LEOPARD Syndrome [syndrom Noonanové s mnohočetnými pihami]
- Terms
-
Gorlinův syndrom II
LEOPARD syndrom
LEOPARD syndrom 1
Leopardí syndrom
syndrom LEOPARD
-
Cardio-Cutaneous Syndrome
Cardiomyopathic Lentiginosis
Lentiginosis Cardiomyopathic
Leopard Syndrome 1
LEOPARD Syndrome, 1
Multiple Lentigines Syndrome
Noonan Syndrome with Multiple Lentigines
Progressive Cardiomyopathic Lentiginosis
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.
- DUI
- D044542 MeSH Browser
- CUI
- M0374986
- Previous indexing
- Lentigo (1970-2003); Syndrome (1971-2003)
- History note
- 2004; use NEUROFIBROMATOSIS 1 2002 -2003
- Public note
- 2004; see NEUROFIBROMATOSIS 1 2002 -2003
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 1
- DI
- diagnosis 5
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 1
- GE
- genetics 9
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 2
- PP
- physiopathology 3
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 0
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0