Holoprosencephaly 11 (HPE11)

Alias:

Hpe11

Holoprosencephaly, Type 11

Holoprosencephaly-11

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Holoprosencephaly 11, also known as hpe11, is related to multiple benign circumferential skin creases on limbs and corpus callosum lipoma. An important gene associated with Holoprosencephaly 11 is CDON (Cell Adhesion Associated, Oncogene Regulated), and among its related pathways/superpathways are Signaling by Hedgehog and Wnt / Hedgehog / Notch. Affiliated tissues include brain and pituitary, and related phenotypes are agenesis of corpus callosum and global developmental delay

Related ID：

MALACARDS：HLP016

OMIM：614226

MESH：D016142