ISSD
MCID: INF047
MIFTS: 17

Infantile Free Sialic Acid Storage Disease (ISSD)

Categories: Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

MalaCards integrated aliases for Infantile Free Sialic Acid Storage Disease:

Name: Infantile Free Sialic Acid Storage Disease 52
Infantile Sialic Acid Storage Disorder 52
Infantile Sialic Acid Storage Disease 71
Sialuria, Infantile Form 52
Issd 52

Classifications:



External Ids:

UMLS 71 C1096902

Summaries for Infantile Free Sialic Acid Storage Disease

MalaCards based summary : Infantile Free Sialic Acid Storage Disease, also known as infantile sialic acid storage disorder, is related to free sialic acid storage disorders and infantile sialic acid storage disease, and has symptoms including seizures An important gene associated with Infantile Free Sialic Acid Storage Disease is SLC17A5 (Solute Carrier Family 17 Member 5). The drugs Citalopram and Neurotransmitter Agents have been mentioned in the context of this disorder.

Related Diseases for Infantile Free Sialic Acid Storage Disease

Diseases in the Free Sialic Acid Storage Disorders family:

Infantile Free Sialic Acid Storage Disease

Diseases related to Infantile Free Sialic Acid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 free sialic acid storage disorders 12.1
2 infantile sialic acid storage disease 12.0
3 sialuria 11.5
4 salla disease 10.4
5 hydrops fetalis, nonimmune 10.1
6 esophageal atresia 10.1
7 hemopericardium 10.1
8 pericardial effusion 10.1
9 nephrotic syndrome 10.1
10 dysostosis 10.1
11 agammaglobulinemia 10.1
12 lysosomal storage disease 10.1
13 intermediate severe salla disease 10.1
14 lysosomal storage disease with skeletal involvement 10.1
15 3-methylglutaconic aciduria, type iii 10.1
16 ataxia and polyneuropathy, adult-onset 10.1
17 mucopolysaccharidosis-plus syndrome 10.1
18 cystinosis 10.1
19 spasticity 10.1

Graphical network of the top 20 diseases related to Infantile Free Sialic Acid Storage Disease:



Diseases related to Infantile Free Sialic Acid Storage Disease

Symptoms & Phenotypes for Infantile Free Sialic Acid Storage Disease

UMLS symptoms related to Infantile Free Sialic Acid Storage Disease:


seizures

Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

Drugs for Infantile Free Sialic Acid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved 59729-33-8 2771
2 Neurotransmitter Agents
3 Antidepressive Agents
4 Psychotropic Drugs
5 Serotonin Uptake Inhibitors
6 Quetiapine Fumarate 111974-72-2
7 Antipsychotic Agents
8
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Interest of a Specific Combined Treatment (Psychotherapy and Pharmacotherapy) in Patients With Dissociative Disorders Unknown status NCT00630981 Pharmacological treatment (Quetiapine and/or Escitalopram)
2 Acute Defibrillation Performance of a Novel Can-less Shock Pathway Completed NCT02941250
3 Surface ECG Signal Recording for the Implantable Subcutaneous String Defibrillator (ISSD) Detection Algorithm Performance Assessment Completed NCT03408951
4 Surface Electrocardiogram (ECG) Signal Recording for Implantable Subcutaneous String Defibrillator (ISSD) Development Completed NCT02991716

Search NIH Clinical Center for Infantile Free Sialic Acid Storage Disease

Genetic Tests for Infantile Free Sialic Acid Storage Disease

Anatomical Context for Infantile Free Sialic Acid Storage Disease

Publications for Infantile Free Sialic Acid Storage Disease

Articles related to Infantile Free Sialic Acid Storage Disease:

(show all 12)
# Title Authors PMID 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. 61
30243016 2018
2
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease. 61
28662915 2017
3
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. 61
26076308 2015
4
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. 61
15172001 2004
5
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. 61
15635485 2004
6
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. 61
12794688 2003
7
Free Sialic Acid Storage Disorders 61
20301643 2003
8
Clinical spectrum of infantile free sialic acid storage disease. 61
10069709 1999
9
Hydrops fetalis: lysosomal storage disorders in extremis. 61
10645471 1999
10
Infantile sialic acid storage disease: biochemical studies. 61
7573152 1995
11
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. 61
2363700 1990
12
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. 61
2768266 1989

Variations for Infantile Free Sialic Acid Storage Disease

Expression for Infantile Free Sialic Acid Storage Disease

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

Pathways for Infantile Free Sialic Acid Storage Disease

GO Terms for Infantile Free Sialic Acid Storage Disease

Sources for Infantile Free Sialic Acid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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