Cutis laxa, autosomal recessive, type 1A

MONDO:0009052

An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Also known as: ARCL1, ARCL1A, autosomal recessive cutis laxa type IA, cutis laxa, autosomal recessive, cutis laxa, autosomal recessive, type IA

1 clinical trial for this condition and its sub-types, 1 tagged with Cutis laxa, autosomal recessive, type 1A itself.

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Where it sits in the disease tree

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Including sub-types (1) Tagged with Cutis laxa, autosomal recessive, type 1A (1)

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Scientists hunt for hidden genes behind aortic aneurysms

Knowledge-focused Ongoing

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

Sponsor: Yale University • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:04 UTC

Cutis laxa, autosomal recessive, type 1A

Where it sits in the disease tree

Scientists hunt for hidden genes behind aortic aneurysms