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DeCS

Descriptor English:

LEOPARD Syndrome

Descriptor Spanish:

Síndrome LEOPARD

Descriptor Portuguese:

Síndrome LEOPARD

Tree Number:

Definition English:

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.

See Related English:

History Note English:

2004; use NEUROFIBROMATOSIS 1 2002 -2003

Allowable Qualifiers English:

Record Number:

38037

Unique Identifier:

D044542

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