Details of Disease | DrugMAP

General Information of Disease (ID: DISYPSZE)

Disease Name	L1 syndrome
Synonyms	L1 syndrome; CRASH syndrome; L1CAM syndrome; corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
Definition	L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISYPSZE: L1 syndrome
Disease Identifiers	MONDO ID MONDO_0017140 UMLS CUI C5779710 MedGen ID 1830362 Orphanet ID 275543 SNOMED CT ID 716996008

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	Definitive	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	Definitive	X-linked	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.