Details of Disease | DrugMAP

General Information of Disease (ID: DIS436G5)

Disease Name	Hereditary spastic paraplegia 15
Synonyms	recessive spastic paraplegia with retinal degeneration; spastic paraplegia 15, autosomal recessive; spastic paraplegia and retinal Degeneration; spastic paraplegia 15; spastic paraplegia and retinal degeneration; hereditary spastic paraparesis type 15; Kjellin syndrome; autosomal recessive spastic paraplegia type 15; hereditary spastic paraplegia 15; ZFYVE26 autosomal recessive complex spastic paraplegia; autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26; spastic paraplegia-retinal degeneration syndrome; autosomal recessive spastic paraplegia 15; hereditary spastic paraplegia type 15; SPG15
Definition	Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DIS436G5: Hereditary spastic paraplegia 15
Disease Identifiers	MONDO ID MONDO_0010044 MESH ID C536642 UMLS CUI C1849128 OMIM ID 270700 MedGen ID 341387 Orphanet ID 100996 SNOMED CT ID 764686003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZFYVE26	OT7L9RGL	Definitive	Autosomal recessive	[1]
SPG11	OTZ7LJX4	Limited	Genetic Variation	[2]
SPAST	OTIF3AJI	Definitive	Biomarker	[3]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.Ophthalmology. 2011 Mar;118(3):564-73. doi: 10.1016/j.ophtha.2010.07.024. Epub 2010 Oct 29.
3	Hereditary spastic paraparesis and psychosis.Eur J Neurol. 2006 Aug;13(8):874-9. doi: 10.1111/j.1468-1331.2006.01379.x.