Details of Disease | DrugMAP

General Information of Disease (ID: DISJZHNP)

Disease Name	Riley-Day syndrome
Synonyms	dysautonomia, familial; familial autonomic nervous dysfunction; Riley-Day syndrome; HSAN 3; HSAN III; Dysautonomia, Familial; HSAN3; hereditary sensory and autonomic neuropathy type 3; hereditary sensory and autonomic neuropathy 3; neuropathy, hereditary sensory and autonomic, type III; neuropathy, hereditary sensory and autonomic, type 3; familial dysautonomia; hereditary sensory neuropathy type 3; hereditary sensory and autonomic neuropathy type III; Riley Day syndrome; HSN 3
Definition	A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS2IQBH: Neurocristopathy DISJZHNP: Riley-Day syndrome
Disease Identifiers	MONDO ID MONDO_0009131 MESH ID D004402 UMLS CUI C0013364 OMIM ID 223900 MedGen ID 41678 Orphanet ID 1764 SNOMED CT ID 29159009

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
ELP1	TTY2XZ0	Supportive	Autosomal recessive	[1]
GLA	TTIS03D	Strong	Altered Expression	[2]
HMGCS2	TTS0EZJ	Strong	Altered Expression	[3]
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This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELP1	OTYEWBF7	Supportive	Autosomal recessive	[1]
ACTL7A	OT840164	Strong	Biomarker	[4]
ACTL7B	OTCG3IGE	Strong	Biomarker	[4]
CTNNAL1	OTESJ6JD	Strong	Biomarker	[5]
ELP2	OTBXG37N	Strong	Biomarker	[6]
ELP3	OTT5UKSZ	Strong	Biomarker	[7]
ELP4	OTP5GZ9V	Strong	Biomarker	[6]
KDELR2	OT9QW7Q0	Strong	Genetic Variation	[8]
LSM2	OTHL77NY	Strong	Genetic Variation	[9]
NOVA1	OT6A9KHY	Strong	Biomarker	[10]
RBM24	OTQI1AR1	Strong	Biomarker	[9]
SPTLC1	OTN0Z98K	Strong	Biomarker	[11]
SPTLC2	OTBTMH1Z	Strong	Biomarker	[12]
STMN2	OT0FUHLH	Strong	Altered Expression	[13]
TECPR2	OT1UFECZ	Definitive	Genetic Variation	[14]
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⏷ Show the Full List of 15 DOT(s)

References

1	Familial Dysautonomia. 2003 Jan 21 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.J Parkinsons Dis. 2020;10(1):141-152. doi: 10.3233/JPD-191704.
3	Sleep profile during fasting in PPAR-alpha knockout mice.Physiol Behav. 2020 Feb 1;214:112760. doi: 10.1016/j.physbeh.2019.112760. Epub 2019 Nov 27.
4	Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.Genomics. 1999 Jun 15;58(3):302-9. doi: 10.1006/geno.1999.5848.
5	Alpha-catulin maps to the familial dysautonomia region on 9q31.Genome. 2001 Dec;44(6):990-4. doi: 10.1139/g01-103.
6	The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.Dis Model Mech. 2017 May 1;10(5):605-618. doi: 10.1242/dmm.028258. Epub 2017 Feb 6.
7	The histone acetyltransferase Elp3 plays in active role in the control of synaptic bouton expansion and sleep in Drosophila.J Neurochem. 2010 Oct;115(2):493-504. doi: 10.1111/j.1471-4159.2010.06892.x. Epub 2010 Aug 24.
8	Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res. 2009 Mar;65(3):341-6.
9	RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.RNA. 2017 Sep;23(9):1393-1403. doi: 10.1261/rna.059428.116. Epub 2017 Jun 7.
10	MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.Dis Model Mech. 2016 Aug 1;9(8):899-909. doi: 10.1242/dmm.025841. Epub 2016 Jun 29.
11	V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.Case Rep Genet. 2018 Oct 18;2018:1898151. doi: 10.1155/2018/1898151. eCollection 2018.
12	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.
13	IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.Hum Mol Genet. 2011 Apr 15;20(8):1585-94. doi: 10.1093/hmg/ddr036. Epub 2011 Jan 27.
14	TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22.