Details of Disease

General Information of Disease (ID: DISJUYUW)

• Disease Name: Autosomal recessive cutis laxa type 2D
• Synonyms: autosomal recessive cutis laxa type IID; cutis laxa, autosomal recessive, type IID; cutis laxa, autosomal recessive, type 2D; ARCL2D
• Definition: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
• Disease Hierarchy:
  DIS8VKY4: Autosomal recessive cutis laxa type 2
  DISJUYUW: Autosomal recessive cutis laxa type 2D
• Disease Identifiers:
  MONDO ID: MONDO_0027451
  UMLS CUI: C4479409
  OMIM ID: 617403
  MedGen ID: 1376619

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP6V1A	TTL2PXZ	Strong	Autosomal recessive	[1]
ATP6V1A	TTL2PXZ	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V0A2	OTJBDX0Y	Limited	GermlineCausalMutation	[3]
ATP6V1A	OTYZ2S9E	Strong	Autosomal recessive	[1]
ATP6V1E1	OT76J5R9	Strong	GermlineCausalMutation	[2]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] 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.
• [3] Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.