Details of Disease

General Information of Disease (ID: DISGQU26)

Disease Name Hereditary spastic paraplegia 45
Synonyms
spastic paraplegia 45, autosomal recessive; autosomal recessive complex spastic paraplegia caused by mutation in NT5C2; autosomal recessive spastic paraplegia 45; autosomal recessive spastic paraplegia type 45; NT5C2 autosomal recessive complex spastic paraplegia; SPG45; autosomal recessive spastic paraplegia type 65; SPG65; hereditary spastic paraplegia type 45
Definition
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
Disease Hierarchy
DIS9KXQY: Complex hereditary spastic paraplegia
DISGQU26: Hereditary spastic paraplegia 45
Disease Identifiers
MONDO ID
MONDO_0013165
UMLS CUI
C3888209
OMIM ID
613162
MedGen ID
854816
Orphanet ID
320396
SNOMED CT ID
765753004

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
NT5C2 DE1DOKJ Limited Biomarker [1]
NT5C2 DE1DOKJ Strong Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFT122 OTSK3OAD Strong Biomarker [1]
NT5C2 OTJMF66Z Strong Autosomal recessive [2]
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References

1 NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.BMC Med Genet. 2017 Mar 21;18(1):33. doi: 10.1186/s12881-017-0395-6.
2 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.