Details of Disease | DrugMAP

General Information of Disease (ID: DISRVQS9)

Disease Name	Cutis laxa, autosomal recessive, type 1B
Synonyms	cutis laxa, autosomal recessive, type IB; autosomal recessive cutis laxa type IB; ARCL1B
Definition	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
Disease Hierarchy	DIS27S03: Autosomal recessive cutis laxa type 1 DIS0OJ0Q: Inherited cutis laxa DISRVQS9: Cutis laxa, autosomal recessive, type 1B
Disease Identifiers	MONDO ID MONDO_0013754 UMLS CUI C3280798 OMIM ID 614437 MedGen ID 482428

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFEMP2	OT0I2B4J	Definitive	Autosomal recessive	[1]
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References

1	Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. Eur J Pediatr. 2014 May;173(5):671-5. doi: 10.1007/s00431-013-2217-y. Epub 2013 Nov 26.