Details of Disease | DrugMAP

General Information of Disease (ID: DIS2GJOK)

Disease Name	Cutis laxa, autosomal dominant 2
Synonyms	ADCL2; FBLN5 autosomal dominant cutis laxa; autosomal dominant cutis laxa caused by mutation in FBLN5; cutis laxa, autosomal dominant 2; cutis laxa, autosomal dominant type 2; autosomal dominant cutis laxa 2
Definition	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.
Disease Hierarchy	DIS2180B: Autosomal dominant cutis laxa DIS2GJOK: Cutis laxa, autosomal dominant 2
Disease Identifiers	MONDO ID MONDO_0013751 UMLS CUI C3280794 OMIM ID 614434 MedGen ID 482424

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
FBLN5	OTLVNZ8U	Definitive	Autosomal dominant	[1]
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References

1	Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem. 1999 Jan 8;274(2):981-6. doi: 10.1074/jbc.274.2.981.