Disorder "Free Sialic Acid Storage Disease"
Found 1 record
Disorder information
Disorder name:
Free Sialic Acid Storage Disease 
Disoder ID:
OMIM entry:
Synonyms:
free sialic acid storage disease 
Definition:
Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
SLC17A5 SLC17A5:c.983G>A(p.Gly328Glu) Expressivity  Altered severity  Pedigree analysis  A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.more more
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