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LEOPARD syndrome

Introduction: LEOPARD syndrome

Description of LEOPARD syndrome

LEOPARD syndrome (medical condition): A rare genetic disorder characterized by multiple lentigines, pulmonic...more »

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LEOPARD Syndrome:
  »Introduction: LEOPARD Syndrome
  »Symptoms of LEOPARD Syndrome

LEOPARD syndrome: A syndrome characterized by Lentigines (LENTIGO); Electrocardiographic conduction abnormalities; Ocular HYPERTELORISM; PULMONARY STENOSIS; Abnormal genitalia; Retardation of growth; and Deafness (HEARING LOSS, SENSORINEURAL). It is caused by mutations of the PTPN11 gene which codes for non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11. The clinical features of LEOPARD syndrome overlap those of NOONAN SYNDROME, also caused by mutations in PTPN11, as well as those of NEUROFIBROMATOSIS 1. The syndrome has also been associated with mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). (J Med Genet 2002 Aug;39(8):571-4)
Source: Diseases Database

LEOPARD syndrome: A syndrome characterized by Lentigines (LENTIGO); Electrocardiographic conduction abnormalities; Ocular HYPERTELORISM; PULMONARY STENOSIS; Abnormal genitalia; Retardation of growth; and Deafness (HEARING LOSS, SENSORINEURAL). It is caused by mutations of the PTPN11 gene which codes for non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11. The clinical features of LEOPARD syndrome overlap those of NOONAN SYNDROME, also caused by mutations in PTPN11, as well as those of NEUROFIBROMATOSIS 1. The syndrome has also been associated with mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). (J Med Genet 2002 Aug;39(8):571-4).
Source: MeSH 2007

LEOPARD syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for LEOPARD syndrome:

LEOPARD syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

LEOPARD syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that LEOPARD syndrome, or a subtype of LEOPARD syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list LEOPARD syndrome as a "rare disease".

Source - Orphanet

LEOPARD syndrome as a Disease

LEOPARD syndrome (medical condition): See LEOPARD Syndrome (disease information).
  »Introduction: LEOPARD Syndrome
  »Symptoms of LEOPARD Syndrome

LEOPARD syndrome: Related Diseases

LEOPARD syndrome: LEOPARD syndrome is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: LEOPARD Syndrome:

LEOPARD syndrome: Related Disease Topics

These medical disease topics may be related to LEOPARD syndrome:

Terms associated with LEOPARD syndrome:

Terms Similar to LEOPARD syndrome:

Source: Diseases Database

Source - NIH

The following terms can be used for LEOPARD syndrome

Source: CRISP

External links related to: LEOPARD syndrome

Source: Diseases Database

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