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Salla Disease (SD)

Alias:
Sd
Sialic Acid Storage Disease, Finnish Type
Sialuria, Finnish Type
Finnish Type Sialuria
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Salla Disease, also known as sd, is related to sialic acid storage disease and free sialic acid storage disorders, and has symptoms including ataxia, athetosis and muscle spasticity. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways/superpathways is Senescence and autophagy in cancer. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
Related ID：
MALACARDS：SLL003
OMIM：604369

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
3
21
60
SLL003

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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