Disorder "Hereditary spastic paraplegia"
Found 2 records
Disorder information
Disorder name:
Hereditary spastic paraplegia
Disoder ID:
OMIM entry:
Synonyms:
French settlement disease, familial spastic paraplegia, Strumpell-Lorrain disease, hereditary spastic paraparesis
Definition:
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(1)
,Penetrance(1)
Modifier effect:
Altered incidence(1)
,Altered phenotype(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SPAST | SPAST:rs121908517 | Expressivity | Altered phenotype | Pedigree analysis | modify the HSP phenotypemore | more |
| HSPD1 | HSPD1:rs41265953 | Penetrance | Altered incidence | Pedigree analysis | PLN may act as a genetic modifier of hereditary spastic paraparesismore | more |
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