Details of Disease

General Information of Disease (ID: DISJER8L)

• Disease Name: Neuropathy, hereditary sensory and autonomic, type 2A
• Synonyms: neuropathy, progressive sensory, of children; acroosteolysis, neurogenic; neuropathy, congenital sensory; neuropathy, hereditary sensory radicular, autosomal recessive; Morvan disease; acroosteolysis, Giaccai type; hereditary sensory and autonomic neuropathy type 2A; hereditary sensory and autonomic neuropathy type IIA; neuropathy, hereditary sensory and autonomic, type II; HSAN 2A; HSN 2A; neuropathy, hereditary sensory, type 2A; neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A
• Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13|Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125
• Disease Hierarchy:
  DIS4TP1G: Hereditary sensory and autonomic neuropathy type 2
  DISJER8L: Neuropathy, hereditary sensory and autonomic, type 2A
• Disease Identifiers:
  MONDO ID: MONDO_0024309
  MESH ID: C567738
  UMLS CUI: C2752089
  OMIM ID: 201300
  MedGen ID: 416701
  SNOMED CT ID: 860809000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNK1	OT4VYRY3	Definitive	Autosomal recessive	[1]

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN9A	TT4G2JS	Strong	CausalMutation	[2]
WNK1	TTJ9UMX	Strong	Biomarker	[3]
WNK1	TTJ9UMX	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.Neurology. 2014 Oct 21;83(17):1577-80. doi: 10.1212/WNL.0000000000000913. Epub 2014 Sep 24.
• [3] New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.Neurology. 2006 Apr 25;66(8):1251-2. doi: 10.1212/01.wnl.0000208415.90685.cd.