Details of Disease | DrugMAP

General Information of Disease (ID: DISXXWAE)

Disease Name	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Synonyms	ichthyosis, spastic quadriplegia, and intellectual disability; ISQMR; ichthyosis, spastic quadriplegia, and mental retardation; congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
Disease Hierarchy	DISPGGVL: Syndromic dyslipidemia DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISXXWAE: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Disease Identifiers	MONDO ID MONDO_0013760 UMLS CUI C3280856 OMIM ID 614457 MedGen ID 482486 Orphanet ID 352333 SNOMED CT ID 1208936008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELOVL4	OT2M9W26	Definitive	Autosomal recessive	[1]
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References

1	Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17.