Details of Disease

General Information of Disease (ID: DISTXM91)

• Disease Name: Cutis laxa, autosomal dominant 3
• Synonyms: autosomal dominant cutis laxa 3; ADCL3; cutis laxa, autosomal dominant type 3; cutis laxa, autosomal dominant 3
• Definition: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
• Disease Hierarchy:
  DIS2180B: Autosomal dominant cutis laxa
  DISMFQKM: Developmental anomaly of metabolic origin
  DISUFH0J: P5CS deficiency
  DIS0OJ0Q: Inherited cutis laxa
  DISTXM91: Cutis laxa, autosomal dominant 3
• Disease Identifiers:
  MONDO ID: MONDO_0014706
  UMLS CUI: C4225268
  OMIM ID: 616603
  MedGen ID: 899774

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Definitive	Autosomal dominant	[1]

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.