Marsili Syndrome (MARSIS)

Marsili Syndrome(来自ICD-11)

别称:

Insensitivity to Pain, Congenital, Autosomal Dominant

Congenital Analgesia, Autosomal Dominant

Congenital Insensitivity to Pain

Marsis

Indifference to Pain, Congenital, Autosomal Dominant

Congenital Analgesia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Marsili Syndrome, also known as insensitivity to pain, congenital, autosomal dominant, is related to congenital insensitivity to pain-anosmia-neuropathic arthropathy and neuropathy, hereditary sensory and autonomic, type vii. An important gene associated with Marsili Syndrome is ZFHX2 (Zinc Finger Homeobox 2), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. Affiliated tissues include bone and skin, and related phenotypes are recurrent fever and hypohidrosis

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