ISSD
MCID: INF047
MIFTS: 12

Infantile Free Sialic Acid Storage Disease (ISSD) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

Aliases & Descriptions for Infantile Free Sialic Acid Storage Disease:

Name: Infantile Free Sialic Acid Storage Disease 50 24
Infantile Sialic Acid Storage Disorder 50
Infantile Sialic Acid Storage Disease 69
Sialuria, Infantile Form 50
Issd 50

Classifications:



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 sialic acid storage disorder, infantile and free sialic acid storage disorders, 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 : 71 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when 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:

id Related Disease Score Top Affiliating Genes
1 sialic acid storage disorder, infantile 11.9
2 free sialic acid storage disorders 11.2

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

Genetic tests related to Infantile Free Sialic Acid Storage Disease:

id Genetic test Affiliating Genes
1 Infantile Free Sialic Acid Storage Disease 24

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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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