cutis laxa, autosomal dominant 1
Findings
No curated finding names cutis laxa, autosomal dominant 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.
Definition from the Mondo Disease Ontology (MONDO:0007411), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 features
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.
- Peripheral pulmonary artery stenosisHPOHP:0004969
- 1 of 1 reported patient
- Redundant skinHPOHP:0001582
- 2 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 2 of 3 reported patients
- Cutis laxaHPOHP:0000973
- 2 of 3 reported patients
- EmphysemaHPOHP:0002097
- 2 of 3 reported patients
- Inguinal herniaHPOHP:0000023
- 4 of 6 reported patients
- Congestive heart failureHPOHP:0001635
Show the remaining 4
- Hyperextensible skinHPOHP:0000974
- 0 of 2 reported patients
- Poor wound healingHPOHP:0001058
- 0 of 2 reported patients
- Prematurely aged appearanceHPOHP:0007495
- Progeroid facial appearanceHPOHP:0005328
Genes
1 gene
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.
- ELNHGNC:3327
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: cutis laxa, autosomal dominant 1
- Also called
- ADCL1autosomal dominant cutis laxa caused by mutation in ELNcutis laxa, autosomal dominant type 1ELN autosomal dominant cutis laxa