Details of Disease

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

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]

This Disease Is Related to 14 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]
SPTLC2	OTBTMH1Z	Strong	Biomarker	[11]
STMN2	OT0FUHLH	Strong	Altered Expression	[12]
TECPR2	OT1UFECZ	Definitive	Genetic Variation	[13]

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] 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.
• [12] 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.
• [13] 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.