Hereditary sensory and autonomic neuropathy type 7

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Synonyms: CIP with hyperhidrosis and gastrointestinal dysfunction | Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction | HSAN with hyperhidrosis and gastrointestinal dysfunction | HSAN7 | Hereditary sensory and autonomic neuropathy type VII | Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction

A rare genetic periphery neuropathy characterized by a congenital insensitivity to pain muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement self-mutilations skin ulcers poor wound healing painless fractures hyperhidrosis abdominal discomfort diarrhea and/or constipation. Cognitive development is normal.

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 July 2024

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Hereditary sensory and autonomic neuropathy type 7?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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