LEOPARD Syndrome
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.
Year introduced: 2004
Date introduced: July 9, 2003
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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
MeSH Unique ID: D044542
Entry Terms:
- LEOPARD Syndromes
- Syndrome, LEOPARD
- Syndromes, LEOPARD
- Multiple Lentigines Syndrome
- Lentigines Syndrome, Multiple
- Lentigines Syndromes, Multiple
- Multiple Lentigines Syndromes
- Syndrome, Multiple Lentigines
- Syndromes, Multiple Lentigines
- Lentiginosis Cardiomyopathic
- Cardiomyopathic, Lentiginosis
- Cardiomyopathics, Lentiginosis
- Lentiginosis Cardiomyopathics
- Cardiomyopathic Lentiginosis
- Cardiomyopathic Lentiginoses
- Lentiginoses, Cardiomyopathic
- Lentiginosis, Cardiomyopathic
- Cardio-Cutaneous Syndrome
- Cardio Cutaneous Syndrome
- Cardio-Cutaneous Syndromes
- Syndrome, Cardio-Cutaneous
- Syndromes, Cardio-Cutaneous
- Noonan Syndrome with Multiple Lentigines
- Progressive Cardiomyopathic Lentiginosis
- Cardiomyopathic Lentiginoses, Progressive
- Cardiomyopathic Lentiginosis, Progressive
- Lentiginoses, Progressive Cardiomyopathic
- Lentiginosis, Progressive Cardiomyopathic
- Progressive Cardiomyopathic Lentiginoses
- LEOPARD Syndrome, 1
- Leopard Syndrome 1
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