Details of Disease

General Information of Disease (ID: DIS4A678)

Disease Name Hereditary spastic paraplegia 7
Synonyms
spastic paraplegia 7; hereditary spastic paraplegia paraplegin type; spastic paraplegia 7, autosomal recessive; autosomal recessive spastic paraplegia 7; spastic paraplegia type 7; hereditary spastic paraplegia 7; SPG7; hereditary spastic paraplegia caused by mutation in SPG7; SPG7 hereditary spastic paraplegia; hereditary spastic paraplegia type 7
Definition
Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.
Disease Hierarchy
DIS6JNI3: Hereditary ataxia
DISGZQV1: Hereditary spastic paraplegia
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DIS4A678: Hereditary spastic paraplegia 7
Disease Identifiers
MONDO ID
MONDO_0011803
UMLS CUI
C1846564
OMIM ID
607259
MedGen ID
339552
Orphanet ID
99013

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP7B1 DE36TMY moderate Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
REEP1 OTEMVFX7 moderate Biomarker [2]
SPG11 OTZ7LJX4 moderate Genetic Variation [3]
AFG3L2 OTRPMAUX Strong Genetic Variation [4]
SPG7 OT8OY9ST Definitive Autosomal recessive [5]
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References

1 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13.
2 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.
3 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1.
4 Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.Hum Mutat. 2018 Dec;39(12):2060-2071. doi: 10.1002/humu.23658. Epub 2018 Oct 10.
5 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.