LEOPARD Syndrome

LEOPARD-syndrom

Svensk definition

Ett syndrom som kännetecknas av lentigo, ekg-avvikelser, hypertelorism, pulmonalstenos, onormalt utvecklade könsorgan, hämmad växt och dövhet. Det beror på mutationer i PTPN11-genen, som kodar för protein-tyrosinfosfatas typ 11, ett icke-receptorprotein. De kliniska dragen delas med Noonans syndrom, som också beror på mutationer i PTPN11, och med neurofibromatos 1. Syndromet har även kopplats till mutationer i NF1-genen.

Engelsk definition

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.

Svenska synonymer

Kardiokutant syndrom Noonans syndrom med multipla lentigines

Engelska synonymer

LEOPARD Syndromes Syndrome, LEOPARD Syndromes, LEOPARD Leopard Syndrome 1 Leopard Syndrome 1s Lentiginosis Cardiomyopathic Cardiomyopathic, Lentiginosis Cardiomyopathics, Lentiginosis Lentiginosis Cardiomyopathics Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis, Progressive Lentiginoses, Progressive Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic Progressive Cardiomyopathic Lentiginoses 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 Multiple Lentigines Syndrome Lentigines Syndrome, Multiple Lentigines Syndromes, Multiple Multiple Lentigines Syndromes Syndrome, Multiple Lentigines Syndromes, Multiple Lentigines LEOPARD Syndrome, 1 LEOPARD Syndromes, 1 Syndromes, 1 LEOPARD