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Congenital insensitivity to pain syndrome, Marsili type

rare

A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.

Identifiers
MONDO:0958106 OMIM:147430Orphanet:653728
Causal genes
ZFHX2
Part of
Congenital insensitivity to painSyndromic disease
Also known as
congenital analgesia, autosomal dominant · indifference to pain, congenital, autosomal dominant · insensitivity to pain, congenital, autosomal dominant · MARSILI syndrome · MARSIS

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