LEOPARD-syndrom
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.
Förklaring på engelska
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.
Synonym, svenska: Kardiokutant syndrom; Noonans syndrom med multipla lentigines
Synonym, engelska: LEOPARD Syndromes; Syndrome, LEOPARD; Syndromes, LEOPARD; 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; 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; Cardiomyopathic Lentiginosis; Cardiomyopathic Lentiginoses; Lentiginoses, Cardiomyopathic; Lentiginosis, Cardiomyopathic; LEOPARD Syndrome, 1; Leopard Syndrome 1
| Svensk term | LEOPARD-syndrom |
| Synonym på svenska | Kardiokutant syndrom; Noonans syndrom med multipla lentigines |
| Synonym på engelska | LEOPARD Syndromes; Syndrome, LEOPARD; Syndromes, LEOPARD; 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; 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; Cardiomyopathic Lentiginosis; Cardiomyopathic Lentiginoses; Lentiginoses, Cardiomyopathic; Lentiginosis, Cardiomyopathic; LEOPARD Syndrome, 1; Leopard Syndrome 1 |
| Engelsk term | LEOPARD Syndrome |
| MESH ID | D044542 |