Aliases & Classifications for Apnea, Central Sleep

MalaCards integrated aliases for Apnea, Central Sleep:

Name: Apnea, Central Sleep 57 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
apnea, central sleep:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 107640
MedGen 41 C0520680
SNOMED-CT via HPO 68 263681008 26636000 73430006

Summaries for Apnea, Central Sleep

MalaCards based summary : Apnea, Central Sleep is related to sleep apnea and central sleep apnea. An important gene associated with Apnea, Central Sleep is CHAT (Choline O-Acetyltransferase). Affiliated tissues include heart, and related phenotypes are sleep apnea and sudden death

More information 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 sleep apnea 9.9
2 central sleep apnea 9.9

Symptoms & Phenotypes for Apnea, Central Sleep

Human phenotypes related to Apnea, Central Sleep:

31
# Description HPO Frequency HPO Source Accession
1 sleep apnea 31 HP:0010535
2 sudden death 31 HP:0001699

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
infantile sleep apnea

Misc:
frequent sudden infant death syndrome

Clinical features from OMIM®:

107640 (Updated 20-May-2021)

Drugs & Therapeutics for Apnea, Central Sleep

Search Clinical Trials , 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:

40
Heart

Publications for Apnea, Central Sleep

Articles related to Apnea, Central Sleep:

(show all 21)
# Title Authors PMID Year
1
Lifetime Care of Duchenne Muscular Dystrophy. 61
33131659 2020
2
Sleep endoscopy-directed management of Arnold-Chiari malformation: a child with persistent obstructive sleep apnea. 61
31992420 2020
3
Sleep Breathing Disorders in Heart Failure. 61
31735314 2020
4
Role of sleep study in children with Chiari malformation and sleep disordered breathing. 61
31372737 2019
5
Diagnosis and perioperative management in pediatric sleep-disordered breathing. 61
30281185 2018
6
Impact of sleep-disordered breathing in patients with acute myocardial infarction: a retrospective analysis. 61
28488317 2017
7
Raising awareness about sleep disorders. 61
28474653 2017
8
Impact of SERVE-HF on management of sleep disordered breathing in heart failure: a call for further studies. 61
26872963 2016
9
Clinical impact of adaptive servoventilation compared to other ventilatory modes in patients with treatment-emergent sleep apnea, central sleep apnea and Cheyne-Stokes respiration. 61
25926251 2015
10
Absence of Typical Symptoms and Comorbidities in Patients with Central Sleep Apnea. 61
26269028 2015
11
Treatment of sleep-disordered breathing with positive airway pressure devices: technology update. 61
26604837 2015
12
Enhancing adherence to positive airway pressure therapy for sleep disordered breathing. 61
25353105 2014
13
Non-contact screening system with two microwave radars in the diagnosis of sleep apnea-hypopnea syndrome. 61
23920557 2013
14
Comorbid insomnia in sleep-related breathing disorders: an under-recognized association. 61
21445659 2012
15
Medical consequences and associations with untreated sleep-related breathing disorders and outcomes of treatments. 61
22416633 2012
16
Reversal of sleep-disordered breathing with opioid withdrawal. 61
19549061 2009
17
Prevalence and management of central sleep apnea in heart failure patients. 61
19032919 2008
18
Pathogenesis of obstructive and central sleep apnea. 61
16100008 2005
19
Central sleep apnea in congestive heart failure: prevalence, mechanisms, impact, and therapeutic options. 61
16052417 2005
20
The association of hypertension and secondary cardiovascular disease with sleep-disordered breathing. 61
12527627 2003
21
Sleep apnea in patients with left ventricular dysfunction: beneficial effects of nasal CPAP. 61
2198597 1990

Variations for Apnea, Central Sleep

ClinVar genetic disease variations for Apnea, Central Sleep:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) SNV Pathogenic 523528 rs769234940 GRCh37: 10:50835781-50835781
GRCh38: 10:49627735-49627735
2 CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys) SNV Pathogenic 523529 rs201439531 GRCh37: 10:50872926-50872926
GRCh38: 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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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