Details of Disease

General Information of Disease (ID: DISI7Y7F)

Disease Name Hereditary spastic paraplegia 17
Synonyms
spastic paraplegia 17, autosomal dominant; spastic paraplegia 17; BSCL2 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in BSCL2; autosomal dominant spastic paraplegia 17; dHMN5B; spastic paraplegia-amyotrophy of hands and feet; SPG17; spastic paraplegia with amyotrophy of hands and feet; Silver syndrome; hereditary spastic paraplegia type 17; autosomal dominant spastic paraplegia type 17; distal hereditary motor neuropathy type 5B; Silver spastic paraplegia syndrome
Definition Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DISISEB5: Autosomal dominant complex spastic paraplegia
DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant
DISI7Y7F: Hereditary spastic paraplegia 17
Disease Identifiers
MONDO ID
MONDO_0010043
MESH ID
C536644
UMLS CUI
C2931276
OMIM ID
270685
MedGen ID
419034
Orphanet ID
100998
SNOMED CT ID
230263009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GART TTEXB9Z Limited Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GARS1 OT5B6R9Y Limited Biomarker [1]
MAD2L1BP OT2O2IUJ Limited Biomarker [1]
SPAST OTIF3AJI Limited Biomarker [2]
BSCL2 OT73V6Y4 Strong Autosomal dominant [3]
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References

1 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.J Neurol Sci. 2007 Dec 15;263(1-2):100-6. doi: 10.1016/j.jns.2007.06.047. Epub 2007 Jul 30.
2 Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.Neurology. 2008 May 20;70(21):1959-66. doi: 10.1212/01.wnl.0000294330.27058.61. Epub 2008 Apr 9.
3 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ann Neurol. 2007 Mar;61(3):237-50. doi: 10.1002/ana.21070.