hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'
MONDO:1060232
congenital insensitivity to pain
is_a
CIP with hyperhidrosis and gastrointestinal dysfunction
exact
HSAN with hyperhidrosis and gastrointestinal dysfunction
exact
HSAN7
exact
SCN11A autosomal dominant hereditary sensory and autonomic neuropathy
exact
SCN11A-CIP
exact
autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A
exact
congenital insensitivity to pain with gastrointestinal dysfunction
exact
congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
exact
hereditary sensory and autonomic neuropathy type VII
exact
hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
exact
neuropathy, hereditary sensory and autonomic, type VII
related