free sialic acid storage disease
Findings
No curated finding names free sialic acid storage disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0019366), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Frequent (30% to 79% of cases)
- AscitesHPOHP:0001541
- Frequent (30% to 79% of cases)
- AthetosisHPOHP:0002305
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC17A5HGNC:10933
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023