Details of Disease | DrugMAP

General Information of Disease (ID: DIS1L185)

Disease Name	X-linked complicated corpus callosum dysgenesis
Synonyms	X-linked complicated corpus callosum agenesis; X-linked partial corpus callosum agenesis; corpus callosum, partial agenesis of, X-linked; X-linked partial agenesis of corpus callosum; corpus callosum, partial agenesis of, X-linked recessive
Definition	X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
Disease Hierarchy	DISYKSRF: Genetic disease DISYPSZE: L1 syndrome DIS1L185: X-linked complicated corpus callosum dysgenesis
Disease Identifiers	MONDO ID MONDO_0010569 UMLS CUI C1839909 OMIM ID 304100 MedGen ID 374339 Orphanet ID 1497 SNOMED CT ID 1010630006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
L1CAM	TTC9D3K	Strong	Genetic Variation	[1]
L1CAM	TTC9D3K	Definitive	X-linked recessive	[2]
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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 recessive	[2]
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References

1	Expanding the phenotypic spectrum of L1CAM-associated disease.Clin Genet. 2006 May;69(5):414-9. doi: 10.1111/j.1399-0004.2006.00607.x.
2	[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome]. Rev Neurol. 2016 Mar 1;62(5):218-22.