cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Findings
No curated finding names cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
Definition from the Mondo Disease Ontology (MONDO:0013170), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
46 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.
- Cutis laxaHPOHP:0000973
- 4 of 4 reported patients
- EmphysemaHPOHP:0002097
- 3 of 3 reported patients
- Growth delayHPOHP:0001510
- 4 of 4 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 4 reported patients
- Long philtrumHPOHP:0000343
- 3 of 3 reported patients
- Multiple bladder diverticulaHPOHP:0012619
Show the remaining 34
- Patent foramen ovaleHPOHP:0001655
- 2 of 3 reported patients
- AtelectasisHPOHP:0100750
- 2 of 4 reported patients
- HydronephrosisHPOHP:0000126
- 2 of 4 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 4 reported patients
- Pyloric stenosisHPOHP:0002021
- 2 of 4 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.
- LTBP4HGNC:6717
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Also called
- ARCL1Cautosomal recessive cutis laxa type 1CUrban-Rifkin-Davis syndrome