Details of Disease

General Information of Disease (ID: DIS27S03)

• Disease Name: Autosomal recessive cutis laxa type 1
• Synonyms: autosomal recessive cutis laxa type I; cutis laxa, autosomal recessive type 1; cutis laxa, type 1; autosomal recessive cutis laxa type 1; autosomal recessive cutis laxa with severe systemic involvement; autosomal recessive cutis laxa, pulmonary emphysema type; ARCL1
• Definition: Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DIS0OJ0Q: Inherited cutis laxa
  DIS27S03: Autosomal recessive cutis laxa type 1

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFEMP2	OT0I2B4J	Supportive	Autosomal recessive	[1]
FBLN5	OTLVNZ8U	Supportive	Autosomal recessive	[2]

References

• [1] Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78(6):1075-80. doi: 10.1086/504304. Epub 2006 Apr 10.
• [2] Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13.