You have selected the view in French
Descriptor English: | LEOPARD Syndrome | ||||||
Descriptor Spanish: |
Síndrome LEOPARD
| ||||||
Descriptor Portuguese: | Síndrome LEOPARD | ||||||
Descriptor French: | Syndrome LEOPARD | ||||||
Entry term(s): |
Lentiginose cardiomyopathique Syndrome des lentigines multiples |
||||||
Tree number(s): |
C05.660.207.525 C14.240.400.695 C14.280.400.695 C14.280.484.716.525 C16.131.077.525 C16.131.240.400.685 C16.131.621.207.525 C17.800.621.430.530.550.525 |
||||||
RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D044542 | ||||||
Scope note: | An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. |
||||||
Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
||||||
Related: |
Neurofibromatose de type 1
MeSH Syndrome de Noonan MeSH | ||||||
DeCS ID: | 38037 | ||||||
Unique ID: | D044542 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 2004/01/01 | ||||||
Date of Entry: | 2003/07/09 | ||||||
Revision Date: | 2019/07/05 |
|
Syndrome LEOPARD
- Preferred
Concept UI |
M0374986 |
Preferred term | Syndrome LEOPARD |
Entry term(s) |
Lentiginose cardiomyopathique Syndrome des lentigines multiples |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey