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)
In the Vinony graph
Within Vinony's link graph, LEOPARD syndrome is referenced by 76 other articles, and connects out to electrocardiography, mitogen-activated protein kinases and lentigo.
It is catalogued under topics including Enzyme defects, Genodermatoses and Melanocytic nevi and neoplasms.
Its subject is documented across 13 Wikipedia language editions.
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
Connections
electrocardiography
Entity
mitogen-activated protein kinases
Entity
lentigo
Entity
heart
Entity
Panthera pardus
Entity
International Standard Book Number
Entity
deafness
Entity
testicle
Entity
cheek
Entity
digital object identifier
Entity
leukemia
Entity
mutation
Entity
epidemiology
Entity
sex organ
Entity
catalysis
Entity
vitiligo
Entity
University of Washington
Entity
allele
Entity
torso
Entity
heart arrhythmia
Entity