LEOPARD syndrome
Sign in to saveAlso known as Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Cardiocutaneous syndrome, Generalized lentiginosis (disorder), Gorlin syndrome II, Lentiginosis profusa syndrome, Moynahan syndrome, Multiple lentigines syndrome (disorder)
rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)
Research
559 papers- LEOPARD Syndrome.International journal of dermatology · 2024
- Leopard syndrome.Orphanet journal of rare diseases · 2008
- LEOPARD syndrome with hypertrophic cardiomyopathy.QJM : monthly journal of the Association of Physicians · 2023
- Leopard syndrome.Dermatology online journal · 2008
- [LEOPARD syndrome].Kardiologiia · 2020
via PubMed
Wikidata facts
- Instance of
- symptom or sign
- Subclass of
- RASopathy
Show 7 more facts
- exact match
- purl.obolibrary.org/obo/DOID_14291
- on focus list of Wikimedia project
- WikiProject Medicine
- Commons category
- LEOPARD syndrome
- ICPC 2 ID
- A90
- NCI Thesaurus ID
- C84820
- health specialty
- rheumatology
- genetic association
- PTPN11
Sources (1)
via Wikidata · CC0