Details of Disease | DrugMAP

General Information of Disease (ID: DISZR0A4)

Disease Name	Cutis laxa, autosomal dominant 1
Synonyms	autosomal dominant cutis laxa 1; cutis laxa, autosomal dominant; autosomal dominant cutis laxa caused by mutation in ELN; cutis laxa, autosomal dominant type 1; ELN autosomal dominant cutis laxa; ADCL1; cutis laxa, autosomal dominant 1
Definition	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.
Disease Hierarchy	DIS2180B: Autosomal dominant cutis laxa DISZR0A4: Cutis laxa, autosomal dominant 1
Disease Identifiers	MONDO ID MONDO_0007411 UMLS CUI C3276539 OMIM ID 123700 MedGen ID 478169

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
ELN	OTFSO7PG	Definitive	Autosomal dominant	[1]
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References

1	New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1.