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LMNA-related cardiocutaneous progeria syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018203

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. [ Orphanet:363618 ]

Term info

database cross reference
  • Orphanet:363618 (MONDO:equivalentTo)
  • UMLS:CN204714 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
LCPS [ Orphanet:363618 ]

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_363618, http://linkedlifedata.com/resource/umls/id/CN204714

id

MONDO:0018203