cutis laxa, autosomal dominant 3
Findings
No curated finding names cutis laxa, autosomal dominant 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Definition from the Mondo Disease Ontology (MONDO:0014706), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
31 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.
- Broad foreheadHPOHP:0000337
- 8 of 8 reported patients
- Corneal opacityHPOHP:0007957
- 8 of 8 reported patients
- Cutis laxaHPOHP:0000973
- 8 of 8 reported patients
- Dermal translucencyHPOHP:0010648
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
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.
- ALDH18A1HGNC:9722
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Semidominant · 2018
Where it sits
Other names
2 names
Resolves to: cutis laxa, autosomal dominant 3
- Also called
- ADCL3cutis laxa, autosomal dominant type 3