Details of Disease | DrugMAP

General Information of Disease (ID: DISLSPO4)

Disease Name	Hereditary sensory and autonomic neuropathy type 1
Synonyms	HSN1; neuropathy hereditary sensory and autonomic type 1; hereditary sensory neuropathy type 1; neuropathy hereditary sensory radicular, autosomal dominant; HSAN 1; hereditary sensory and autonomic neuropathy type I; HSAN1; Hereditary Sensory Neuropathy Type I
Definition	Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Disease Hierarchy	DIS2VOAM: Hereditary sensory and autonomic neuropathy DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISLSPO4: Hereditary sensory and autonomic neuropathy type 1
Disease Identifiers	MONDO ID MONDO_0018213 MESH ID D009477 UMLS CUI C0020071 MedGen ID 5645 Orphanet ID 36386 SNOMED CT ID 230553002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNMT1	TT6S2FE	Strong	Genetic Variation	[1]
AGXT	TTF5NVW	Definitive	Genetic Variation	[2]
RAB7A	TTF6WAQ	Definitive	Biomarker	[3]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATL1	OTR2788Y	Supportive	Autosomal dominant	[4]
ATL3	OTQVFKMV	Supportive	Autosomal dominant	[5]
SPTLC1	OTN0Z98K	Supportive	Autosomal dominant	[6]
SPTLC2	OTBTMH1Z	Supportive	Autosomal dominant	[7]
GABARAP	OTAQUX6E	Strong	Genetic Variation	[8]
GABBR2	OT67RIFY	Strong	Biomarker	[9]
GAS1	OTKJXG52	Strong	Biomarker	[10]
NFIL3	OTQH9HM3	Strong	Genetic Variation	[11]
OSCP1	OTZ4IFGJ	Strong	Biomarker	[12]
RAB7B	OT60A0E9	Strong	Biomarker	[3]
NINJ1	OTLRZ1EU	Definitive	Genetic Variation	[13]
RETREG1	OTYOSLZX	Definitive	Biomarker	[14]
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⏷ Show the Full List of 12 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	Sphingolipid-dependent Dscam sorting regulates axon segregation.Nat Commun. 2019 Feb 18;10(1):813. doi: 10.1038/s41467-019-08765-2.
3	A novel RAB7 mutation associated with ulcero-mutilating neuropathy.Ann Neurol. 2004 Oct;56(4):586-90. doi: 10.1002/ana.20281.
4	Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30.
5	Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22.
6	Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. doi: 10.1038/85879.
7	Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet. 2010 Oct 8;87(4):513-22. doi: 10.1016/j.ajhg.2010.09.010.
8	ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.Curr Biol. 2019 Mar 4;29(5):846-855.e6. doi: 10.1016/j.cub.2019.01.041. Epub 2019 Feb 14.
9	Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.Genomics. 1999 Mar 15;56(3):288-95. doi: 10.1006/geno.1998.5706.
10	Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA.Cytogenet Cell Genet. 1997;78(2):140-4. doi: 10.1159/000134649.
11	Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.Hum Genet. 2000 Jun;106(6):594-6. doi: 10.1007/s004390000306.
12	A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.Genomics. 1998 Jul 15;51(2):277-81. doi: 10.1006/geno.1998.5373.
13	Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II.Am J Med Genet. 1999 Apr 23;83(5):409-10.
14	Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.