LMNA-related cardiocutaneous progeria syndrome
Findings
No curated finding names LMNA-related cardiocutaneous progeria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
Definition from the Mondo Disease Ontology (MONDO:0018203), read 2026-09-29. CC BY 4.0.
Features
27 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 intrahepatic bile duct morphologyHPOHP:0011040
- Very frequent (80% to 99% of cases)
- Abnormality of the pulmonary arteryHPOHP:0004414
- Very frequent (80% to 99% of cases)
- Absent eyebrowHPOHP:0002223
- Very frequent (80% to 99% of cases)
- Absent eyelashesHPOHP:0000561
- Very frequent (80% to 99% of cases)
- Alopecia universalisHPOHP:0002289
- Very frequent (80% to 99% of cases)
- Aortic atherosclerotic lesionHPOHP:0012397
- Very frequent (80% to 99% of cases)
Show the remaining 15
- HypercholesterolemiaHPOHP:0003124
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Intracranial hemorrhageHPOHP:0002170
- Very frequent (80% to 99% of cases)
- LipoatrophyHPOHP:0100578
- Very frequent (80% to 99% of cases)
- Mitral regurgitationHPOHP:0001653
- Very frequent (80% to 99% of cases)
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.
- LMNAHGNC:6636
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: LMNA-related cardiocutaneous progeria syndrome
- Also called
- LCPS