Cantu Syndrome (HTOCD)

Alias:

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Osteochondrodysplasia, Hypertrichotic

Htocd

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to patent ductus arteriosus 1 and cardiomyopathy, dilated, 1o. An important gene associated with Cantu Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and Potassium Channels. Affiliated tissues include bone and heart, and related phenotypes are coarse facial features and thick vermilion border

Related ID：

MALACARDS：CNT056

OMIM：239850

MESH：C535572