Details of Disease

General Information of Disease (ID: DIST7348)

Disease Name LMNA-related cardiocutaneous progeria syndrome
Synonyms LCPS
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.
Disease Hierarchy
DISMT2VZ: Cardiogenetic disease
DIS51AGT: Premature aging syndrome
DIST7348: LMNA-related cardiocutaneous progeria syndrome
Disease Identifiers
MONDO ID
MONDO_0018203
UMLS CUI
C4750858
MedGen ID
1667690
Orphanet ID
363618
SNOMED CT ID
773426004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNA OT3SG7ZR Supportive Autosomal dominant [1]
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References

1 LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. Am J Med Genet A. 2013 Jul;161A(7):1599-611. doi: 10.1002/ajmg.a.35971. Epub 2013 May 10.