Details of Disease

General Information of Disease (ID: DIS9CZA4)

• Disease Name: Autosomal recessive cutis laxa type 2A
• Synonyms: cutis laxa with growth and developmental delay; cutis laxa, autosomal recessive type 2A; cutis laxa with Joint laxity and retarded development; autosomal recessive cutis laxa type IIA; cutis laxa, autosomal recessive, type 2A; ARCL2A; cutis laxa with congenital disorder of glycosylation; cutis laxa, autosomal recessive, type IIA; cutis laxa, debre type; autosomal recessive cutis laxa type 2A; cutis laxa with bone dystrophy
• Definition: An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
• Disease Hierarchy:
  DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
  DIS8VKY4: Autosomal recessive cutis laxa type 2
  DISSCALK: Hereditary skin disorder
  DIS9CZA4: Autosomal recessive cutis laxa type 2A
• Disease Identifiers:
  MONDO ID: MONDO_0018163
  MESH ID: C562632
  UMLS CUI: C0268355
  OMIM ID: 219200
  MedGen ID: 82795
  Orphanet ID: 357058
  SNOMED CT ID: 784381008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP6V1A	TTL2PXZ	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V0A2	OTJBDX0Y	Strong	Autosomal recessive	[2]
ATP6V1E1	OT76J5R9	Strong	GermlineCausalMutation	[1]

References

• [1] Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.
• [2] Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361.