Leukodystrophy, Progressive, Early Childhood-Onset (PLDECO)

Alias:

Alkaline Ceramidase 3 Deficiency

Pldeco

Acer3-Related Early Childhood-Onset Progressive Leukodystrophy

Leukodystrophy Due to Alkaline Ceramidase 3 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Leukodystrophy, Progressive, Early Childhood-Onset, also known as alkaline ceramidase 3 deficiency, is related to aceruloplasminemia and colitis. An important gene associated with Leukodystrophy, Progressive, Early Childhood-Onset is ACER3 (Alkaline Ceramidase 3). Affiliated tissues include brain, and related phenotypes are developmental regression and coarse facial features

Related ID：

MALACARDS：LKD026

OMIM：617762

MESH：D020279