Orphanet: Congenital insensitivity to pain with severe intellectual disability

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Congenital insensitivity to pain with severe intellectual disability

Disease definition

Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.

ORPHA:453510

Classification level: Disorder

Synonym(s):
- Congenital absence of pain with severe intellectual disability
- Congenital analgesia with severe intellectual disability
- Congenital insensitivity to pain with preserved temperature sensation
- Congenital insensitivity to pain with severe non-progressive cognitive delay
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal
ICD-10: G60.8
OMIM: -
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Congenital insensitivity to pain with severe intellectual disability

ORPHA:453510

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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