Eiken Syndrome (EKNS)

Alias:

Eiken Skeletal Dysplasia

Bone Modeling Defect of Hands and Feet

Ekns

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Eiken Syndrome, also known as eiken skeletal dysplasia, is related to osteochondrodysplasia and malignant ovarian brenner tumor. An important gene associated with Eiken Syndrome is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Tyrosine Kinases / Adaptors. Affiliated tissues include bone and cortex, and related phenotypes are epiphyseal dysplasia and arthralgia

Related ID：

MALACARDS：EKN001

OMIM：600002

MESH：C564010