Details of Disease

General Information of Disease (ID: DIS7URGV)

• Disease Name: Autosomal recessive cutis laxa type 2B
• Synonyms: cutis laxa, autosomal recessive, type 2B; cutis laxa, autosomal recessive type 2B; cutis laxa with progeroid features; autosomal recessive cutis laxa type IIB; cutis laxa, autosomal recessive, type IIB; ARCL2B; autosomal recessive cutis laxa type 2B; autosomal recessive cutis laxa type 2 caused by mutation in PYCR1; PYCR1 autosomal recessive cutis laxa type 2; autosomal recessive cutis laxa type 2, progeroid type; ARCL2, progeroid type
• Definition: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
• Disease Hierarchy:
  DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
  DIS8VKY4: Autosomal recessive cutis laxa type 2
  DIS7URGV: Autosomal recessive cutis laxa type 2B
• Disease Identifiers:
  MONDO ID: MONDO_0013051
  MESH ID: C567855
  UMLS CUI: C2751987
  OMIM ID: 612940
  MedGen ID: 414526
  Orphanet ID: 357064
  SNOMED CT ID: 778068007

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
ALDH18A1	OT6W40XU	Limited	Genetic Variation	[1]
PYCR1	OTQHB52T	Definitive	Autosomal recessive	[2]

References

• [1] Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.