Hyperekplexia 2 (HKPX2)

Alias:

Hkpx2

Autosomal Recessive Hyperekplexia 2

Hyperekplexia, Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperekplexia 2, also known as hkpx2, is related to stiff-person syndrome and retinitis pigmentosa 84. An important gene associated with Hyperekplexia 2 is GLRB (Glycine Receptor Beta), and among its related pathways/superpathways is Transmission across Chemical Synapses. Related phenotypes are hyperreflexia and hypertonia

Related ID：

MALACARDS：HYP510

OMIM：614619

MESH：D000071017