MCID: INF047
MIFTS: 13

Infantile Free Sialic Acid Storage Disease malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

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Infantile Free Sialic Acid Storage Disease, Aliases & Descriptions:

Name: Infantile Free Sialic Acid Storage Disease 41 20
Infantile Sialic Acid Storage Disorder 41
Infantile Sialic Acid Storage Disease 60
 
Sialuria, Infantile Form 41
Issd 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Summaries for Infantile Free Sialic Acid Storage Disease

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Wikipedia:63 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 disorder, 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

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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, infantile10.5
2free sialic acid storage disorders10.4
3salla disease10.2
4free sialic acid storage disease, infantile form10.1

Symptoms for Infantile Free Sialic Acid Storage Disease

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Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

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Drug clinical trials:

Search ClinicalTrials for Infantile Free Sialic Acid Storage Disease

Search NIH Clinical Center for Infantile Free Sialic Acid Storage Disease

Genetic Tests for Infantile Free Sialic Acid Storage Disease

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Genetic tests related to Infantile Free Sialic Acid Storage Disease:

id Genetic test Affiliating Genes
1 Infantile Free Sialic Acid Storage Disease20

Anatomical Context for Infantile Free Sialic Acid Storage Disease

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

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Publications for Infantile Free Sialic Acid Storage Disease

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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

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Expression for genes affiliated with Infantile Free Sialic Acid Storage Disease

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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

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Compounds for genes affiliated with Infantile Free Sialic Acid Storage Disease

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

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Products for genes affiliated with Infantile Free Sialic Acid Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Infantile Free Sialic Acid Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet