Details of Disease

General Information of Disease (ID: DISD8CPV)

Disease Name Hereditary spastic paraplegia 12
Synonyms
spastic paraplegia 12; spastic paraplegia 12, autosomal dominant; SPG12; RTN2 hereditary spastic paraplegia; autosomal dominant spastic paraplegia 12; hereditary spastic paraplegia caused by mutation in RTN2; autosomal dominant spastic paraplegia type 12; hereditary spastic paraplegia type 12
Definition
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DIS8X71E: Pure hereditary spastic paraplegia
DISD8CPV: Hereditary spastic paraplegia 12
Disease Identifiers
MONDO ID
MONDO_0011489
MESH ID
C537484
UMLS CUI
C1858106
OMIM ID
604805
MedGen ID
347618
Orphanet ID
100993
SNOMED CT ID
763374004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UBAP1 OTTW6B2G Supportive Autosomal dominant [1]
RTN2 OTTZ5FW0 Strong Autosomal dominant [2]
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References

1 Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. Eur J Hum Genet. 2020 Dec;28(12):1763-1768. doi: 10.1038/s41431-020-00720-w. Epub 2020 Sep 15.
2 Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology. 2002 Nov 12;59(9):1395-401. doi: 10.1212/01.wnl.0000031423.43482.19.