MCID: OBS037
MIFTS: 46

Obesity-Hypoventilation Syndrome

Categories: Metabolic diseases

Aliases & Classifications for Obesity-Hypoventilation Syndrome

MalaCards integrated aliases for Obesity-Hypoventilation Syndrome:

Name: Obesity-Hypoventilation Syndrome 57 55
Obesity Hypoventilation Syndrome 37 63 73
Pickwickian Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
obesity-hypoventilation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Obesity-Hypoventilation Syndrome

PubMed Health : 63 About obesity hypoventilation syndrome: Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia).OHS sometimes is called Pickwickian syndrome.

MalaCards based summary : Obesity-Hypoventilation Syndrome, also known as obesity hypoventilation syndrome, is related to sleep apnea and apnea, obstructive sleep, and has symptoms including obesity, metabolically benign An important gene associated with Obesity-Hypoventilation Syndrome is LEP (Leptin), and among its related pathways/superpathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and Circadian rythm related genes. The drugs Acetazolamide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are cyanosis and excessive daytime somnolence

Wikipedia : 76 Obesity hypoventilation syndrome (also known as Pickwickian syndrome) is a condition in which severely... more...

Description from OMIM: 257500

Related Diseases for Obesity-Hypoventilation Syndrome

Diseases related to Obesity-Hypoventilation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 sleep apnea 29.8 ADIPOQ IL6 LEP
2 apnea, obstructive sleep 29.8 ADIPOQ IL6 LEP
3 sleep disorder 29.5 IL6 LEP
4 morbid obesity 29.3 ADIPOQ LEP RETN
5 prader-willi syndrome 28.5 ADIPOQ LEP LEPQTL1 RETN
6 diabetes mellitus 27.8 ADIPOQ IL6 LEP RETN
7 nonalcoholic steatohepatitis 10.4 ADIPOQ LEP
8 abdominal obesity-metabolic syndrome 1 10.4 ADIPOQ LEP
9 nontuberculous mycobacterial lung disease 10.4 ADIPOQ LEP
10 autism 6 10.4 LEP LEPQTL1
11 endocrine pancreas disease 10.4 ADIPOQ LEP
12 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.4 LEP LEPQTL1
13 berardinelli-seip congenital lipodystrophy 10.3 LEP LEPQTL1
14 fetal macrosomia 10.3 LEP LEPQTL1
15 acanthosis nigricans 10.3 ADIPOQ LEP
16 severe pre-eclampsia 10.2 ADIPOQ LEP
17 eating disorder 10.2 ADIPOQ LEP
18 inherited metabolic disorder 10.2 ADIPOQ LEP
19 pulmonary disease, chronic obstructive 10.0
20 respiratory failure 10.0
21 endotheliitis 10.0
22 coronary heart disease 1 9.9 ADIPOQ RETN
23 protein-energy malnutrition 9.9 IL6 LEP
24 focal segmental glomerulosclerosis 1 9.9
25 pulmonary hypertension 9.9
26 focal segmental glomerulosclerosis 9.9
27 ischemic heart disease 9.9
28 paraganglioma 9.9
29 heart disease 9.9
30 patent foramen ovale 9.9
31 polycythemia 9.9
32 arteriosclerosis obliterans 9.9 ADIPOQ IL6
33 pancreas disease 9.9 IL6 LEP
34 scorpion envenomation 9.9 CCL5 IL6
35 chronic eosinophilic pneumonia 9.9 CCL5 IL6
36 uremia 9.8 LEP RETN
37 stachybotrys chartarum 9.8 CCL5 IL6
38 radiculopathy 9.8 CCL5 IL6
39 cytomegalovirus infection 9.8 CCL5 IL6
40 viral meningitis 9.8 CCL5 IL6
41 endocardial fibroelastosis 9.8
42 intracranial hypertension, idiopathic 9.8
43 leukemia 9.8
44 central nervous system leukemia 9.8
45 hypothyroidism 9.8
46 papilledema 9.8
47 peripheral nervous system disease 9.8
48 paraplegia 9.8
49 neuropathy 9.8
50 viral encephalitis 9.8 CCL5 IL6

Graphical network of the top 20 diseases related to Obesity-Hypoventilation Syndrome:



Diseases related to Obesity-Hypoventilation Syndrome

Symptoms & Phenotypes for Obesity-Hypoventilation Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth:
obesity

Neuro:
somnolence
muscular twitching

Skin:
cyanosis

Resp:
periodic breathing


Clinical features from OMIM:

257500

Human phenotypes related to Obesity-Hypoventilation Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 excessive daytime somnolence 32 HP:0001262
3 obesity 32 HP:0001513
4 hypoventilation 32 HP:0002791

UMLS symptoms related to Obesity-Hypoventilation Syndrome:


obesity, metabolically benign

MGI Mouse Phenotypes related to Obesity-Hypoventilation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.46 ADIPOQ IL6 LEP RETN
2 immune system MP:0005387 9.35 ADIPOQ CCL5 IL6 LEP RETN
3 liver/biliary system MP:0005370 8.92 ADIPOQ IL6 LEP RETN

Drugs & Therapeutics for Obesity-Hypoventilation Syndrome

PubMedHealth treatment related to Obesity-Hypoventilation Syndrome: 63

Treatments for obesity hypoventilation syndrome (OHS) include breathing support, weight loss, and medicines.The goals of treating OHS may include:Supporting and aiding your breathingAchieving major weight lossTreating underlying and related conditions

Drugs for Obesity-Hypoventilation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
2 diuretics Phase 3
3 Natriuretic Agents Phase 3
4 Anticonvulsants Phase 3
5 Carbonic Anhydrase Inhibitors Phase 3
6
Menthol Approved Not Applicable 2216-51-5 16666
7 Pharmaceutical Solutions Not Applicable
8 Respiratory System Agents Not Applicable
9 Anesthetics Not Applicable
10 Calamus Nutraceutical Not Applicable

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Treatment of Metabolic Alkalosis With Acetazolamide. Effect on the Length of Mechanical Ventilation. Completed NCT01499485 Phase 3 Acetazolamide;Placebo
2 Astral VAPS AutoEPAP Clinical Trial Completed NCT02683772 Phase 3
3 Cost Effectiveness of Outpatient Set-up of Automated NIV in Obese Patients With Chronic Respiratory Failure Recruiting NCT02342899 Phase 3
4 Patient -Ventilator Interaction in Chronic Respiratory Failure Completed NCT01371149 Phase 2
5 Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation Unknown status NCT01560741 Phase 1
6 EIT Study With Healthy Patients Completed NCT02828007 Phase 1
7 Obesity Hypoventilation Syndrome Prevalence Study Unknown status NCT01964339
8 Use of Polysomnography for Non-Invasive Ventilation Settings' Optimization Unknown status NCT00603096 Not Applicable
9 Response to NonInvasive Mechanical Ventilation According to the Breathing Pattern Unknown status NCT01991535 Not Applicable
10 A Study to Investigate the Effects of Heated Humidification During Non-Invasive Ventilation Unknown status NCT01372072 Not Applicable
11 Autotitrating Versus Standard Non-invasive Ventilation (NIV) in Acute Exacerbation of Respiratory Failure Unknown status NCT01174316 Not Applicable
12 Prevalence of Obesity Hypoventilation Syndrome Completed NCT01903135 Not Applicable
13 PAP Therapy in Patients With Obesity Hypoventilation Syndrome Completed NCT03449641 Not Applicable
14 The Obesity-hypoventilation Syndrome Study of Clinical Characteristics and Predictive Factors of Response to Treatment Completed NCT00938977 Not Applicable
15 Alternative of Treatment in Obesity Hypoventilation Syndrome Completed NCT01405976 Not Applicable
16 A Trial of Rehabilitation in Obesity Hypoventilation Syndrome (OHS) Completed NCT01483716 Not Applicable
17 Target Volume in Noninvasive Positive Pressure Ventilation Completed NCT01748656 Not Applicable
18 AVAPS-AE Efficacy Study Completed NCT01368614 Not Applicable
19 Treatment for Obstructive Sleep Apnea Hypopnea Syndrome and Obesity Hypoventilation Syndrome (OHS) Completed NCT01553227 Not Applicable
20 Impact of Non-intentional Leaks on Noninvasive Ventilation Completed NCT00983411
21 Cardiac and Respiratory Function With Non-invasive Ventilation Completed NCT02699112
22 Factors Associated With Chronic Respiratory Failure in Obesity Completed NCT01380418
23 Efficacy of Average Volume Assured Pressure Support With Bi-Level Pressure Support Nocturnal Ventilation Completed NCT00479284 Not Applicable
24 Patient-ventilator Interactions in Long Term Non-invasive Ventilation: Influence of Back-up Frequency Completed NCT01130090 Not Applicable
25 EIT Study With COPD and OHS Patients (EIT Step 2) Completed NCT02765360 Not Applicable
26 Ventilator Monitoring in Early Exacerbation Detection Completed NCT01644162 Not Applicable
27 Continuous Transcutaneous Electrical Stimulation in Sleep Apnoea Completed NCT01661712 Not Applicable
28 Predictive Factors of Obesity-hypoventilation Syndrome (OHS) Among Obese Subjects- ETUDE COHYPOB - Recruiting NCT02021448 Not Applicable
29 Prevalence Rate, and Clinical Characteristics of Obesity Hypoventilation Syndrome Via Screening Patients Admitted to Medical Intensive Care Units Recruiting NCT02934581
30 Postoperative Complications in Patients With Obesity Hypoventilation Syndrome Recruiting NCT02980770
31 Non Invasive Ventilation : Efficacy of a New Ventilatory Mode in Patients With OHS Recruiting NCT01757444 Not Applicable
32 Effectiveness Monitoring of Home Non-invasive Mechanical Ventilation by Digital Diagnosis Platform Recruiting NCT03085537
33 Severe Obesity Outcome Network Cohort (SOON) Recruiting NCT02264431
34 Impact of Humidification on Sleep Quality During Home Non Invasive Ventilation Recruiting NCT03561974 Not Applicable
35 Telemedicine for Improving Outcome in Inner City Patient Population With Hypercapneic Respiratory Failure Recruiting NCT03353064 Not Applicable
36 Simplus and Eson Non-Invasive Ventilation (NIV) Evaluation - Germany Active, not recruiting NCT02726048 Not Applicable
37 Effects of PEEP on Heart and Lungs in Obese Subjects Enrolling by invitation NCT02523352 Not Applicable
38 Usefulness of Transcutaneous Capnography to Assess Residual Hypoventilation in Obesity-Hypoventilation Syndrom Treated by Non Invasive Ventilation at Home : a Prospective Study Not yet recruiting NCT03572712
39 The Debated Role of Sleep Studies in Patients Under Established Home Mechanical Ventilation Not yet recruiting NCT03506906
40 Study to Evaluate Effectiveness of a Weight Loss Program in Obese Patients During 3 Months Prior to Bariatric Surgery Not yet recruiting NCT03530566
41 Juno Perth Clinical Trial Suspended NCT02317042 Not Applicable
42 Simplus and Eson Evaluation in Obesity Hypoventilation Syndrome (NZ) Terminated NCT02486380 Not Applicable
43 Feasibility of a Modified Positive Airway Pressure Device to Treat Sleep Disordered Breathing Terminated NCT02368639 Not Applicable
44 European Home Mechanical Ventilation Registry Terminated NCT02315339
45 Target Volume Mode Controlled Ventilator in Obesity Hypoventilation Syndrome Withdrawn NCT01104610 Not Applicable

Search NIH Clinical Center for Obesity-Hypoventilation Syndrome

Genetic Tests for Obesity-Hypoventilation Syndrome

Anatomical Context for Obesity-Hypoventilation Syndrome

MalaCards organs/tissues related to Obesity-Hypoventilation Syndrome:

41
Heart, Lung, Endothelial

Publications for Obesity-Hypoventilation Syndrome

Articles related to Obesity-Hypoventilation Syndrome:

(show top 50) (show all 55)
# Title Authors Year
1
NERO: a pilot study but important step towards comprehensive management of obesity hypoventilation syndrome. ( 29074813 )
2018
2
Obesity Hypoventilation Syndrome. ( 29779600 )
2018
3
Ventilation, Obesity-Hypoventilation Syndrome ( 29493925 )
2018
4
Efficacy of bilevel positive airway pressure and continuous positive airway pressure therapy in patients with obesity hypoventilation syndrome: protocol for systematic review and meta-analysis. ( 29724743 )
2018
5
Neural respiratory drive and cardiac function in patients with obesity hypoventilation syndrome following initiation of non-invasive ventilation. ( 29445537 )
2018
6
Exosomal Cargo Properties, Endothelial Function and Treatment of Obesity Hypoventilation Syndrome: A Proof of Concept Study. ( 29734990 )
2018
7
Obesity-hypoventilation syndrome and associated factors. ( 28743403 )
2018
8
Hypercapnia Response in Patients with Obesity-Hypoventilation Syndrome Treated with Non-Invasive Ventilation at Home. ( 29871766 )
2018
9
Nocturnal hypoventilation may have a protective effect for Ischemic heart disease in Obesity Hypoventilation Syndrome. ( 29911492 )
2018
10
Knowledge Gaps in the Perioperative Management of Adults with Obstructive Sleep Apnea and Obesity Hypoventilation Syndrome. An Official American Thoracic Society Workshop Report. ( 29388810 )
2018
11
Nutrition and Exercise Rehabilitation in Obesity hypoventilation syndrome (NERO): a pilot randomised controlled trial. ( 28971973 )
2018
12
Prevalence of obesity hypoventilation syndrome in ambulatory obese patients attending pathology laboratories. ( 28397994 )
2017
13
Survival of Hypercapnic Patients with COPD and Obesity Hypoventilation Syndrome Treated with High Intensity Non Invasive Ventilation in the Daily Routine Care. ( 28839495 )
2017
14
A case report of malignant obesity hypoventilation syndrome: A weighty problem in our ICUs. ( 27920974 )
2017
15
Non-invasive Positive Airway Pressure in Obesity Hypoventilation Syndrome and Chronic Obstructive Pulmonary Disease: Present and Future Perspectives. ( 28485989 )
2017
16
Switch of noninvasive ventilation (NIV) to continuous positive airway pressure (CPAP) in patients with obesity hypoventilation syndrome: a pilot study. ( 28288605 )
2017
17
The prevalence of pulmonary hypertension in patients with obesity hypoventilation syndrome: a prospective observational study. ( 28449486 )
2017
18
Relationships between MRI fat distributions and sleep apnea and obesity hypoventilation syndrome in very obese patients. ( 29197986 )
2017
19
The relationship between obstructive sleep apnea and obesity hypoventilation syndrome: a systematic review and meta-analysis. ( 29190986 )
2017
20
Venovenous Extracorporeal Membrane Oxygenation as a Treatment for Obesity Hypoventilation Syndrome. ( 28326202 )
2017
21
Prevalence of comorbidities in patients with obstructive sleep apnea syndrome, overlap syndrome and obesity hypoventilation syndrome. ( 29227046 )
2017
22
Paradoxical worsening of hypoxemia in a patient treated by noninvasive positive pressure ventilation for obesity hypoventilation syndrome with concomitant obstructive sleep apnea: a case report. ( 28830548 )
2017
23
Obesity Hypoventilation Syndrome: Choosing the Appropriate Treatment of a Heterogeneous Disorder. ( 29108613 )
2017
24
Using PaCO2 values to grade obesity-hypoventilation syndrome severity: a retrospective study. ( 28533903 )
2017
25
Prognosis of Obesity Hypoventilation Syndrome With and Without Concomitant Obstructive Sleep Apnea Syndrome. ( 29103673 )
2017
26
Echocardiographic changes with non-invasive ventilation and CPAP in obesity hypoventilation syndrome. ( 29146865 )
2017
27
Modified STOP-BANG questionnaire to predict obesity hypoventilation syndrome in obese subjects with obstructive sleep apnea. ( 26047651 )
2016
28
Polycythemia, Ablepsia, and Obesity Hypoventilation Syndrome: A Case Report. ( 26481752 )
2015
29
Treatment of obesity hypoventilation syndrome. ( 26841483 )
2015
30
Noninvasive mechanical ventilation in patients with obesity hypoventilation syndrome. Long-term outcome and prognostic factors. ( 24703500 )
2015
31
Obesity hypoventilation syndrome: current theories of pathogenesis. ( 26390338 )
2015
32
Respiratory determinants of diurnal hypercapnia in obesity hypoventilation syndrome. What does weight have to do with it? ( 24828690 )
2014
33
Defining obesity hypoventilation syndrome. ( 24391157 )
2014
34
Comparison of clinical characteristics in patients with obesity hypoventilation syndrome and obese obstructive sleep apnea syndrome: a case-control study. ( 24028180 )
2013
35
Obesity hypoventilation syndrome: A different beast. ( 24381492 )
2013
36
Noninvasive ventilation in acute hypercapnic respiratory failure caused by obesity hypoventilation syndrome and chronic obstructive pulmonary disease. ( 23103736 )
2012
37
Dramatic improvement in hypoxemic respiratory failure after patent foramen ovale closure in a patient with obesity hypoventilation syndrome. ( 22705144 )
2012
38
Obesity hypoventilation syndrome: a review of epidemiology, pathophysiology, and perioperative considerations. ( 22614131 )
2012
39
The malignant obesity hypoventilation syndrome (MOHS). ( 22708580 )
2012
40
Haemodynamic effects of non-invasive ventilation in patients with obesity-hypoventilation syndrome. ( 22897169 )
2012
41
Resolution of proteinuria in a patient with focal segmental glomerulosclerosis following BiPAP initiation for obesity hypoventilation syndrome. ( 22185970 )
2012
42
Obesity hypoventilation syndrome--the big and the breathless. ( 20609602 )
2011
43
[Obesity hypoventilation syndrome and obstructive sleep apnea syndrome: is there an association?]. ( 21948679 )
2011
44
Pleiotropic role of IGF-I in obesity hypoventilation syndrome. ( 20005140 )
2010
45
Endothelial dysfunction and specific inflammation in obesity hypoventilation syndrome. ( 19701463 )
2009
46
Randomised trial of CPAP vs bilevel support in the treatment of obesity hypoventilation syndrome without severe nocturnal desaturation. ( 18203817 )
2008
47
Long-term non-invasive ventilation increases chemosensitivity and leptin in obesity-hypoventilation syndrome. ( 17189682 )
2007
48
Impaired objective daytime vigilance in obesity-hypoventilation syndrome: impact of noninvasive ventilation. ( 17218569 )
2007
49
Treatment of obesity hypoventilation syndrome and serum leptin. ( 16179823 )
2006
50
A case report of an obesity hypoventilation syndrome associated with obstructive sleep apnea due to a carotid body paraganglioma. ( 14592289 )
2003

Variations for Obesity-Hypoventilation Syndrome

Expression for Obesity-Hypoventilation Syndrome

Search GEO for disease gene expression data for Obesity-Hypoventilation Syndrome.

Pathways for Obesity-Hypoventilation Syndrome

GO Terms for Obesity-Hypoventilation Syndrome

Cellular components related to Obesity-Hypoventilation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 ADIPOQ CCL5 IL6 LEP RETN
2 extracellular space GO:0005615 9.02 ADIPOQ CCL5 IL6 LEP RETN

Biological processes related to Obesity-Hypoventilation Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.61 ADIPOQ LEP
2 circadian rhythm GO:0007623 9.6 ADIPOQ LEP
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.59 ADIPOQ IL6
4 response to nutrient GO:0007584 9.58 ADIPOQ LEP
5 response to insulin GO:0032868 9.58 LEP RETN
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.57 CCL5 LEP
7 regulation of insulin secretion GO:0050796 9.56 CCL5 LEP
8 response to glucocorticoid GO:0051384 9.55 ADIPOQ IL6
9 glucose metabolic process GO:0006006 9.54 ADIPOQ LEP
10 response to nutrient levels GO:0031667 9.52 ADIPOQ LEP
11 positive regulation of smooth muscle cell proliferation GO:0048661 9.51 CCL5 IL6
12 fatty acid beta-oxidation GO:0006635 9.49 ADIPOQ LEP
13 negative regulation of fat cell differentiation GO:0045599 9.48 ADIPOQ IL6
14 monocyte chemotaxis GO:0002548 9.46 CCL5 IL6
15 response to activity GO:0014823 9.43 ADIPOQ LEP
16 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 CCL5 IL6 LEP
17 regulation of angiogenesis GO:0045765 9.4 IL6 LEP
18 response to tumor necrosis factor GO:0034612 9.37 ADIPOQ CCL5
19 positive regulation of T cell proliferation GO:0042102 9.33 CCL5 IL6 LEP
20 negative regulation of lipid storage GO:0010888 9.32 IL6 LEP
21 positive regulation of JAK-STAT cascade GO:0046427 9.13 CCL5 IL6 LEP
22 regulation of signaling receptor activity GO:0010469 9.02 ADIPOQ CCL5 IL6 LEP RETN

Molecular functions related to Obesity-Hypoventilation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.13 ADIPOQ CCL5 IL6
2 hormone activity GO:0005179 8.8 ADIPOQ LEP RETN

Sources for Obesity-Hypoventilation Syndrome

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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