Details of Disease

General Information of Disease (ID: DIS2VOAM)

Disease Name Hereditary sensory and autonomic neuropathy
Synonyms
hereditary sensory autonomic neuropathy; hereditary sensory peripheral neuropathy; HSAN; CIP; congenital pain insensitivity; congenital insensitivity to pain; hereditary sensory neuropathy; hereditary sensory and autonomic neuropathy; indifference to pain, Congenital, autosomal recessive
Definition An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DISYWI6M: Peripheral sensory neuropathies
DIS2VOAM: Hereditary sensory and autonomic neuropathy
Disease Identifiers
MONDO ID
MONDO_0015364
MESH ID
D009477
UMLS CUI
C0027889
MedGen ID
14355
Orphanet ID
140471
SNOMED CT ID
128205005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DNMT1 TT6S2FE Strong Genetic Variation [1]
NGF TTDN3LF Strong Autosomal recessive [2]
NGF TTDN3LF Strong Biomarker [3]
NTRK1 TTTDVOJ Strong Genetic Variation [4]
RAB7A TTF6WAQ Strong Genetic Variation [5]
SCN9A TT4G2JS Strong Genetic Variation [6]
WNK1 TTJ9UMX Strong Genetic Variation [7]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DST OTHZBM4X moderate Genetic Variation [8]
ARL6IP1 OT536XAV Strong Biomarker [9]
ATL1 OTR2788Y Strong Biomarker [9]
ATL3 OTQVFKMV Strong Genetic Variation [10]
ELP1 OTYEWBF7 Strong Genetic Variation [11]
FLVCR1 OT9XCFOC Strong Genetic Variation [12]
GABARAP OTAQUX6E Strong Genetic Variation [10]
NAA50 OTFJ8S47 Strong Genetic Variation [13]
NGF OTOLABJT Strong Autosomal recessive [2]
RAB7B OT60A0E9 Strong Genetic Variation [5]
RETREG1 OTYOSLZX Strong Genetic Variation [14]
SPTLC1 OTN0Z98K Strong Genetic Variation [15]
SPTLC2 OTBTMH1Z Strong Genetic Variation [16]
PRDM12 OTOAUVAM Definitive Autosomal recessive [17]
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⏷ Show the Full List of 14 DOT(s)

References

1 A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.J Peripher Nerv Syst. 2016 Sep;21(3):150-3. doi: 10.1111/jns.12178.
2 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.
3 Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method.Neurosci Res. 2016 Mar;104:105-11. doi: 10.1016/j.neures.2015.10.011. Epub 2015 Nov 10.
4 Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20.
5 Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Brain. 2009 Oct;132(Pt 10):2699-711. doi: 10.1093/brain/awp198. Epub 2009 Aug 3.
6 Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology. 2013 Apr 30;80(18):1641-9. doi: 10.1212/WNL.0b013e3182904fdd. Epub 2013 Apr 17.
7 The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.BMC Med Genet. 2019 May 27;20(1):91. doi: 10.1186/s12881-019-0828-5.
8 Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.Neurogastroenterol Motil. 2020 Apr;32(4):e13773. doi: 10.1111/nmo.13773. Epub 2019 Dec 9.
9 ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.Clin Genet. 2018 Jan;93(1):169-172. doi: 10.1111/cge.13048. Epub 2017 Aug 31.
10 ATL3, a cargo receptor for reticulophagy.Autophagy. 2019 Aug;15(8):1465-1466. doi: 10.1080/15548627.2019.1609862. Epub 2019 Apr 28.
11 Animal and cellular models of familial dysautonomia.Clin Auton Res. 2017 Aug;27(4):235-243. doi: 10.1007/s10286-017-0438-2. Epub 2017 Jun 30.
12 Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1.Pain. 2019 Dec;160(12):2766-2775. doi: 10.1097/j.pain.0000000000001675.
13 RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.J Cell Physiol. 2018 Jun;233(6):4479-4489. doi: 10.1002/jcp.26384. Epub 2018 Jan 15.
14 De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.Mol Genet Genomic Med. 2019 Oct;7(10):e00961. doi: 10.1002/mgg3.961. Epub 2019 Sep 1.
15 The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.
16 Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.J Peripher Nerv Syst. 2019 Jun;24(2):224-229. doi: 10.1111/jns.12315. Epub 2019 Apr 4.
17 Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25.