Number of the records: 1  

LEOPARD-syndróm

  1. Record numberd044542
    Date06.06.2025
    TypeM - MESH
    Topical termLEOPARD-syndróm
    See also(Later heading) neurofibromatóza 1
    (Later heading) Noonanovej syndróm
    (Skutočné meno) neurofibromatóza 1
    (Skutočné meno) Noonanovej syndróm
    UDCC05.660.207.525C14.240.400.695C14.280.400.695C14.280.484.716.525C16.131.077.525C16.131.240.400.685C16.131.621.207.525C17.800.621.430.530.550.525
    NoteAn 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.
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Number of the records: 1  

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