Details of Disease | DrugMAP

General Information of Disease (ID: DISUPBQE)

Disease Name	Autosomal recessive spastic paraplegia type 67
Synonyms	SPG67
Definition	Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DISUPBQE: Autosomal recessive spastic paraplegia type 67
Disease Identifiers	MONDO ID MONDO_0018419 UMLS CUI C4707829 MedGen ID 1644708 Orphanet ID 401820 SNOMED CT ID 766767001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PGAP1	OT1WQ55V	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.