| Descriptor English: | LEOPARD Syndrome | ||||||
| Descriptor Spanish: |
Síndrome LEOPARD
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| Descriptor Portuguese: | Síndrome LEOPARD | ||||||
| Descriptor French: | Syndrome LEOPARD | ||||||
| Entry term(s): |
Cardio Cutaneous Syndrome Cardio-Cutaneous Syndrome Cardio-Cutaneous Syndromes Cardiomyopathic Lentiginoses Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic, Lentiginosis Cardiomyopathics, Lentiginosis LEOPARD Syndrome, 1 LEOPARD Syndromes Lentigines Syndrome, Multiple Lentigines Syndromes, Multiple Lentiginoses, Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis Cardiomyopathics Lentiginosis, Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic Leopard Syndrome 1 Multiple Lentigines Syndrome Multiple Lentigines Syndromes Noonan Syndrome with Multiple Lentigines Progressive Cardiomyopathic Lentiginoses Progressive Cardiomyopathic Lentiginosis Syndrome, Cardio-Cutaneous Syndrome, LEOPARD Syndrome, Multiple Lentigines Syndromes, Cardio-Cutaneous Syndromes, LEOPARD Syndromes, Multiple Lentigines |
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| Tree 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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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D044542 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Lentigo (1970-2003) Syndrome (1971-2003) |
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| Public MeSH Note: | 2004; see NEUROFIBROMATOSIS 1 2002 -2003 |
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| History Note: | 2004; use NEUROFIBROMATOSIS 1 2002 -2003 |
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| Related: |
Neurofibromatosis 1
MeSH Noonan Syndrome MeSH | ||||||
| DeCS ID: | 38037 | ||||||
| Unique ID: | D044542 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2004/01/01 | ||||||
| Date of Entry: | 2003/07/09 | ||||||
| Revision Date: | 2019/07/05 |
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LEOPARD Syndrome
- Preferred
LEOPARD Syndrome, 1
- Narrower
| Concept UI |
M0374986 |
| Scope note | 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. |
| Preferred term | LEOPARD Syndrome |
| Entry term(s) |
Cardio Cutaneous Syndrome Cardio-Cutaneous Syndrome Cardio-Cutaneous Syndromes Cardiomyopathic Lentiginoses Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic, Lentiginosis Cardiomyopathics, Lentiginosis LEOPARD Syndromes Lentigines Syndrome, Multiple Lentigines Syndromes, Multiple Lentiginoses, Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis Cardiomyopathics Lentiginosis, Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic Multiple Lentigines Syndrome Multiple Lentigines Syndromes Noonan Syndrome with Multiple Lentigines Progressive Cardiomyopathic Lentiginoses Progressive Cardiomyopathic Lentiginosis Syndrome, Cardio-Cutaneous Syndrome, LEOPARD Syndrome, Multiple Lentigines Syndromes, Cardio-Cutaneous Syndromes, LEOPARD Syndromes, Multiple Lentigines |
| Concept UI |
M000648334 |
| Preferred term | LEOPARD Syndrome, 1 |
| Entry term(s) |
Leopard Syndrome 1 |
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