Abcd Syndrome (ABCDS)

Alias:

Abcds

Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness

Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut and Deafness

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Abcd Syndrome, also known as abcds, is related to mild cognitive impairment and aganglionosis, total intestinal. An important gene associated with Abcd Syndrome is EDNRB (Endothelin Receptor Type B), and among its related pathways/superpathways are Neuroscience and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include small intestine and spinal cord, and related phenotypes are hearing impairment and aganglionic megacolon

Related ID：

MALACARDS：ABC001

OMIM：600501

MESH：C535334