Hereditary sensory and autonomic neuropathy type 7
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 April 2024
Newly diagnosed with
Hereditary sensory and autonomic neuropathy type 7?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.