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DeCS

Descritor Inglês:

LEOPARD Syndrome

Descritor Espanhol:

Síndrome LEOPARD

Descritor Português:

Síndrome LEOPARD

Categoria:

Definição Inglês:

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.

Relacionados Inglês:

Nota Histórica Inglês:

2004; use NEUROFIBROMATOSIS 1 2002 -2003

Qualificadores Permitidos Inglês:

Número do Registro:

38037

Identificador Único:

D044542

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