Details of Disease | DrugMAP

General Information of Disease (ID: DIS4WP0I)

Disease Name	Hereditary spastic paraplegia 77
Synonyms	autosomal recessive spastic paraplegia type 77; SPG77; spastic paraplegia 77, autosomal recessive; hereditary spastic paraplegia caused by mutation in FARS2; hereditary spastic paraplegia type 77; FARS2 hereditary spastic paraplegia; autosomal recessive spastic paraplegia 77
Definition	Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS4WP0I: Hereditary spastic paraplegia 77
Disease Identifiers	MONDO ID MONDO_0014882 UMLS CUI C5569007 OMIM ID 617046 MedGen ID 1800430 Orphanet ID 466722 SNOMED CT ID 1187506008

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
FARS2	DE0WGR8	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FARS2	OTXAK6F0	Strong	Autosomal recessive	[1]
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References

1	A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. Hum Mutat. 2016 Feb;37(2):165-9. doi: 10.1002/humu.22930. Epub 2015 Dec 10.