MCID: INF047
MIFTS: 13

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 48 24
Infantile Sialic Acid Storage Disorder 48
Infantile Sialic Acid Storage Disease 68
 
Sialuria, Infantile Form 48
Issd 48

Classifications:



Summaries for Infantile Free Sialic Acid Storage Disease

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Wikipedia:71 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, infantile11.9
2free sialic acid storage disorders11.2

Symptoms & Phenotypes 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 Disease24

Anatomical Context for Infantile Free Sialic Acid Storage Disease

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet