Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Synonyms: SCN9A-related congenital insensitivity to pain
A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli commonly associated with neuropathic arthropathy. In addition patients are typically anosmic.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Congenital insensitivity to pain-anosmia-neuropathic arthropathy?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
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