MCID: INF047
MIFTS: 11

Infantile Free Sialic Acid Storage Disease

Categories: 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 53
Infantile Sialic Acid Storage Disorder 53
Infantile Sialic Acid Storage Disease 73
Sialuria, Infantile Form 53
Issd 53

Classifications:



External Ids:

UMLS 73 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).

Related Diseases for 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:

# Related Disease Score Top Affiliating Genes
1 free sialic acid storage disorders 11.8
2 infantile sialic acid storage disease 11.3

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

Search Clinical Trials , 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:

# Title Authors Year
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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