MCID: INF047
MIFTS: 14

Infantile Free Sialic Acid Storage Disease malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

About this section
Sources:
45NIH Rare Diseases, 22GeneTests, 47Novoseek, 65UMLS
See all sources

Aliases & Descriptions for Infantile Free Sialic Acid Storage Disease:

Name: Infantile Free Sialic Acid Storage Disease 45 22
Infantile Sialic Acid Storage Disease 47 65
Infantile Sialic Acid Storage Disorder 45
 
Sialuria, Infantile Form 45
Issd 45


Classifications:



Summaries for Infantile Free Sialic Acid Storage Disease

About this section
Wikipedia:68 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when sialic... more...

MalaCards based summary: Infantile Free Sialic Acid Storage Disease, also known as infantile sialic acid storage disease, is related to sialic acid storage disorder, infantile and free sialic acid storage disorders. An important gene associated with Infantile Free Sialic Acid Storage Disease is SLC17A5 (Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5).

Related Diseases for Infantile Free Sialic Acid Storage Disease

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1sialic acid storage disorder, infantile10.6
2free sialic acid storage disorders10.4
3sialuria10.4
4salla disease10.2
5free sialic acid storage disease, infantile form10.1

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



Diseases related to infantile free sialic acid storage disease

Symptoms for Infantile Free Sialic Acid Storage Disease

About this section

Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Infantile Free Sialic Acid Storage Disease

Genetic Tests for Infantile Free Sialic Acid Storage Disease

About this section

Genetic tests related to Infantile Free Sialic Acid Storage Disease:

id Genetic test Affiliating Genes
1 Infantile Free Sialic Acid Storage Disease22

Anatomical Context for Infantile Free Sialic Acid Storage Disease

About this section

Animal Models for Infantile Free Sialic Acid Storage Disease or affiliated genes

About this section

Publications for Infantile Free Sialic Acid Storage Disease

About this section

Articles related to Infantile Free Sialic Acid Storage Disease:

idTitleAuthorsYear
1
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. (12794688)
2003
2
Clinical spectrum of infantile free sialic acid storage disease. (10069709)
1999
3
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. (2363700)
1990
4
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 Infantile Free Sialic Acid Storage Disease

About this section

Expression for genes affiliated with Infantile Free Sialic Acid Storage Disease

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

Pathways for genes affiliated with Infantile Free Sialic Acid Storage Disease

About this section

GO Terms for genes affiliated with Infantile Free Sialic Acid Storage Disease

About this section

Sources for Infantile Free Sialic Acid Storage Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet