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:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


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 Guaifenesin and Opium have been mentioned in the context of this disorder. Affiliated tissues include heart, 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 12.0
2 sleep apnea 10.6

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

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Effect of Acetazolamide on Central Sleep Apnea Related to Opium Consumption Enrolling by invitation NCT02371473 Phase 4 Acetazolamide-placebo;Placebo-acetazolamide
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 An Investigation of the Sleep Architecture and Consequent Cognitive Changes in Olanzapine-Treated Depressed Patients Completed NCT00520507 Phase 4 Olanzapine;Placebo
6 Short Life Agents in Balanced Anesthesia on Obstructive Sleep Apnea Syndrome Completed NCT02717780 Phase 4 Fentanyl and sevoflurane;Remifentanil and desflurane
7 Assessment of Desogestrel in Ondine Syndrome Completed NCT01243697 Phase 2, Phase 3 desogestrel
8 Buspirone as a Potential Treatment for Recurrent Central Apnea Terminated NCT00746954 Phase 3 Acetazolamide;Buspirone
9 Efficacy of Fluoxetine Against Seizure-induced Central Apneas Completed NCT02569970 Phase 3 fluoxetine 20 mg;placebo 20 mg
10 Ketofol vs Propofol for Emergency Department Procedural Sedation and Analgesia Completed NCT01211158 Phase 3 Ketofol;Propofol alone
11 Caffeine for Apnea of Prematurity-Sleep (CAP-S) Study Completed NCT01020357 Phase 3 Caffeine citrate injection;placebo
12 Stroke and CPAP Outcome Study 2 Completed NCT02809430 Phase 2
13 Safety of Ramelteon in Subjects With Mild to Moderate Obstructive Sleep Apnea Completed NCT00672061 Phase 2 Ramelteon or Placebo
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 Do Sleep and Circadian Rhythm Disturbances Impact the Cognitive and Behavioural Development of Children With Autism? Unknown status NCT02878499 Not Applicable
21 PAC-IC-SAS Pilot Study - Central Sleep Apneas Syndrome and Ventricular Function Completed NCT01741337 Not Applicable
22 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017 Not Applicable
23 Central Apnea in Patients Receiving Ticagrelor Recruiting NCT03540459
24 Quality of Sleep of Patients With Predominant Central Sleep Apnea Syndrome(SAS) Whose EF > 45% Treated by ASV Recruiting NCT02835638
25 Bipap Automatic Servo Ventilation (autoSV) Advanced in Central Apnea Patients Completed NCT01199042 Not Applicable
26 Comparison of CPAP With SOMNOventCR in Patients With Underlying Heart Disease, Combined OSA and CSR Completed NCT00811668 Not Applicable
27 Comparison of Breathing Event Detection by a Continuous Positive Airway Pressure Device to Clinical Polysomnography Completed NCT01175031 Not Applicable
28 Cognitive Consequences of an Activation of the Cortical Drive to Breath (VENTIPSY) Recruiting NCT03095729
29 Different Loop Gain Phenotypes in Patients With Chronic Systolic Heart Failure and Periodic Breathing Completed NCT03532412
30 Incidence of Sleep-disordered Breathing and Upper Airway Collapsibility in Postpartum Patients and Its Intervention Completed NCT01719224 Not Applicable
31 The remedē® System for the Treatment of Central Sleep Apnea in Daily Practice Terminated NCT02577445
32 Eval EarlySense Bet Lowenstein Sleeplab Withdrawn NCT01978340
33 Validation of a New Automatic Bi-level Algorithm in the Treatment of Sleep-disordered Breathing Completed NCT00910195 Not Applicable
34 Alice PDx User/Validation Extended Trial Completed NCT00841906 Not Applicable
35 Minimally Invasive Detection of a Sleep Apnoea Enrolling by invitation NCT03760159
36 Effect of Oxygen on Core Temperature Completed NCT00543452 Not Applicable
37 Arterial Oxygen Saturation on Ventilatory Stability in Extremely Premature Infants Recruiting NCT03695900 Not Applicable
38 Diagnosis of Sleep-Related Respiratory Disorders in Patients With Narcotic Medications Not yet recruiting NCT03670914 Not Applicable
39 The Influence of the Sleep Apnea on the Neurological and Functional Recovery Completed NCT01321229
40 Evaluation of Breathing, Sleep and the Effects of Continuous Positive Airway Pressure During Wakefulness in Children With Heart Failure Completed NCT02414126 Not Applicable
41 Evaluation of ApneaLink Plus Scoring Capabilities Completed NCT00823134
42 Benefit of Cheyne-Stokes Respiration Remote Monitoring in CPAP-treated Patients With Obstructive Sleep Apnea to Detect Early Events of Heart Failure. Enrolling by invitation NCT03592108 Not Applicable
43 Randomized Trial Investigating Four Nasal CPAP Systems in the Management of Apnea of Prematurity Terminated NCT00482040 Not Applicable
44 Role of Obstructive Sleep Apnea in Stroke Appearance Completed NCT00613522
45 Determinants of Age Related Breathing Instability During Non-Rapid-Eye-Movement (NREM) Sleep Completed NCT00732199 Not Applicable
46 Sleep Disordered Breathing and Chronic Pain Completed NCT01457014 Not Applicable
47 Transcutaneous CO2 Monitoring at Home for Children With Neuromuscular Disease Not yet recruiting NCT03478566 Not Applicable
48 Adaptive Servo-Ventilation in "Real Life" Conditions : the OTRLASV Study Completed NCT02429986 Not Applicable
49 Effect of Intermittent Hemodialysis on Sleep Apnea Syndrome in End Stage Renal Disease Patients Completed NCT01860209 Not Applicable
50 Oxygenation Instability and Maturation of Control of Breathing in Premature Infants Recruiting NCT03445689

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

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.2081C> G (p.Ser694Cys) single nucleotide variant Pathogenic rs201439531 GRCh38 Chromosome 10, 49664880: 49664880
2 CHAT NM_020549.4(CHAT): c.2081C> G (p.Ser694Cys) single nucleotide variant Pathogenic rs201439531 GRCh37 Chromosome 10, 50872926: 50872926
3 CHAT NM_020549.4(CHAT): c.1061C> T (p.Thr354Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769234940 GRCh38 Chromosome 10, 49627735: 49627735
4 CHAT NM_020549.4(CHAT): c.1061C> T (p.Thr354Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769234940 GRCh37 Chromosome 10, 50835781: 50835781

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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