Details of Disease

General Information of Disease (ID: DISD1SXZ)

• Disease Name: Hereditary sensory and autonomic neuropathy type 7
• Synonyms: neuropathy, hereditary sensory and autonomic, type 7; neuropathy, hereditary sensory and autonomic, type VII; HSAN 7; insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis; SCN11A autosomal dominant hereditary sensory and autonomic neuropathy; CIP with hyperhidrosis and gastrointestinal dysfunction; congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction; autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A; HSAN VII; HSAN with hyperhidrosis and gastrointestinal dysfunction; HSAN7; hereditary sensory and autonomic neuropathy type VII
• Definition: 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.'
• Disease Hierarchy:
  DIS2VOAM: Hereditary sensory and autonomic neuropathy
  DISD1SXZ: Hereditary sensory and autonomic neuropathy type 7
• Disease Identifiers:
  MONDO ID: MONDO_0014244
  UMLS CUI: C3809882
  OMIM ID: 615548
  MedGen ID: 816212
  Orphanet ID: 391397
  SNOMED CT ID: 783550006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN11A	TTN9VTF	moderate	CausalMutation	[1]
SCN11A	TTN9VTF	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN11A	OTY0HJJZ	Strong	Autosomal dominant	[2]

References

• [1] Pain insensitivity: distal S6-segment mutations in Na(V)1.9 emerge as critical hotspot.Neurogenetics. 2017 Jul;18(3):179-181. doi: 10.1007/s10048-017-0513-9. Epub 2017 Mar 13.
• [2] A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15.