Leopard Syndrome 1 malady
Categories: Genetic diseases (common), Cardiovascular diseases
Aliases & Descriptions for Leopard Syndrome 1:
leopard syndrome 1:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases (common)
Anatomical: Cardiovascular diseases
OMIM:51 LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines,... (151100) more...
MalaCards based summary: Leopard Syndrome 1, also known as multiple lentigines syndrome, is related to lentiginosis, inherited patterned and noonan syndrome with multiple lentigines, and has symptoms including pulmonic stenosis, hypertrophic cardiomyopathy and cryptorchidism. An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). Affiliated tissues include ovary.
UniProtKB/Swiss-Prot:69 LEOPARD syndrome 1: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
Diseases in the Leopard Syndrome 1 family:
Diseases related to Leopard Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Leopard Syndrome 1:
Human phenotypes related to Leopard Syndrome 1:63 (show all 41)
UMLS symptoms related to Leopard Syndrome 1:sense of smell impaired
Drugs for Leopard Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Leopard Syndrome 1
MalaCards organs/tissues related to Leopard Syndrome 1:35
Search GEO for disease gene expression data for Leopard Syndrome 1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet