Details of Disease | DrugMAP

General Information of Disease (ID: DISKDUOX)

Disease Name	Cutis laxa, autosomal recessive, type 1A
Synonyms	autosomal recessive cutis laxa type IA; cutis laxa, autosomal recessive; cutis laxa, autosomal recessive, type IA; ARCL1; ARCL1A
Definition	An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
Disease Hierarchy	DIS27S03: Autosomal recessive cutis laxa type 1 DIS0OJ0Q: Inherited cutis laxa DISKDUOX: Cutis laxa, autosomal recessive, type 1A
Disease Identifiers	MONDO ID MONDO_0009052 MESH ID C562628 UMLS CUI C0268351 OMIM ID 219100 MedGen ID 78663

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFEMP2	OT0I2B4J	moderate	GermlineCausalMutation	[1]
FBLN5	OTLVNZ8U	Strong	Autosomal recessive	[2]
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References

1	Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.Clin Genet. 2009 Sep;76(3):276-81. doi: 10.1111/j.1399-0004.2009.01204.x. Epub 2009 Aug 3.
2	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.