Details of Disease

General Information of Disease (ID: DIS8X71E)

Disease Name Pure hereditary spastic paraplegia
Synonyms uncomplicated HSP; uncomplicated familial spastic paraplegia; uncomplicated SPG; Pure HSP; uncomplicated hereditary spastic paraplegia; Pure SPG; Pure familial spastic paraplegia
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DIS8X71E: Pure hereditary spastic paraplegia
Disease Identifiers
MONDO ID
MONDO_0015149
UMLS CUI
C0393555
MedGen ID
581445
Orphanet ID
102012
SNOMED CT ID
230260007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KIF5A TTCJPAH Strong Biomarker [1]
PNPLA6 TTWAQU2 Strong Biomarker [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP7B1 DE36TMY Strong Genetic Variation [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATL1 OTR2788Y Strong Genetic Variation [4]
DDHD1 OTWTHOWK Strong Genetic Variation [5]
ERLIN2 OT551BVG Strong Genetic Variation [6]
KIF5B OTT34MT8 Strong Biomarker [1]
KIF5C OT35570Y Strong Biomarker [1]
SPAST OTIF3AJI Strong Genetic Variation [7]
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⏷ Show the Full List of 6 DOT(s)

References

1 Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2.
2 The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21.
3 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12.
4 Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.Genet Mol Res. 2015 Nov 23;14(4):14690-7. doi: 10.4238/2015.November.18.33.
5 Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.Eur J Med Genet. 2017 Dec;60(12):639-642. doi: 10.1016/j.ejmg.2017.08.015. Epub 2017 Aug 14.
6 A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.Eur J Neurol. 2018 Jul;25(7):943-e71. doi: 10.1111/ene.13625. Epub 2018 Apr 15.
7 SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.J Hum Genet. 2016 Oct;61(10):845-850. doi: 10.1038/jhg.2016.73. Epub 2016 Jun 23.