Schuurs-Hoeijmakers Syndrome (SHMS)

Alias:

Mrd17

Shms

Intellectual Developmental Disorder, Autosomal Dominant 17

Mental Retardation, Autosomal Dominant 17

Autosomal Dominant Mental Retardation 17

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Schuurs-Hoeijmakers Syndrome, also known as mrd17, is related to epicanthus and hypertelorism, and has symptoms including constipation and seizures. An important gene associated with Schuurs-Hoeijmakers Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1), and among its related pathways/superpathways are Neuroscience and Interaction between L1 and Ankyrins. Affiliated tissues include brain and b cells, and related phenotypes are abnormal cardiac septum morphology and cerebellar hypoplasia

Related ID：

MALACARDS：SCH074

OMIM：615009

MESH：D008607