Diseases

LEOPARD Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

31 entry terms
  • Cardio-Cutaneous Syndrome
  • Cardiomyopathic Lentiginosis
  • Lentiginosis Cardiomyopathic
  • Multiple Lentigines Syndrome
  • Noonan Syndrome with Multiple Lentigines
  • Progressive Cardiomyopathic Lentiginosis
  • Cardio Cutaneous Syndrome
  • Cardio-Cutaneous Syndromes
  • Cardiomyopathic Lentiginoses
  • Cardiomyopathic Lentiginoses, Progressive
  • Cardiomyopathic Lentiginosis, Progressive
  • Cardiomyopathic, Lentiginosis
  • Cardiomyopathics, Lentiginosis
  • LEOPARD Syndromes
  • Lentigines Syndrome, Multiple
  • Lentigines Syndromes, Multiple
  • Lentiginoses, Cardiomyopathic
  • Lentiginoses, Progressive Cardiomyopathic
  • Lentiginosis Cardiomyopathics
  • Lentiginosis, Cardiomyopathic
  • Lentiginosis, Progressive Cardiomyopathic
  • Multiple Lentigines Syndromes
  • Progressive Cardiomyopathic Lentiginoses
  • Syndrome, Cardio-Cutaneous
  • Syndrome, LEOPARD
  • Syndrome, Multiple Lentigines
  • Syndromes, Cardio-Cutaneous
  • Syndromes, LEOPARD
  • Syndromes, Multiple Lentigines
  • LEOPARD Syndrome, 1
  • Leopard Syndrome 1

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2004; use NEUROFIBROMATOSIS 1 2002 -2003

MeSH Record

Previous Indexing

  • Lentigo (1970-2003)
  • Syndrome (1971-2003)

MeSH Hierarchy

Tree Numbers

  1. C05w.660w.207w.525w
  2. C14w.240.400w.695w
  3. C14w.280w.400w.695w
  4. C14w.280w.484w.716w.525w
  5. C16w.131w.077w.525w
  6. C16w.131w.240.400w.685w
  7. C16w.131w.621w.207w.525w
  8. C17.800w.621w.430w.530w.550w.525w

AMA Style

References

  1. National Library of Medicine. LEOPARD Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D044542. http://id.nlm.nih.gov/mesh/2026/D044542
  2. LEOPARD Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Noonan_syndrome_with_multiple_lentigines
  3. LEOPARD Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1798016