"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
- Leopard Syndrome 1
- Leopard Syndrome 1s
- 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
- Cardiomyopathic Lentiginosis
- Cardiomyopathic Lentiginoses
- Lentiginoses, Cardiomyopathic
- Lentiginosis, Cardiomyopathic
- 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
- LEOPARD Syndrome, 1
- LEOPARD Syndromes, 1
- Syndromes, 1 LEOPARD
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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".
This graph shows the total number of publications written about "LEOPARD Syndrome" by people in this website by year, and whether "LEOPARD Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "LEOPARD Syndrome" by people in Profiles.
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Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature. 2010 Jun 10; 465(7299):808-12.