Noonan Syndrome 1 (NS1)

Alias:

Noonan Syndrome

Turner Phenotype with Normal Karyotype

Female Pseudo-Turner Syndrome

Male Turner Syndrome

Ns1

Noonan Syndrome with Pigmented Villonodular Synovitis

Turner-Like Syndrome

Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions

Noonan-Like/multiple Giant Cell Lesion Syndrome

Turner Syndrome in Female with X Chromosome

Turner's Phenotype, Karyotype Normal

Pseudo-Ullrich-Turner Syndrome

Pterygium Colli Syndrome

Familial Turner Syndrome

Ullrich-Noonan Syndrome

Noonan Syndrome, Type 1

Noonan-Ehmke Syndrome

Turner Syndrome, Male

Noonan's Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Noonan Syndrome 1, also known as noonan syndrome, is related to noonan syndrome with multiple lentigines and neurofibromatosis-noonan syndrome. An important gene associated with Noonan Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Infectious disease and Apoptotic Pathways in Synovial Fibroblasts. The drugs Simvastatin and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related phenotypes are ptosis and dysarthria

Related ID：

MALACARDS：NNN008

OMIM：163950

MESH：D009634

ICD11：1044395354