Aliases & Classifications for Apnea, Central Sleep

MalaCards integrated aliases for Apnea, Central Sleep:

Name: Apnea, Central Sleep 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
apnea, central sleep:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


External Ids:

OMIM 57 107640
MedGen 42 C0520680
SNOMED-CT via HPO 69 263681008 26636000 73430006

Summaries for Apnea, Central Sleep

MalaCards based summary : Apnea, Central Sleep is related to central sleep apnea and sleep apnea. An important gene associated with Apnea, Central Sleep is CHAT (Choline O-Acetyltransferase). The drugs Olanzapine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and eye, and related phenotype is sleep apnea.

Description from OMIM: 107640

Related Diseases for Apnea, Central Sleep

Diseases related to Apnea, Central Sleep via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 central sleep apnea 11.8
2 sleep apnea 10.3
3 mixed sleep apnea 9.8

Symptoms & Phenotypes for Apnea, Central Sleep

Symptoms via clinical synopsis from OMIM:

57
Neuro:
infantile sleep apnea

Misc:
frequent sudden infant death syndrome


Clinical features from OMIM:

107640

Human phenotypes related to Apnea, Central Sleep:

32
# Description HPO Frequency HPO Source Accession
1 sleep apnea 32 HP:0010535

Drugs & Therapeutics for Apnea, Central Sleep

Drugs for Apnea, Central Sleep (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Menthol Approved Phase 4 2216-51-5 16666
4
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
5
Acetazolamide Approved, Vet_approved Phase 4,Phase 3 59-66-5 1986
6
Finasteride Approved Phase 4 98319-26-7 57363
7
Testosterone Approved, Investigational Phase 4 58-22-0 6013
8
Desflurane Approved Phase 4 57041-67-5 42113
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Remifentanil Approved Phase 4 132875-61-7 60815
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
13
Loperamide Approved Phase 4 53179-11-6 3955
14
Opium Approved, Illicit Phase 4 8008-60-4
15 tannic acid Approved, Nutraceutical Phase 4
16 Antiemetics Phase 4
17 Antipsychotic Agents Phase 4
18 Autonomic Agents Phase 4
19 Central Nervous System Depressants Phase 4,Phase 3
20 Gastrointestinal Agents Phase 4
21 Neurotransmitter Agents Phase 4,Phase 3
22 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
23 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
24 Psychotropic Drugs Phase 4,Phase 3
25 Serotonin Agents Phase 4,Phase 3
26 Serotonin Uptake Inhibitors Phase 4,Phase 3
27 Tranquilizing Agents Phase 4,Phase 3
28 Antidepressive Agents Phase 4,Phase 3
29 Antidepressive Agents, Second-Generation Phase 4,Phase 3
30 Hormone Antagonists Phase 4,Phase 2,Phase 3
31 Hormones Phase 4,Phase 2,Phase 3
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
33 Analgesics Phase 4,Phase 3,Not Applicable
34 Anesthetics Phase 4,Phase 3,Not Applicable
35 Anesthetics, General Phase 4,Phase 3
36 Anesthetics, Intravenous Phase 4,Phase 3
37 Hypnotics and Sedatives Phase 4,Phase 3
38 Anti-Anxiety Agents Phase 4,Phase 3
39 5-alpha Reductase Inhibitors Phase 4
40 Anticonvulsants Phase 4,Phase 3
41 Carbonic Anhydrase Inhibitors Phase 4,Phase 3
42 diuretics Phase 4,Phase 3
43 Natriuretic Agents Phase 4,Phase 3
44 Steroid Synthesis Inhibitors Phase 4
45 Adjuvants, Anesthesia Phase 4
46 Analgesics, Opioid Phase 4
47 Anesthetics, Inhalation Phase 4
48 Narcotics Phase 4
49 Platelet Aggregation Inhibitors Phase 4
50 Antidiarrheals Phase 4

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 An Investigation of the Sleep Architecture and Consequent Cognitive Changes in Olanzapine-Treated Depressed Patients Completed NCT00520507 Phase 4 Olanzapine;Placebo
2 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
3 Treatment of Sleep Apnea in Patients With Cervical Spinal Cord Injury Recruiting NCT02922894 Phase 4 Trazodone;Placebo
4 Sleep Apnea in Elderly Recruiting NCT02703220 Phase 4 Acetazolamide;Finasteride
5 Short Life Agents in Balanced Anesthesia on Obstructive Sleep Apnea Syndrome Recruiting NCT02717780 Phase 4 Fentanyl and sevoflurane;Remifentanil and desflurane
6 Effect of Acetazolamide on Central Sleep Apnea Related to Opium Consumption Enrolling by invitation NCT02371473 Phase 4 Acetazolamide-placebo;Placebo-acetazolamide
7 Assessment of Desogestrel in Ondine Syndrome Completed NCT01243697 Phase 2, Phase 3 desogestrel
8 Efficacy of Fluoxetine Against Seizure-induced Central Apneas Completed NCT02569970 Phase 3 fluoxetine 20 mg;placebo 20 mg
9 Ketofol vs Propofol for Emergency Department Procedural Sedation and Analgesia Completed NCT01211158 Phase 3 Ketofol;Propofol alone
10 Caffeine for Apnea of Prematurity-Sleep (CAP-S) Study Completed NCT01020357 Phase 3 Caffeine citrate injection;placebo
11 Buspirone as a Potential Treatment for Recurrent Central Apnea Terminated NCT00746954 Phase 3 Acetazolamide;Buspirone
12 Safety of Ramelteon in Subjects With Mild to Moderate Obstructive Sleep Apnea Completed NCT00672061 Phase 2 Ramelteon or Placebo
13 Stroke and CPAP Outcome Study 2 Recruiting NCT02809430 Phase 2
14 Effect of Fenofibrate on Sleep Apnea Syndrome Terminated NCT00816829 Phase 2 Placebo;Fenofibrate
15 Pathophysiology of Central Apnoeas in Stroke Patients Unknown status NCT01723189
16 Mechanisms of Pharyngeal Collapse in Sleep Apnea, Study D Unknown status NCT01733784 Not Applicable
17 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
18 Intrinsic Periodic Pattern of Breathing Unknown status NCT02201875
19 Normal Polysomnography Values in Healthy Children and Adolescents in China Unknown status NCT02761902
20 PAC-IC-SAS Pilot Study - Central Sleep Apneas Syndrome and Ventricular Function Completed NCT01741337 Not Applicable
21 Bipap Automatic Servo Ventilation (autoSV) Advanced in Central Apnea Patients Completed NCT01199042 Not Applicable
22 Comparison of CPAP With SOMNOventCR in Patients With Underlying Heart Disease, Combined OSA and CSR Completed NCT00811668 Not Applicable
23 Comparison of Breathing Event Detection by a Continuous Positive Airway Pressure Device to Clinical Polysomnography Completed NCT01175031 Not Applicable
24 Different Loop Gain Phenotypes in Patients With Chronic Systolic Heart Failure and Periodic Breathing Completed NCT03532412
25 Incidence of Sleep-disordered Breathing and Upper Airway Collapsibility in Postpartum Patients and Its Intervention Completed NCT01719224 Not Applicable
26 Validation of a New Automatic Bi-level Algorithm in the Treatment of Sleep-disordered Breathing Completed NCT00910195 Not Applicable
27 Effect of Oxygen on Core Temperature Completed NCT00543452 Not Applicable
28 The Influence of the Sleep Apnea on the Neurological and Functional Recovery Completed NCT01321229
29 Evaluation of Breathing, Sleep and the Effects of Continuous Positive Airway Pressure During Wakefulness in Children With Heart Failure Completed NCT02414126 Not Applicable
30 Evaluation of ApneaLink Plus Scoring Capabilities Completed NCT00823134
31 Role of Obstructive Sleep Apnea in Stroke Appearance Completed NCT00613522
32 Determinants of Age Related Breathing Instability During Non-Rapid-Eye-Movement (NREM) Sleep Completed NCT00732199 Not Applicable
33 Sleep Disordered Breathing and Chronic Pain Completed NCT01457014 Not Applicable
34 Adaptive Servo-Ventilation in "Real Life" Conditions : the OTRLASV Study Completed NCT02429986 Not Applicable
35 Alice PDx User/Validation Extended Trial Completed NCT00841906 Not Applicable
36 Effect of Intermittent Hemodialysis on Sleep Apnea Syndrome in End Stage Renal Disease Patients Completed NCT01860209 Not Applicable
37 Comparison Between Infant Flow SiPAP and Noninvasive NAVA in the Neonatal Intensive Care Unit Completed NCT01588080 Not Applicable
38 Comparison of Automatic CPAP to Fixed CPAP for OSAS Following a Prediction Formula Completed NCT00262366 Not Applicable
39 Comparison of Two Ventilator Mode During the Night: New Strategy of Mechanical Ventilation Weaning Completed NCT01573481 Not Applicable
40 Respicardia, Inc. Pivotal Trial of the remedē System Completed NCT01816776 Not Applicable
41 Oxygen Supplementation Study in Obstructive Sleep Apnea (OSA) Patients Completed NCT01552304 Not Applicable
42 AutoSet for Her Clinical Trial Protocol Completed NCT01826513 Not Applicable
43 Is the STOP-BANG Predictive of Worsening OSA in the Early Postop Period in Patients Undergoing TJA? Completed NCT02123225
44 Evaluation of the Philips Respironics BiPAP autoSV Devices in Subjects With Sleep Disorders Completed NCT01626989 Not Applicable
45 Validation of the Peripheral Arterial Tone to Detect Sleep-disordered Breathing in Patients With Chronic Heart Failure Completed NCT02760680 Not Applicable
46 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017 Not Applicable
47 Central Apnea in Patients Receiving Ticagrelor Recruiting NCT03540459
48 Quality of Sleep of Patients With Predominant Central Sleep Apnea Syndrome(SAS) Whose EF > 45% Treated by ASV Recruiting NCT02835638
49 Cognitive Consequences of an Activation of the Cortical Drive to Breath (VENTIPSY) Recruiting NCT03095729
50 Effect of Beginning a Renal Replacement Therapy on Obstructive Sleep Apnea in End Stage Renal Disease Patients Recruiting NCT02073344 Not Applicable

Search NIH Clinical Center for Apnea, Central Sleep

Genetic Tests for Apnea, Central Sleep

Anatomical Context for Apnea, Central Sleep

MalaCards organs/tissues related to Apnea, Central Sleep:

41
Heart, Spinal Cord, Eye

Publications for Apnea, Central Sleep

Articles related to Apnea, Central Sleep:

# Title Authors Year
1
Clinical impact of adaptive servoventilation compared to other ventilatory modes in patients with treatment-emergent sleep apnea, central sleep apnea and Cheyne-Stokes respiration. ( 25926251 )
2015

Variations for Apnea, Central Sleep

ClinVar genetic disease variations for Apnea, Central Sleep:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHAT NM_020549.4(CHAT): c.1061C> T (p.Thr354Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769234940 GRCh37 Chromosome 10, 50835781: 50835781
2 CHAT NM_020549.4(CHAT): c.1061C> T (p.Thr354Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769234940 GRCh38 Chromosome 10, 49627735: 49627735
3 CHAT NM_020549.4(CHAT): c.2081C> G (p.Ser694Cys) single nucleotide variant Pathogenic rs201439531 GRCh37 Chromosome 10, 50872926: 50872926
4 CHAT NM_020549.4(CHAT): c.2081C> G (p.Ser694Cys) single nucleotide variant Pathogenic rs201439531 GRCh38 Chromosome 10, 49664880: 49664880

Expression for Apnea, Central Sleep

Search GEO for disease gene expression data for Apnea, Central Sleep.

Pathways for Apnea, Central Sleep

GO Terms for Apnea, Central Sleep

Sources for Apnea, Central Sleep

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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