DISEASES

Disease-gene associations mined from literature

Human genes for LEOPARD syndrome

LEOPARD syndrome [DOID:14291]

LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis,:550 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome) - is part of a group called Ras/MAPK pathway syndromes - is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, they may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known, however research is ongoing. It is a RASopathy.

Synonyms:  LEOPARD syndrome,  DOID:14291,  LEOPARD disease,  LEOPARD disorder,  Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome ...

Linkouts:  OMIM #1 #2 #3 #4