Disorder "Hyperekplexia"
Found 1 record
Disorder information
Disorder name:
Hyperekplexia
Disoder ID:
Synonyms:
hereditary hyperekplexia, startle disease, congenital stiff man syndrome, familial startle disease, Kok disease
Definition:
A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered gene activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SLC6A5 | SLC6A5:rs121908496 | Expressivity | Altered gene activity | Gene activity study | SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na+ binding sites.more | more |
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