MCID: INF047
MIFTS: 14

Infantile Free Sialic Acid Storage Disease malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

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Aliases & Descriptions for Infantile Free Sialic Acid Storage Disease:

Name: Infantile Free Sialic Acid Storage Disease 46 23
Infantile Sialic Acid Storage Disorder 46
Infantile Sialic Acid Storage Disease 66
 
Sialuria, Infantile Form 46
Issd 46

Classifications:



Summaries for Infantile Free Sialic Acid Storage Disease

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Wikipedia:69 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, and has symptoms including hepatomegaly and seizures. An important gene associated with Infantile Free Sialic Acid Storage Disease is SLC17A5 (Solute Carrier Family 17 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, infantile11.7
2free sialic acid storage disorders10.4

Symptoms for Infantile Free Sialic Acid Storage Disease

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UMLS symptoms related to Infantile Free Sialic Acid Storage Disease:


hepatomegaly, seizures

Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

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Interventional clinical trials:

Search ClinicalTrials, 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 Disease23

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
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. (26076308)
2015
2
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. (12794688)
2003
3
Clinical spectrum of infantile free sialic acid storage disease. (10069709)
1999
4
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. (2363700)
1990
5
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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GO Terms for genes affiliated with Infantile Free Sialic Acid Storage Disease

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Sources for Infantile Free Sialic Acid Storage Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet