Autosomal recessive cutis laxa type 1

rare

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

Identifiers: MONDO:0019572 Orphanet:90349
Part of: Autosomal recessive disease Inherited cutis laxa
Also known as: ARCL1 · autosomal recessive cutis laxa with severe systemic involvement · autosomal recessive cutis laxa, pulmonary emphysema type · cutis laxa, autosomal recessive type 1 · cutis laxa, type 1

Subtypes

All diseases Rare only

Disease	ID	Genes
Cutis laxa, autosomal recessive, type 1A	MONDO:0009052	FBLN5
Cutis laxa, autosomal recessive, type 1B	MONDO:0013754	EFEMP2
Cutis laxa, autosomal recessive, type 1d	MONDO:0958335	EFEMP1

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