Details of Disease

General Information of Disease (ID: DISER6KS)

• Disease Name: Sleep apnea syndrome
• Synonyms: hypopnea, sleep; sleep hypopneas; sleep hypopnea; breathing, sleep-disordered; apnea syndrome, sleep; mixed sleep apnea; sleep apnea, mixed; mixed central and obstructive sleep apnea; hypersomnia with periodic respiration; sleep apneas, mixed; hypopneas, sleep; apnea syndromes, sleep; apnea, sleep; sleep apnea, mixed central and obstructive; mixed sleep Apneas; apneas, sleep; breathing-related sleep disorder; sleep apnea syndrome; sleep disordered breathing; sleep-disordered breathing; SDB; sleep apnea; sleep apneas
• Definition: A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.
• Disease Hierarchy:
  DISGGAGJ: Respiratory disease
  DISOBM0Q: Sleep-wake disorder
  DISER6KS: Sleep apnea syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0005296
  MESH ID: D012891
  UMLS CUI: C0037315
  MedGen ID: 11458
  HPO ID: HP:0010535
  SNOMED CT ID: 73430006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFD	TT8D13I	Limited	Biomarker	[1]
APOA2	TTGQA9W	Strong	Genetic Variation	[2]
BCHE	TT3MSAO	Strong	Biomarker	[3]
CYSLTR1	TTGKOY9	Strong	Biomarker	[4]
GSN	TTUH7OM	Strong	Genetic Variation	[5]
HCRT	TTU5HJP	Strong	Biomarker	[6]
HMOX2	TTWZRL4	Strong	Genetic Variation	[7]
IDS	TTNY2AP	Strong	Genetic Variation	[8]
REG3A	TTL4H8N	Strong	Biomarker	[9]
S100B	TTQ0V86	Strong	Biomarker	[10]
TUSC2	TTJ8O14	Strong	Biomarker	[9]
CYP2J2	TTNE1C7	Definitive	Genetic Variation	[11]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ACP3	DEDW5H6	Strong	Biomarker	[9]

This Disease Is Related to 21 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS2	OTTK22NO	Strong	Biomarker	[12]
ADAMTS3	OT2U6VF5	Strong	Biomarker	[12]
AHDC1	OTQ1VL2W	Strong	Genetic Variation	[13]
ASAP1	OT4DLRYY	Strong	Biomarker	[9]
ASAP2	OTGEXULW	Strong	Biomarker	[9]
C1orf52	OT8RQW3W	Strong	Genetic Variation	[14]
CDKL5	OTGL5HRV	Strong	Biomarker	[15]
ENOSF1	OT65D3ZK	Strong	Biomarker	[16]
LRRC4	OT7XJ70N	Strong	Genetic Variation	[14]
MRPS30	OTDXIAGG	Strong	Biomarker	[9]
MTPAP	OT6HQ02S	Strong	Biomarker	[9]
NANS	OTMQ2FUH	Strong	Genetic Variation	[17]
NPS	OTEG25A2	Strong	Genetic Variation	[18]
P4HTM	OTKELL7F	Strong	Biomarker	[19]
PAPOLA	OTPHD65D	Strong	Biomarker	[9]
PDAP1	OTJSWMOD	Strong	Biomarker	[9]
PSG5	OTHTU98X	Strong	Biomarker	[20]
RECQL4	OT59LSW7	Strong	Biomarker	[16]
RRS1	OTTNCZN6	Strong	Genetic Variation	[21]
SACS	OTZGXQ8A	Strong	Biomarker	[22]
TSPAN31	OT8WQ83R	Strong	Genetic Variation	[17]

References

• [1] A review of fluid-structure interaction simulation for patients with sleep related breathing disorders with obstructive sleep.Comput Methods Programs Biomed. 2019 Oct;180:105036. doi: 10.1016/j.cmpb.2019.105036. Epub 2019 Aug 12.
• [2] C57BL/6J mouse apolipoprotein A2 gene is deterministic for apnea.Respir Physiol Neurobiol. 2017 Jan;235:88-94. doi: 10.1016/j.resp.2016.10.006. Epub 2016 Oct 15.
• [3] Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576).Chem Biol Interact. 2008 Sep 25;175(1-3):135-7. doi: 10.1016/j.cbi.2008.04.038. Epub 2008 May 4.
• [4] Cysteinyl leukotriene signaling aggravates myocardial hypoxia in experimental atherosclerotic heart disease.PLoS One. 2012;7(7):e41786. doi: 10.1371/journal.pone.0041786. Epub 2012 Jul 25.
• [5] Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis.J Sleep Res. 1999 Jun;8(2):143-9. doi: 10.1046/j.1365-2869.1999.00140.x.
• [6] Systemic exertion intolerance disease/chronic fatigue syndrome is common in sleep centre patients with hypersomnolence: A retrospective pilot study.J Sleep Res. 2019 Jun;28(3):e12689. doi: 10.1111/jsr.12689. Epub 2018 Apr 6.
• [7] Complementary roles of gasotransmitters CO and H2S in sleep apnea.Proc Natl Acad Sci U S A. 2017 Feb 7;114(6):1413-1418. doi: 10.1073/pnas.1620717114. Epub 2017 Jan 23.
• [8] Theophylline improves pneumogram abnormalities in infants at risk for sudden infant death syndrome.J Pediatr. 1983 Dec;103(6):969-74. doi: 10.1016/s0022-3476(83)80734-3.
• [9] Economic Assessment of 4 Approaches to the Diagnosis and Initial Treatment of Sleep Apnea.Respir Care. 2018 Jan;63(1):50-61. doi: 10.4187/respcare.05355. Epub 2017 Oct 24.
• [10] Intermittent hypoxia during sleep induces reactive gliosis and limited neuronal death in rats: implications for sleep apnea.J Neurochem. 2010 Feb;112(4):854-69. doi: 10.1111/j.1471-4159.2009.06535.x. Epub 2009 Dec 10.
• [11] The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile.BMC Cardiovasc Disord. 2008 Dec 23;8:41. doi: 10.1186/1471-2261-8-41.
• [12] Association between the ADAMTS proteinases and obstructive sleep apnea.Sleep Breath. 2020 Sep;24(3):835-840. doi: 10.1007/s11325-019-01909-0. Epub 2019 Aug 16.
• [13] MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.Hum Mol Genet. 2015 Apr 15;24(8):2375-89. doi: 10.1093/hmg/ddv004. Epub 2015 Jan 7.
• [14] Obstructive sleep apnea in refractory epilepsy: A pilot study investigating frequency, clinical features, and association with risk of sudden unexpected death in epilepsy.Epilepsia. 2018 Oct;59(10):1973-1981. doi: 10.1111/epi.14548. Epub 2018 Sep 24.
• [15] CDKL5 deficiency entails sleep apneas in mice.J Sleep Res. 2017 Aug;26(4):495-497. doi: 10.1111/jsr.12512. Epub 2017 Feb 23.
• [16] Retinal vein occlusion and obstructive sleep apnea: a series of 114 patients.Acta Ophthalmol. 2018 Dec;96(8):e919-e925. doi: 10.1111/aos.13798. Epub 2018 Sep 6.
• [17] Impact of sacubitril-valsartan combination in patients with chronic heart failure and sleep apnoea syndrome: the ENTRESTO-SAS study design.ESC Heart Fail. 2018 Jun;5(3):222-230. doi: 10.1002/ehf2.12270. Epub 2018 Feb 22.
• [18] Non-synonymous polymorphism in the neuropeptide S precursor gene and sleep apnea.Sleep Breath. 2011 Sep;15(3):403-8. doi: 10.1007/s11325-010-0348-1. Epub 2010 Apr 21.
• [19] Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.
• [20] Blood count values and ratios for predicting sleep apnea in obese children.Int J Pediatr Otorhinolaryngol. 2017 Jul;98:85-90. doi: 10.1016/j.ijporl.2017.04.043. Epub 2017 May 1.
• [21] Unplanned Readmissions After Open Thoracoabdominal Aortic Aneurysm Repair.Ann Thorac Surg. 2018 Jan;105(1):228-234. doi: 10.1016/j.athoracsur.2017.08.014. Epub 2017 Nov 20.
• [22] Nutrigenetic genotyping study in relation to Sleep Apnea Clinical Score.Sleep Breath. 2019 Jun;23(2):659-663. doi: 10.1007/s11325-018-1742-3. Epub 2018 Oct 17.