MCID: INF047
MIFTS: 12

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 49
Infantile Sialic Acid Storage Disorder 49
Infantile Sialic Acid Storage Disease 69
Sialuria, Infantile Form 49
Issd 49

Classifications:



External Ids:

UMLS 69 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).

Wikipedia : 72 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease Occurs when a sialic... more...

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 11.5
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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