Hyperekplexia 1 (HKPX1)

Alias:

Hkpx1

Exaggerated Startle Reaction

Stiff-Baby Syndrome

Kok Disease

Sthe

Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive

Stiff-Person Syndrome, Congenital

Congenital Stiff-Person Syndrome

Stiff-Man Syndrome, Congenital

Startle Reaction, Exaggerated

Congenital Stiff-Man Syndrome

Hereditary Hyperexplexia 1

Startle Disease, Familial

Hyperekplexia, Hereditary

Familial Startle Disease

Hereditary Hyperexplexia

Stiff-Person Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperekplexia 1, also known as hkpx1, is related to molybdenum cofactor deficiency and hyperekplexia, and has symptoms including fever, muscle rigidity and opisthotonus. An important gene associated with Hyperekplexia 1 is GLRA1 (Glycine Receptor Alpha 1). The drugs Picropodophyllin and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are seizure and inguinal hernia

Related ID：

MALACARDS：HYP699

OMIM：149400

MESH：D000071017