"LEOPARD Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D044542
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| MeSH Number(s) |
C05.660.207.525 C14.240.400.695 C14.280.400.695 C14.280.484.716.525 C16.131.077.525 C16.131.240.400.685 C16.131.621.207.525 C17.800.621.430.530.550.525
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| Concept/Terms |
LEOPARD Syndrome- LEOPARD Syndrome
- LEOPARD Syndromes
- Syndrome, LEOPARD
- Syndromes, LEOPARD
- Multiple Lentigines Syndrome
- Lentigines Syndrome, Multiple
- Lentigines Syndromes, Multiple
- Multiple Lentigines Syndromes
- Syndrome, Multiple Lentigines
- Syndromes, Multiple Lentigines
- Lentiginosis Cardiomyopathic
- Cardiomyopathic, Lentiginosis
- Cardiomyopathics, Lentiginosis
- Lentiginosis Cardiomyopathics
- Leopard Syndrome 1
- Leopard Syndrome 1s
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Below are MeSH descriptors whose meaning is more general than "LEOPARD Syndrome".
Below are MeSH descriptors whose meaning is more specific than "LEOPARD Syndrome".
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Below are the most recent publications written about "LEOPARD Syndrome" by people in Profiles.