Details of Disease | DrugMAP

General Information of Disease (ID: DIS8SGWX)

Disease Name	Autosomal recessive spastic paraplegia type 70
Synonyms	SPG70
Definition	Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DIS8SGWX: Autosomal recessive spastic paraplegia type 70
Disease Identifiers	MONDO ID MONDO_0018422 UMLS CUI C4749431 OMIM ID 620323 MedGen ID 1655287 Orphanet ID 401835 SNOMED CT ID 770724001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS1	DE0K52I	Supportive	Autosomal recessive	[1]
MARS1	DE0K52I	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MARS1	OTLJ6MHJ	Supportive	Autosomal recessive	[1]
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References

1	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.