Details of Disease

General Information of Disease (ID: DIS0TD1L)

Disease Name Hereditary spastic paraplegia 2
Synonyms
spastic paraplegia 2, X-linked; Sppx2; spastic paraplegia 2; SPG2; hereditary spastic paraplegia caused by mutation in PLP1; spastic paraparesis type 2; X-linked spastic paraplegia 2; spastic paraplegia 2, X-linked, X-linked recessive; spastic paraplegia type 2; X-linked spastic paraplegia type 2; hereditary spastic paraplegia type 2; PLP1 hereditary spastic paraplegia; spastic gait type 2
Definition
Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISGZQV1: Hereditary spastic paraplegia
DIS0TD1L: Hereditary spastic paraplegia 2
Disease Identifiers
MONDO ID
MONDO_0010733
MESH ID
C536857
UMLS CUI
C1839264
OMIM ID
312920
MedGen ID
374177
Orphanet ID
99015
SNOMED CT ID
723622007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDXP TT9UYG4 Disputed Genetic Variation [1]
PRDX5 TTLPJWH Disputed Genetic Variation [1]
GJC2 TTPOCAL Definitive Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTHLH OTI1JF13 Disputed Genetic Variation [1]
AP4B1 OTGJUIRA Definitive Genetic Variation [3]
AP4M1 OT2BG2Z3 Definitive Genetic Variation [3]
PLP1 OT8CM9CX Definitive X-linked [4]
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References

1 A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.Brain Dev. 2009 Mar;31(3):248-51. doi: 10.1016/j.braindev.2008.08.001. Epub 2008 Sep 9.
2 Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15.
3 Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18.
4 X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381.