encyclopedia of medical concepts
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 

LEOPARD Syndrome

More information in Books or onNLM PubMed
Definition: 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.     
See Also Neurofibromatosis 1; Noonan Syndrome 		Other names Syndromes, Multiple Lentigines; Syndromes, LEOPARD; Syndrome, Multiple Lentigines; Syndrome, LEOPARD; Multiple Lentigines Syndromes; Lentigines Syndromes, Multiple; Lentigines Syndrome, Multiple; LEOPARD Syndromes; Multiple Lentigines Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
LEOPARD syndrome, 2  0   *LEOPARD Syndrome.
LEOPARD syndrome, 1  0   *LEOPARD Syndrome.

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy