Popliteal Pterygium Syndrome (PPS)

Popliteal Pterygium Syndrome(来自ICD-11)

别称:

Autosomal Dominant Popliteal Pterygium Syndrome

Facio-Genito-Popliteal Syndrome

Popliteal Web Syndrome

Pps

Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies

Faciogenitopopliteal Syndrome

Popliteal Pterygium Syndrome 1

Popliteal Pterygium

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Popliteal Pterygium Syndrome, also known as autosomal dominant popliteal pterygium syndrome, is related to van der woude syndrome 1 and syngnathia. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are NF-kappaB Signaling and Wnt / Hedgehog / Notch. Affiliated tissues include skin and uterus, and related phenotypes are joint stiffness and cleft palate

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