sialic Acid Storage Disorders

Genes related to Free Sialic Acid Storage Disorders (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC17A5	Solute Carrier Family 17 Member 5	Protein Coding	17.9	GeneCards inferred via : Publications (show sections)

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Variations for Free Sialic Acid Storage Disorders

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Expression for Free Sialic Acid Storage Disorders

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

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Pathways for Free Sialic Acid Storage Disorders

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GO Terms for Free Sialic Acid Storage Disorders

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Sources for Free Sialic Acid Storage Disorders

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