cutis laxa, autosomal recessive, type 1A
Findings
No curated finding names cutis laxa, autosomal recessive, type 1A 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 that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
Definition from the Mondo Disease Ontology (MONDO:0009052), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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 cutaneous elastic fiber morphologyHPOHP:0025082
- 1 of 1 reported patient
- Cutis laxaHPOHP:0000973
- 6 of 6 reported patients
- EmphysemaHPOHP:0002097
- 6 of 6 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 4 of 4 reported patients
- Redundant skinHPOHP:0001582
- 4 of 4 reported patients
- Aortic regurgitationHPOHP:0001659
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
Show the remaining 3
- Congenital diaphragmatic herniaHPOHP:0000776
- 0 of 2 reported patients · Congenital onset
- Hyperextensible skinHPOHP:0000974
- 0 of 2 reported patients
- Poor wound healingHPOHP:0001058
- 0 of 2 reported patients
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.
- FBLN5HGNC:3602
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
Where it sits
Other names
1 name
Resolves to: cutis laxa, autosomal recessive, type 1A
- Also called
- ARCL1A