autosomal recessive cutis laxa type 1

Findings

No curated finding names autosomal recessive cutis laxa type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal recessive disease
• inherited cutis laxa

Narrower terms (3)

• cutis laxa, autosomal recessive, type 1A
• cutis laxa, autosomal recessive, type 1B
• cutis laxa, autosomal recessive, type 1d

Resolves to: autosomal recessive cutis laxa type 1

Also called

ARCL1autosomal recessive cutis laxa with severe systemic involvementautosomal recessive cutis laxa, pulmonary emphysema type