cutis laxa, autosomal recessive, type 1B
Findings
No curated finding names cutis laxa, autosomal recessive, type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
Definition from the Mondo Disease Ontology (MONDO:0013754), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death · Death in childhood
HPO, annotations 2026-09-02
Features
30 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.
- Abnormal pinna morphologyHPOHP:0000377
- 1 of 1 reported patient
- Aortic root aneurysmHPOHP:0002616
- 1 of 1 reported patient
- Arterial tortuosityHPOHP:0005116
- 4 of 4 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 1 of 1 reported patient
- Bowing of the long bonesHPOHP:0006487
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Congenital diaphragmatic herniaHPOHP:0000776
Show the remaining 18
- Hypoplasia of the diaphragmHPOHP:0040044
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- IntussusceptionHPOHP:0002576
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 2 of 2 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
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.
- EFEMP2HGNC:3219
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: cutis laxa, autosomal recessive, type 1B
- Also called
- ARCL1B