Details of Disease | DrugMAP

General Information of Disease (ID: DISWWS8T)

Disease Name	Autosomal recessive cutis laxa type 2C
Synonyms	cutis laxa, autosomal recessive, type IIC; autosomal recessive cutis laxa type IIC; cutis laxa, autosomal recessive, type 2C; ARCL2C
Definition	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
Disease Hierarchy	DIS8VKY4: Autosomal recessive cutis laxa type 2 DISWWS8T: Autosomal recessive cutis laxa type 2C
Disease Identifiers	MONDO ID MONDO_0027462 UMLS CUI C4479387 OMIM ID 617402 MedGen ID 1385755

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP6V1A	TTL2PXZ	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

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