Noonan Syndrome with Multiple Lentigines (NSML)

Noonan Syndrome with Multiple Lentigines(来自ICD-11)

别称:

Leopard Syndrome

Cardiomyopathic Lentiginosis

Moynahan Syndrome

Multiple Lentigines Syndrome

Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

Progressive Cardiomyopathic Lentiginosis

Familial Multiple Lentigines Syndrome

Cardio-Cutaneous Syndrome

Lentiginosis Profusa

Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

Alopecia Epilepsy Oligophrenia Syndrome of Moynahan

Progressive Cardiomyopathic Lentiginosis Syndrome

Lentiginosis Profusa Syndrome

Generalized Lentiginosis

Diffuse Lentiginosis

Gorlin Syndrome Ii

Nsml

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Noonan Syndrome with Multiple Lentigines, also known as leopard syndrome, is related to lentigines and noonan syndrome 1, and has symptoms including hyposmia and seizures. An important gene associated with Noonan Syndrome with Multiple Lentigines is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include skin and heart, and related phenotypes are intellectual disability and hypertelorism

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