General Information of Disease (ID: DISUKJK8)

Disease Name X-linked complicated spastic paraplegia type 1
Synonyms SPG1
Definition An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.
Disease Hierarchy
DISHZGSA: X-linked recessive disease
DISYPSZE: L1 syndrome
DISUKJK8: X-linked complicated spastic paraplegia type 1
Disease Identifiers
MONDO ID
MONDO_0017630
UMLS CUI
C5779711
MedGen ID
1843445

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
L1CAM TTC9D3K Supportive X-linked [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
L1CAM OTNWAQ4Y Supportive X-linked [1]
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References

1 L1 Syndrome. 2004 Apr 28 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.