Details of Disease | DrugMAP

General Information of Disease (ID: DISJ1NV4)

Disease Name	Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Synonyms	HSAN2D, AR; CIP; HSAN2D; congenital analgesia, autosomal recessive; neuropathy, hereditary sensory and autonomic, type 2D; insensitivity to pain, channelopathy-associated; indifference to pain, congenital, autosomal recessive; asymbolia for pain; neuropathy, hereditary sensory and autonomic, type IID; channelopathy-associated CIP; insensitivity to pain, congenital
Definition	A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISJ1NV4: Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009459 MESH ID C565467 UMLS CUI C1855739 OMIM ID 243000 MedGen ID 344563 Orphanet ID 88642

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN10A	TT90XZ8	Strong	Genetic Variation	[1]
SCN11A	TTN9VTF	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN9A	DTQC85B	Strong	Autosomal recessive	[3]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRDM12	OTOAUVAM	Limited	Genetic Variation	[4]
ARL6IP1	OT536XAV	Strong	Genetic Variation	[5]
NAA50	OTFJ8S47	Strong	Biomarker	[2]
SCN9A	OTGSKLL8	Strong	Autosomal recessive	[3]
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References

1	Painful and painless channelopathies.Lancet Neurol. 2014 Jun;13(6):587-99. doi: 10.1016/S1474-4422(14)70024-9. Epub 2014 May 6.
2	Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.Br J Dermatol. 2018 Nov;179(5):1135-1140. doi: 10.1111/bjd.16893. Epub 2018 Sep 16.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4	Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA.Cell Rep. 2019 Mar 26;26(13):3522-3536.e5. doi: 10.1016/j.celrep.2019.02.097.
5	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.