Details of Disease | DrugMAP

General Information of Disease (ID: DISBKQL6)

Disease Name	Cutis laxa, autosomal recessive, type 2E
Synonyms	cutis laxa, autosomal recessive, type 2E; cutis laxa, autosomal recessive, type IIE; ARCL2E
Disease Hierarchy	DIS0OJ0Q: Inherited cutis laxa DISBKQL6: Cutis laxa, autosomal recessive, type 2E
Disease Identifiers	MONDO ID MONDO_0030337 UMLS CUI C5561944 OMIM ID 619451 MedGen ID 1794154

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
LTBP1	OTR7Q75L	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14.