Details of Disease | DrugMAP

General Information of Disease (ID: DIS2180B)

Disease Name	Autosomal dominant cutis laxa
Synonyms	ADCL; cutis laxa, autosomal dominant
Definition	Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DIS0OJ0Q: Inherited cutis laxa DIS2180B: Autosomal dominant cutis laxa
Disease Identifiers	MONDO ID MONDO_0019571 MESH ID C562627 UMLS CUI C0268350 MedGen ID 120630 Orphanet ID 90348 SNOMED CT ID 111388003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Supportive	Autosomal dominant	[1]
ELN	OTFSO7PG	Supportive	Autosomal dominant	[2]
FBLN5	OTLVNZ8U	Supportive	Autosomal dominant	[3]
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References

1	Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.
2	Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006 Mar;43(3):255-8. doi: 10.1136/jmg.2005.034157. Epub 2005 Aug 5.
3	Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004. doi: 10.1086/373940. Epub 2003 Feb 28.