FB2026_03 , released September 17, 2026
Human Disease Model Report: Noonan syndrome with multiple lentigines
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General Information
Name
Noonan syndrome with multiple lentigines
FlyBase ID
FBhh0000027
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as Noonan syndrome with multiple lentigines (NSML; previously LEOPARD syndrome). NSML is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of NSML syndrome subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Aug. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Noonan syndrome with multiple lentigines
OMIM report
Symptoms and phenotype

The phenotypes typically observed include multiple lentigines (small pigmented skin spots), electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness (Gorlin et al., 1969; pubmed:5771505). [from MIM:151100; 2020.08.11]

(OMIM, 2013-)
Genetics

LEOPARD syndrome is a genetically heterogeneous disorder. [from MIM:151100, 2015.04.10]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
Cardiocutaneous syndrome
Generalized lentiginosis
Gorlin syndrome II
Lentiginosis profusa syndrome
LEOPARD syndrome
Moynahan syndrome
Multiple lentigines syndrome
Noonan syndrome with multiple lentigines
NSML
Progressive cardiomyopathic lentiginosis
Search term: RASopathy
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (4)